Canonical Allele Identifier: CA5896783

Gene: CYP2R1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14892029G>A , CM000673.2:g.14892029G>A	GRCh38
NC_000011.9:g.14913575G>A , CM000673.1:g.14913575G>A	GRCh37
NC_000011.8:g.14870151G>A	NCBI36
NG_007936.1:g.5177C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024514.5:c.177C>T MANE Select	NP_078790.2:p.Ser59=
ENST00000334636.10:c.177C>T MANE Select	ENSP00000334592.5:p.Ser59=
NM_001400558.1:c.-121+336C>T	NP_001387487.1:n.-121+336C>T
NM_024514.4:c.177C>T	NP_078790.2:p.Ser59=
ENST00000334636.9:c.177C>T	ENSP00000334592.5:p.Ser59=
XM_011519898.1:c.-121+336C>T	XP_011518200.1:n.-121+336C>T
XM_011519898.3:c.-121+336C>T	XP_011518200.1:n.-121+336C>T
XR_242777.2:n.230C>T
XR_242777.3:n.230C>T