Canonical Allele Identifier: CA338567721

Gene: CTRC

Linked Data

• MyVariant Identifiers: chr1:g.15772117G>T (hg19) ; chr1:g.15445622G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445622G>T , CM000663.2:g.15445622G>T	GRCh38
NC_000001.10:g.15772117G>T , CM000663.1:g.15772117G>T	GRCh37
NC_000001.9:g.15644704G>T	NCBI36
NG_009253.1:g.12180G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.665G>T MANE Select	ENSP00000365116.4:p.Cys222Phe
ENST00000375943.6:c.*119G>T	ENSP00000365110.2:n.*119G>T
ENST00000375949.4:c.665G>T	ENSP00000365116.4:p.Cys222Phe
ENST00000483406.1:n.429G>T
NM_007272.2:c.665G>T	NP_009203.2:p.Cys222Phe
XM_011540550.1:c.519G>T	XP_011538852.1:p.Leu173=
NM_007272.3:c.665G>T MANE Select	NP_009203.2:p.Cys222Phe