ENST00000547743.1 APAF1

Information
Transcript ID
ENST00000547743.1
Genome
hg19
Position
chr12:99,039,449-99,042,710
Strand
+
CDS length
393
Amino acid length
131
Gene symbol
APAF1
Gene type
protein-coding
Gene description
apoptotic peptidase activating factor 1
Gene Entrez Gene ID
317
Variants

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MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
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MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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MGeND data only
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
1 99,039,449 99,039,613
2 99,042,097 99,042,275
3 99,042,404 99,042,710
CDS
Exon number Type Start Stop
2 CDS 99,042,138 99,042,275
3 CDS 99,042,404 99,042,658
Other genome
Genome Chromosome Start End Links
hg38 chr12 98,645,671 98,648,932 Link
CDS sequence
ATGGATGCAAAAGCTCGAAATTGTTTGCTTCAACATAGAGAAGCTCTGGAAAAGGACATCAAGACATCCTACATCATGGATCACATGATTAGTGATGGATTTTTAACAATATCAGAAGAGGAAAAAGTAAGAAATGAGCCCACTCAACAGCAAAGAGCAGCTATGCTGATTAAAATGATACTTAAAAAAGATAATGATTCCTACGTATCATTCTACAATGCTCTACTACATGAAGGATATAAAGATCTTGCTGCCCTTCTCCATGATGGCATTCCTGTTGTCTCTTCTTCCAGTGGTAAAGATTCAGTTAGTGGAATAACTTCGTATGGTTTGTATCCATTATACCTTCTATCACTTTGCTATCAAAATTGCTTTGGGTTTGTCTTATTGTAG
Amino sequence
MDAKARNCLLQHREALEKDIKTSYIMDHMISDGFLTISEEEKVRNEPTQQQRAAMLIKMILKKDNDSYVSFYNALLHEGYKDLAALLHDGIPVVSSSSGKDSVSGITSYGLYPLYLLSLCYQNCFGFVLL*