Canonical Allele Identifier: CA352101

Gene: TCAP

Linked Data

• ClinVar Variation Id: 222830
• ClinVar RCV Id: RCV000208505 ; RCV001045930 ; RCV002336583 ; RCV003137797
• dbSNP Id: rs869025530
• gnomAD v2: 17-37821661-C-T
• gnomAD v3: 17-39665408-C-T
• gnomAD v4: 17-39665408-C-T
• MyVariant Identifiers: chr17:g.37821661C>T (hg19) ; chr17:g.39665408C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665408C>T , CM000679.2:g.39665408C>T	GRCh38
NC_000017.10:g.37821661C>T , CM000679.1:g.37821661C>T	GRCh37
NC_000017.9:g.35075187C>T	NCBI36
NG_008892.1:g.5063C>T , LRG_210:g.5063C>T
NG_042278.1:g.2428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.49C>T MANE Select	ENSP00000312624.2:p.Arg17Cys
ENST00000309889.2:c.49C>T	ENSP00000312624.2:p.Arg17Cys
ENST00000578283.1:c.49C>T	ENSP00000462787.1:p.Arg17Cys
NM_003673.3:c.49C>T , LRG_210t1:c.49C>T	NP_003664.1:p.Arg17Cys
NM_003673.4:c.49C>T MANE Select	NP_003664.1:p.Arg17Cys