Canonical Allele Identifier: CA344545125

Gene: CR1

Linked Data

• MyVariant Identifiers: chr1:g.207785116G>T (hg19) ; chr1:g.207611771G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611771G>T , CM000663.2:g.207611771G>T	GRCh38
NC_000001.10:g.207785116G>T , CM000663.1:g.207785116G>T	GRCh37
NC_000001.9:g.205851739G>T	NCBI36
NG_007481.1:g.120644G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6390G>T MANE Select	ENSP00000356016.4:p.Glu2130Asp
ENST00000367051.6:c.5040G>T	ENSP00000356018.1:p.Glu1680Asp
ENST00000367052.6:c.5040G>T	ENSP00000356019.1:p.Glu1680Asp
ENST00000367053.6:c.5040G>T	ENSP00000356020.1:p.Glu1680Asp
ENST00000400960.7:c.5040G>T	ENSP00000383744.2:p.Glu1680Asp
ENST00000367049.8:c.6390G>T	ENSP00000356016.4:p.Glu2130Asp
ENST00000367051.5:c.5040G>T	ENSP00000356018.1:p.Glu1680Asp
ENST00000367052.5:c.5040G>T	ENSP00000356019.1:p.Glu1680Asp
ENST00000367053.5:c.5040G>T	ENSP00000356020.1:p.Glu1680Asp
ENST00000400960.6:c.5040G>T	ENSP00000383744.2:p.Glu1680Asp
ENST00000529814.1:c.1180-4804G>T
NM_000573.3:c.5040G>T	NP_000564.2:p.Glu1680Asp
NM_000651.4:c.6390G>T	NP_000642.3:p.Glu2130Asp
XM_006711166.2:c.6405G>T	XP_006711229.1:p.Glu2135Asp
XM_011509205.1:c.6405G>T	XP_011507507.1:p.Glu2135Asp
NM_000651.5:c.6390G>T	NP_000642.3:p.Glu2130Asp
XM_024453287.1:c.5055G>T	XP_024309055.1:p.Glu1685Asp
NM_000573.4:c.5040G>T	NP_000564.2:p.Glu1680Asp
NM_000651.6:c.6390G>T MANE Select	NP_000642.3:p.Glu2130Asp