Canonical Allele Identifier: CA8532915
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 283220
ClinVar RCV Id: RCV000394250 RCV000468740 RCV000769483 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)
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'