Canonical Allele Identifier: CA8532833

Gene: TCAP

Linked Data

• ClinVar Variation Id: 282451
• ClinVar RCV Id: RCV000393182 ; RCV000546126 ; RCV000656143 ; RCV001256965 ; RCV002480005 ; RCV002374456
• dbSNP Id: rs145524909
• ExAC: 17:37821709 C / T
• gnomAD v2: 17-37821709-C-T
• gnomAD v3: 17-39665456-C-T
• gnomAD v4: 17-39665456-C-T
• MyVariant Identifiers: chr17:g.37821709C>T (hg19) ; chr17:g.39665456C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665456C>T , CM000679.2:g.39665456C>T	GRCh38
NC_000017.10:g.37821709C>T , CM000679.1:g.37821709C>T	GRCh37
NC_000017.9:g.35075235C>T	NCBI36
NG_008892.1:g.5111C>T , LRG_210:g.5111C>T
NG_042278.1:g.2476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.97C>T MANE Select	ENSP00000312624.2:p.Arg33Trp
ENST00000309889.2:c.97C>T	ENSP00000312624.2:p.Arg33Trp
ENST00000578283.1:c.97C>T	ENSP00000462787.1:p.Arg33Trp
NM_003673.3:c.97C>T , LRG_210t1:c.97C>T	NP_003664.1:p.Arg33Trp
NM_003673.4:c.97C>T MANE Select	NP_003664.1:p.Arg33Trp