Canonical Allele Identifier: CA613453

Gene: CTRC

Linked Data

• ClinVar Variation Id: 826915
• ClinVar RCV Id: RCV001229055
• dbSNP Id: rs771229796
• ExAC: 1:15772173 C / T
• gnomAD v2: 1-15772173-C-T
• gnomAD v3: 1-15445678-C-T
• gnomAD v4: 1-15445678-C-T
• COSMIC: COSM897579
• MyVariant Identifiers: chr1:g.15772173C>T (hg19) ; chr1:g.15772173_15772174delinsTG (hg19) ; chr1:g.15445678C>T (hg38) ; chr1:g.15445678_15445679delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445678C>T , CM000663.2:g.15445678C>T	GRCh38
NC_000001.10:g.15772173C>T , CM000663.1:g.15772173C>T	GRCh37
NC_000001.9:g.15644760C>T	NCBI36
NG_009253.1:g.12236C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.721C>T MANE Select	ENSP00000365116.4:p.Arg241Trp
ENST00000375943.6:c.*175C>T	ENSP00000365110.2:n.*175C>T
ENST00000375949.4:c.721C>T	ENSP00000365116.4:p.Arg241Trp
ENST00000483406.1:n.485C>T
NM_007272.2:c.721C>T	NP_009203.2:p.Arg241Trp
XM_011540550.1:c.575C>T	XP_011538852.1:p.Ala192Val
NM_007272.3:c.721C>T MANE Select	NP_009203.2:p.Arg241Trp