Canonical Allele Identifier: CA2483456538

Gene: CR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611737T= , CM000663.2:g.207611737T=	GRCh38
NC_000001.10:g.207785082T= , CM000663.1:g.207785082T=	GRCh37
NC_000001.9:g.205851705T=	NCBI36
NG_007481.1:g.120610T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6356T= MANE Select	ENSP00000356016.4:p.Phe2119=
ENST00000367051.6:c.5006T=	ENSP00000356018.1:p.Phe1669=
ENST00000367052.6:c.5006T=	ENSP00000356019.1:p.Phe1669=
ENST00000367053.6:c.5006T=	ENSP00000356020.1:p.Phe1669=
ENST00000400960.7:c.5006T=	ENSP00000383744.2:p.Phe1669=
ENST00000367049.8:c.6356T=	ENSP00000356016.4:p.Phe2119=
ENST00000367051.5:c.5006T=	ENSP00000356018.1:p.Phe1669=
ENST00000367052.5:c.5006T=	ENSP00000356019.1:p.Phe1669=
ENST00000367053.5:c.5006T=	ENSP00000356020.1:p.Phe1669=
ENST00000400960.6:c.5006T=	ENSP00000383744.2:p.Phe1669=
ENST00000529814.1:c.1180-4838T=
NM_000573.3:c.5006T=	NP_000564.2:p.Phe1669=
NM_000651.4:c.6356T=	NP_000642.3:p.Phe2119=
XM_006711166.2:c.6371T=	XP_006711229.1:p.Phe2124=
XM_011509205.1:c.6371T=	XP_011507507.1:p.Phe2124=
NM_000651.5:c.6356T=	NP_000642.3:p.Phe2119=
XM_024453287.1:c.5021T=	XP_024309055.1:p.Phe1674=
NM_000573.4:c.5006T=	NP_000564.2:p.Phe1669=
NM_000651.6:c.6356T= MANE Select	NP_000642.3:p.Phe2119=