Canonical Allele Identifier: CA10606859

Gene: TCAP

Linked Data

• ClinVar Variation Id: 290645
• ClinVar RCV Id: RCV000400258 ; RCV001231484 ; RCV002288966 ; RCV002365326 ; RCV002502153
• dbSNP Id: rs141019458
• gnomAD v3: 17-39665425-G-A
• gnomAD v4: 17-39665425-G-A
• MyVariant Identifiers: chr17:g.37821678G>A (hg19) ; chr17:g.39665425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665425G>A , CM000679.2:g.39665425G>A	GRCh38
NC_000017.10:g.37821678G>A , CM000679.1:g.37821678G>A	GRCh37
NC_000017.9:g.35075204G>A	NCBI36
NG_008892.1:g.5080G>A , LRG_210:g.5080G>A
NG_042278.1:g.2445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.66G>A MANE Select	ENSP00000312624.2:p.Trp22Ter
ENST00000309889.2:c.66G>A	ENSP00000312624.2:p.Trp22Ter
ENST00000578283.1:c.66G>A	ENSP00000462787.1:p.Trp22Ter
NM_003673.3:c.66G>A , LRG_210t1:c.66G>A	NP_003664.1:p.Trp22Ter
NM_003673.4:c.66G>A MANE Select	NP_003664.1:p.Trp22Ter