Canonical Allele Identifier: CA399305475

Gene: TCAP

Linked Data

• dbSNP Id: rs1324156287
• MyVariant Identifiers: chr17:g.37822244A>T (hg19) ; chr17:g.39665991A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665991A>T , CM000679.2:g.39665991A>T	GRCh38
NC_000017.10:g.37822244A>T , CM000679.1:g.37822244A>T	GRCh37
NC_000017.9:g.35075770A>T	NCBI36
NG_008892.1:g.5646A>T , LRG_210:g.5646A>T
NG_042278.1:g.3011A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.386A>T MANE Select	ENSP00000312624.2:p.Asp129Val
ENST00000309889.2:c.386A>T	ENSP00000312624.2:p.Asp129Val
ENST00000578283.1:c.314A>T	ENSP00000462787.1:p.Asp105Val
NM_003673.3:c.386A>T , LRG_210t1:c.386A>T	NP_003664.1:p.Asp129Val
NM_003673.4:c.386A>T MANE Select	NP_003664.1:p.Asp129Val