Canonical Allele Identifier: CA416207367

Gene: CTRC

Linked Data

• MyVariant Identifiers: chr1:g.15772145G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445650G>T , CM000663.2:g.15445650G>T	GRCh38
NC_000001.10:g.15772145G>T , CM000663.1:g.15772145G>T	GRCh37
NC_000001.9:g.15644732G>T	NCBI36
NG_009253.1:g.12208G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.693G>T MANE Select	ENSP00000365116.4:p.Val231=
ENST00000375943.6:c.*147G>T	ENSP00000365110.2:n.*147G>T
ENST00000375949.4:c.693G>T	ENSP00000365116.4:p.Val231=
ENST00000483406.1:n.457G>T
NM_007272.2:c.693G>T	NP_009203.2:p.Val231=
XM_011540550.1:c.547G>T	XP_011538852.1:p.Val183Phe
NM_007272.3:c.693G>T MANE Select	NP_009203.2:p.Val231=