Canonical Allele Identifier: CA117567

Gene: TCAP

Linked Data

• ClinVar Variation Id: 5525
• ClinVar RCV Id: RCV000005861 ; RCV000037790 ; RCV000211741 ; RCV001380074 ; RCV002496272
• dbSNP Id: rs104894655
• gnomAD v3: 17-39665762-C-T
• gnomAD v4: 17-39665762-C-T
• MyVariant Identifiers: chr17:g.37822015C>T (hg19) ; chr17:g.39665762C>T (hg38)
• PubMed: PMID:10655062

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665762C>T , CM000679.2:g.39665762C>T	GRCh38
NC_000017.10:g.37822015C>T , CM000679.1:g.37822015C>T	GRCh37
NC_000017.9:g.35075541C>T	NCBI36
NG_008892.1:g.5417C>T , LRG_210:g.5417C>T
NG_042278.1:g.2782C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.157C>T MANE Select	ENSP00000312624.2:p.Gln53Ter
ENST00000309889.2:c.157C>T	ENSP00000312624.2:p.Gln53Ter
ENST00000578283.1:c.157C>T	ENSP00000462787.1:p.Gln53Ter
NM_003673.3:c.157C>T , LRG_210t1:c.157C>T	NP_003664.1:p.Gln53Ter
NM_003673.4:c.157C>T MANE Select	NP_003664.1:p.Gln53Ter