Canonical Allele Identifier: CA399305168
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1019936
ClinVar RCV Id: RCV001319440
dbSNP Id: rs2057251976

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665936A>C , CM000679.2:g.39665936A>C GRCh38
NC_000017.10:g.37822189A>C , CM000679.1:g.37822189A>C GRCh37
NC_000017.9:g.35075715A>C NCBI36
NG_008892.1:g.5591A>C , LRG_210:g.5591A>C
NG_042278.1:g.2956A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.331A>C MANE Select ENSP00000312624.2:p.Ile111Leu
ENST00000309889.2:c.331A>C ENSP00000312624.2:p.Ile111Leu
ENST00000578283.1:c.259A>C ENSP00000462787.1:p.Ile87Leu
NM_003673.3:c.331A>C , LRG_210t1:c.331A>C NP_003664.1:p.Ile111Leu
NM_003673.4:c.331A>C MANE Select NP_003664.1:p.Ile111Leu