Canonical Allele Identifier: CA119351

Gene: CTRC

Linked Data

• ClinVar Variation Id: 8178
• ClinVar RCV Id: RCV000008657 ; RCV000119045 ; RCV002247276 ; RCV003421912
• dbSNP Id: rs121909293
• ExAC: 1:15772212 C / T
• gnomAD v2: 1-15772212-C-T
• gnomAD v3: 1-15445717-C-T
• gnomAD v4: 1-15445717-C-T
• MyVariant Identifiers: chr1:g.15772212C>T (hg19) ; chr1:g.15445717C>T (hg38)
• PubMed: PMID:18059268 ; PMID:18172691 ; PMID:19404200 ; PMID:24624459

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445717C>T , CM000663.2:g.15445717C>T	GRCh38
NC_000001.10:g.15772212C>T , CM000663.1:g.15772212C>T	GRCh37
NC_000001.9:g.15644799C>T	NCBI36
NG_009253.1:g.12275C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.760C>T MANE Select	ENSP00000365116.4:p.Arg254Trp
ENST00000375943.6:c.*214C>T	ENSP00000365110.2:n.*214C>T
ENST00000375949.4:c.760C>T	ENSP00000365116.4:p.Arg254Trp
ENST00000483406.1:n.524C>T
NM_007272.2:c.760C>T	NP_009203.2:p.Arg254Trp
XM_011540550.1:c.614C>T	XP_011538852.1:p.Pro205Leu
NM_007272.3:c.760C>T MANE Select	NP_009203.2:p.Arg254Trp