Canonical Allele Identifier: CA2483456544

Gene: CR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611759C= , CM000663.2:g.207611759C=	GRCh38
NC_000001.10:g.207785104C= , CM000663.1:g.207785104C=	GRCh37
NC_000001.9:g.205851727C=	NCBI36
NG_007481.1:g.120632C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6378C= MANE Select	ENSP00000356016.4:p.Phe2126=
ENST00000367051.6:c.5028C=	ENSP00000356018.1:p.Phe1676=
ENST00000367052.6:c.5028C=	ENSP00000356019.1:p.Phe1676=
ENST00000367053.6:c.5028C=	ENSP00000356020.1:p.Phe1676=
ENST00000400960.7:c.5028C=	ENSP00000383744.2:p.Phe1676=
ENST00000367049.8:c.6378C=	ENSP00000356016.4:p.Phe2126=
ENST00000367051.5:c.5028C=	ENSP00000356018.1:p.Phe1676=
ENST00000367052.5:c.5028C=	ENSP00000356019.1:p.Phe1676=
ENST00000367053.5:c.5028C=	ENSP00000356020.1:p.Phe1676=
ENST00000400960.6:c.5028C=	ENSP00000383744.2:p.Phe1676=
ENST00000529814.1:c.1180-4816C=
NM_000573.3:c.5028C=	NP_000564.2:p.Phe1676=
NM_000651.4:c.6378C=	NP_000642.3:p.Phe2126=
XM_006711166.2:c.6393C=	XP_006711229.1:p.Phe2131=
XM_011509205.1:c.6393C=	XP_011507507.1:p.Phe2131=
NM_000651.5:c.6378C=	NP_000642.3:p.Phe2126=
XM_024453287.1:c.5043C=	XP_024309055.1:p.Phe1681=
NM_000573.4:c.5028C=	NP_000564.2:p.Phe1676=
NM_000651.6:c.6378C= MANE Select	NP_000642.3:p.Phe2126=