Canonical Allele Identifier: CA8532873

Gene: TCAP

Linked Data

• ClinVar Variation Id: 239546
• ClinVar RCV Id: RCV000226693 ; RCV000607795 ; RCV002408970
• dbSNP Id: rs771585295
• ExAC: 17:37822050 G / A
• gnomAD v2: 17-37822050-G-A
• gnomAD v3: 17-39665797-G-A
• gnomAD v4: 17-39665797-G-A
• MyVariant Identifiers: chr17:g.37822050G>A (hg19) ; chr17:g.39665797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665797G>A , CM000679.2:g.39665797G>A	GRCh38
NC_000017.10:g.37822050G>A , CM000679.1:g.37822050G>A	GRCh37
NC_000017.9:g.35075576G>A	NCBI36
NG_008892.1:g.5452G>A , LRG_210:g.5452G>A
NG_042278.1:g.2817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.192G>A MANE Select	ENSP00000312624.2:p.Ser64=
ENST00000309889.2:c.192G>A	ENSP00000312624.2:p.Ser64=
ENST00000578283.1:c.174+18G>A	ENSP00000462787.1:n.174+18G>A
NM_003673.3:c.192G>A , LRG_210t1:c.192G>A	NP_003664.1:p.Ser64=
NM_003673.4:c.192G>A MANE Select	NP_003664.1:p.Ser64=