Canonical Allele Identifier: CA344545067

Gene: CR1

Linked Data

• dbSNP Id: rs373376403
• gnomAD v2: 1-207785091-G-A
• gnomAD v4: 1-207611746-G-A
• MyVariant Identifiers: chr1:g.207785091G>A (hg19) ; chr1:g.207611746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611746G>A , CM000663.2:g.207611746G>A	GRCh38
NC_000001.10:g.207785091G>A , CM000663.1:g.207785091G>A	GRCh37
NC_000001.9:g.205851714G>A	NCBI36
NG_007481.1:g.120619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6365G>A MANE Select	ENSP00000356016.4:p.Gly2122Glu
ENST00000367051.6:c.5015G>A	ENSP00000356018.1:p.Gly1672Glu
ENST00000367052.6:c.5015G>A	ENSP00000356019.1:p.Gly1672Glu
ENST00000367053.6:c.5015G>A	ENSP00000356020.1:p.Gly1672Glu
ENST00000400960.7:c.5015G>A	ENSP00000383744.2:p.Gly1672Glu
ENST00000367049.8:c.6365G>A	ENSP00000356016.4:p.Gly2122Glu
ENST00000367051.5:c.5015G>A	ENSP00000356018.1:p.Gly1672Glu
ENST00000367052.5:c.5015G>A	ENSP00000356019.1:p.Gly1672Glu
ENST00000367053.5:c.5015G>A	ENSP00000356020.1:p.Gly1672Glu
ENST00000400960.6:c.5015G>A	ENSP00000383744.2:p.Gly1672Glu
ENST00000529814.1:c.1180-4829G>A
NM_000573.3:c.5015G>A	NP_000564.2:p.Gly1672Glu
NM_000651.4:c.6365G>A	NP_000642.3:p.Gly2122Glu
XM_006711166.2:c.6380G>A	XP_006711229.1:p.Gly2127Glu
XM_011509205.1:c.6380G>A	XP_011507507.1:p.Gly2127Glu
NM_000651.5:c.6365G>A	NP_000642.3:p.Gly2122Glu
XM_024453287.1:c.5030G>A	XP_024309055.1:p.Gly1677Glu
NM_000573.4:c.5015G>A	NP_000564.2:p.Gly1672Glu
NM_000651.6:c.6365G>A MANE Select	NP_000642.3:p.Gly2122Glu