Canonical Allele Identifier: CA399304716
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1472034
ClinVar RCV Id: RCV002002795
dbSNP Id: rs727504427

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665874C>A , CM000679.2:g.39665874C>A GRCh38
NC_000017.10:g.37822127C>A , CM000679.1:g.37822127C>A GRCh37
NC_000017.9:g.35075653C>A NCBI36
NG_008892.1:g.5529C>A , LRG_210:g.5529C>A
NG_042278.1:g.2894C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000309889.3:c.269C>A MANE Select ENSP00000312624.2:p.Pro90Gln
ENST00000309889.2:c.269C>A ENSP00000312624.2:p.Pro90Gln
ENST00000578283.1:c.197C>A ENSP00000462787.1:p.Pro66Gln
NM_003673.3:c.269C>A , LRG_210t1:c.269C>A NP_003664.1:p.Pro90Gln
NM_003673.4:c.269C>A MANE Select NP_003664.1:p.Pro90Gln