Canonical Allele Identifier: CA10649179

Gene: TCAP

Linked Data

• ClinVar Variation Id: 323047
• ClinVar RCV Id: RCV000298043 ; RCV000399403 ; RCV001534969
• dbSNP Id: rs45506294
• gnomAD v2: 17-37822438-G-T
• gnomAD v3: 17-39666185-G-T
• gnomAD v4: 17-39666185-G-T
• MyVariant Identifiers: chr17:g.37822438G>T (hg19) ; chr17:g.39666185G>T (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39666185G>T , CM000679.2:g.39666185G>T	GRCh38
NC_000017.10:g.37822438G>T , CM000679.1:g.37822438G>T	GRCh37
NC_000017.9:g.35075964G>T	NCBI36
NG_008892.1:g.5840G>T , LRG_210:g.5840G>T
NG_042278.1:g.3205G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.*76G>T MANE Select	ENSP00000312624.2:n.*76G>T
ENST00000309889.2:c.*76G>T	ENSP00000312624.2:n.*76G>T
ENST00000578283.1:c.*76G>T	ENSP00000462787.1:n.*76G>T
NM_003673.3:c.*76G>T , LRG_210t1:c.*76G>T	NP_003664.1:n.*76G>T
NM_003673.4:c.*76G>T MANE Select	NP_003664.1:n.*76G>T