Canonical Allele Identifier: CA308826

Gene: TCAP

Linked Data

• ClinVar Variation Id: 202105
• ClinVar RCV Id: RCV000617934 ; RCV000713783 ; RCV001079164 ; RCV001256811 ; RCV000769481 ; RCV003927715
• dbSNP Id: rs143233087
• ExAC: 17:37822211 C / T
• gnomAD v2: 17-37822211-C-T
• gnomAD v3: 17-39665958-C-T
• gnomAD v4: 17-39665958-C-T
• MyVariant Identifiers: chr17:g.37822211C>T (hg19) ; chr17:g.39665958C>T (hg38)
• PubMed: PMID:24037902 ; PMID:25351510

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665958C>T , CM000679.2:g.39665958C>T	GRCh38
NC_000017.10:g.37822211C>T , CM000679.1:g.37822211C>T	GRCh37
NC_000017.9:g.35075737C>T	NCBI36
NG_008892.1:g.5613C>T , LRG_210:g.5613C>T
NG_042278.1:g.2978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.353C>T MANE Select	ENSP00000312624.2:p.Ala118Val
ENST00000309889.2:c.353C>T	ENSP00000312624.2:p.Ala118Val
ENST00000578283.1:c.281C>T	ENSP00000462787.1:p.Ala94Val
NM_003673.3:c.353C>T , LRG_210t1:c.353C>T	NP_003664.1:p.Ala118Val
NM_003673.4:c.353C>T MANE Select	NP_003664.1:p.Ala118Val