Canonical Allele Identifier: CA8532876

Gene: TCAP

Linked Data

• ClinVar Variation Id: 520315
• ClinVar RCV Id: RCV000618203 ; RCV001037268
• dbSNP Id: rs770133993
• ExAC: 17:37822060 A / T
• gnomAD v2: 17-37822060-A-T
• gnomAD v4: 17-39665807-A-T
• MyVariant Identifiers: chr17:g.37822060A>T (hg19) ; chr17:g.39665807A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665807A>T , CM000679.2:g.39665807A>T	GRCh38
NC_000017.10:g.37822060A>T , CM000679.1:g.37822060A>T	GRCh37
NC_000017.9:g.35075586A>T	NCBI36
NG_008892.1:g.5462A>T , LRG_210:g.5462A>T
NG_042278.1:g.2827A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.202A>T MANE Select	ENSP00000312624.2:p.Met68Leu
ENST00000309889.2:c.202A>T	ENSP00000312624.2:p.Met68Leu
ENST00000578283.1:c.174+28A>T	ENSP00000462787.1:n.174+28A>T
NM_003673.3:c.202A>T , LRG_210t1:c.202A>T	NP_003664.1:p.Met68Leu
NM_003673.4:c.202A>T MANE Select	NP_003664.1:p.Met68Leu