Canonical Allele Identifier: CA8532915

Gene: TCAP

Linked Data

• ClinVar Variation Id: 283220
• ClinVar RCV Id: RCV000468740 ; RCV000769483 ; RCV000394250 ; RCV001332307 ; RCV002338832
• dbSNP Id: rs755539784
• ExAC: 17:37822318 C / T
• gnomAD v2: 17-37822318-C-T
• gnomAD v3: 17-39666065-C-T
• gnomAD v4: 17-39666065-C-T
• MyVariant Identifiers: chr17:g.37822318C>T (hg19) ; chr17:g.39666065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39666065C>T , CM000679.2:g.39666065C>T	GRCh38
NC_000017.10:g.37822318C>T , CM000679.1:g.37822318C>T	GRCh37
NC_000017.9:g.35075844C>T	NCBI36
NG_008892.1:g.5720C>T , LRG_210:g.5720C>T
NG_042278.1:g.3085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.460C>T MANE Select	ENSP00000312624.2:p.Arg154Cys
ENST00000309889.2:c.460C>T	ENSP00000312624.2:p.Arg154Cys
ENST00000578283.1:c.388C>T	ENSP00000462787.1:p.Arg130Cys
NM_003673.3:c.460C>T , LRG_210t1:c.460C>T	NP_003664.1:p.Arg154Cys
NM_003673.4:c.460C>T MANE Select	NP_003664.1:p.Arg154Cys