Canonical Allele Identifier: CA8532885
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 950331
ClinVar RCV Id: RCV001222019
dbSNP Id: rs756715463

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665867G>T , CM000679.2:g.39665867G>T GRCh38
NC_000017.10:g.37822120G>T , CM000679.1:g.37822120G>T GRCh37
NC_000017.9:g.35075646G>T NCBI36
NG_008892.1:g.5522G>T , LRG_210:g.5522G>T
NG_042278.1:g.2887G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.262G>T MANE Select ENSP00000312624.2:p.Val88Leu
ENST00000309889.2:c.262G>T ENSP00000312624.2:p.Val88Leu
ENST00000578283.1:c.190G>T ENSP00000462787.1:p.Val64Leu
NM_003673.3:c.262G>T , LRG_210t1:c.262G>T NP_003664.1:p.Val88Leu
NM_003673.4:c.262G>T MANE Select NP_003664.1:p.Val88Leu