Canonical Allele Identifier: CA399304725
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1795156
ClinVar RCV Id: RCV002431255

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665876C>A , CM000679.2:g.39665876C>A GRCh38
NC_000017.10:g.37822129C>A , CM000679.1:g.37822129C>A GRCh37
NC_000017.9:g.35075655C>A NCBI36
NG_008892.1:g.5531C>A , LRG_210:g.5531C>A
NG_042278.1:g.2896C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000309889.3:c.271C>A MANE Select ENSP00000312624.2:p.Leu91Met
ENST00000309889.2:c.271C>A ENSP00000312624.2:p.Leu91Met
ENST00000578283.1:c.199C>A ENSP00000462787.1:p.Leu67Met
NM_003673.3:c.271C>A , LRG_210t1:c.271C>A NP_003664.1:p.Leu91Met
NM_003673.4:c.271C>A MANE Select NP_003664.1:p.Leu91Met