Canonical Allele Identifier: CA181033

Gene: TCAP

Linked Data

• ClinVar Variation Id: 177939
• ClinVar RCV Id: RCV000154598 ; RCV000232686 ; RCV000248260 ; RCV000770524 ; RCV001126347 ; RCV001126346 ; RCV001529978
• dbSNP Id: rs45495192
• ExAC: 17:37821644 C / T
• gnomAD v2: 17-37821644-C-T
• gnomAD v3: 17-39665391-C-T
• gnomAD v4: 17-39665391-C-T
• MyVariant Identifiers: chr17:g.37821644C>T (hg19) ; chr17:g.37821644_37821647delinsTGGA (hg19) ; chr17:g.39665391C>T (hg38) ; chr17:g.39665391_39665394delinsTGGA (hg38)
• PubMed: PMID:24503780 ; PMID:25351510

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665391C>T , CM000679.2:g.39665391C>T	GRCh38
NC_000017.10:g.37821644C>T , CM000679.1:g.37821644C>T	GRCh37
NC_000017.9:g.35075170C>T	NCBI36
NG_008892.1:g.5046C>T , LRG_210:g.5046C>T
NG_042278.1:g.2411C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.32C>T MANE Select	ENSP00000312624.2:p.Ser11Leu
ENST00000309889.2:c.32C>T	ENSP00000312624.2:p.Ser11Leu
ENST00000578283.1:c.32C>T	ENSP00000462787.1:p.Ser11Leu
NM_003673.3:c.32C>T , LRG_210t1:c.32C>T	NP_003664.1:p.Ser11Leu
NM_003673.4:c.32C>T MANE Select	NP_003664.1:p.Ser11Leu