Canonical Allele Identifier: CA10587902

Gene: TCAP

Linked Data

• ClinVar Variation Id: 263956
• ClinVar RCV Id: RCV000253296 ; RCV000597369 ; RCV000817159
• dbSNP Id: rs886038989
• gnomAD v2: 17-37821664-C-T
• gnomAD v3: 17-39665411-C-T
• gnomAD v4: 17-39665411-C-T
• MyVariant Identifiers: chr17:g.37821664C>T (hg19) ; chr17:g.39665411C>T (hg38)
• PubMed: PMID:19412328

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665411C>T , CM000679.2:g.39665411C>T	GRCh38
NC_000017.10:g.37821664C>T , CM000679.1:g.37821664C>T	GRCh37
NC_000017.9:g.35075190C>T	NCBI36
NG_008892.1:g.5066C>T , LRG_210:g.5066C>T
NG_042278.1:g.2431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.52C>T MANE Select	ENSP00000312624.2:p.Arg18Trp
ENST00000309889.2:c.52C>T	ENSP00000312624.2:p.Arg18Trp
ENST00000578283.1:c.52C>T	ENSP00000462787.1:p.Arg18Trp
NM_003673.3:c.52C>T , LRG_210t1:c.52C>T	NP_003664.1:p.Arg18Trp
NM_003673.4:c.52C>T MANE Select	NP_003664.1:p.Arg18Trp