Canonical Allele Identifier: CA399304658
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1794180
ClinVar RCV Id: RCV002428630

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665868T>A , CM000679.2:g.39665868T>A GRCh38
NC_000017.10:g.37822121T>A , CM000679.1:g.37822121T>A GRCh37
NC_000017.9:g.35075647T>A NCBI36
NG_008892.1:g.5523T>A , LRG_210:g.5523T>A
NG_042278.1:g.2888T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000309889.3:c.263T>A MANE Select ENSP00000312624.2:p.Val88Glu
ENST00000309889.2:c.263T>A ENSP00000312624.2:p.Val88Glu
ENST00000578283.1:c.191T>A ENSP00000462787.1:p.Val64Glu
NM_003673.3:c.263T>A , LRG_210t1:c.263T>A NP_003664.1:p.Val88Glu
NM_003673.4:c.263T>A MANE Select NP_003664.1:p.Val88Glu