Canonical Allele Identifier: CA249987

Gene: TCAP

Linked Data

• ClinVar Variation Id: 189789
• ClinVar RCV Id: RCV000170303 ; RCV000172108 ; RCV000382675 ; RCV000536183 ; RCV002505226 ; RCV003162725
• dbSNP Id: rs775636212
• ExAC: 17:37822066 C / T
• gnomAD v2: 17-37822066-C-T
• gnomAD v3: 17-39665813-C-T
• gnomAD v4: 17-39665813-C-T
• MyVariant Identifiers: chr17:g.37822066C>T (hg19) ; chr17:g.39665813C>T (hg38)
• PubMed: PMID:16352453 ; PMID:17097056 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665813C>T , CM000679.2:g.39665813C>T	GRCh38
NC_000017.10:g.37822066C>T , CM000679.1:g.37822066C>T	GRCh37
NC_000017.9:g.35075592C>T	NCBI36
NG_008892.1:g.5468C>T , LRG_210:g.5468C>T
NG_042278.1:g.2833C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.208C>T MANE Select	ENSP00000312624.2:p.Arg70Trp
ENST00000309889.2:c.208C>T	ENSP00000312624.2:p.Arg70Trp
ENST00000578283.1:c.174+34C>T	ENSP00000462787.1:n.174+34C>T
NM_003673.3:c.208C>T , LRG_210t1:c.208C>T	NP_003664.1:p.Arg70Trp
NM_003673.4:c.208C>T MANE Select	NP_003664.1:p.Arg70Trp