Canonical Allele Identifier: CA422957642

Gene: CR1

Linked Data

• dbSNP Id: rs1660069492
• gnomAD v3: 1-207523732-G-A
• gnomAD v4: 1-207523732-G-A
• COSMIC: COSM1473348 ; COSM1473349
• MyVariant Identifiers: chr1:g.207697077G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523732G>A , CM000663.2:g.207523732G>A	GRCh38
NC_000001.10:g.207697077G>A , CM000663.1:g.207697077G>A	GRCh37
NC_000001.9:g.205763700G>A	NCBI36
NG_007481.1:g.32605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.609G>A MANE Select	ENSP00000356016.4:p.Lys203=
ENST00000367051.6:c.487+12078G>A	ENSP00000356018.1:n.487+12078G>A
ENST00000367052.6:c.609G>A	ENSP00000356019.1:p.Lys203=
ENST00000367053.6:c.609G>A	ENSP00000356020.1:p.Lys203=
ENST00000400960.7:c.609G>A	ENSP00000383744.2:p.Lys203=
ENST00000367049.8:c.609G>A	ENSP00000356016.4:p.Lys203=
ENST00000367050.8:n.730G>A
ENST00000367051.5:c.487+12078G>A	ENSP00000356018.1:n.487+12078G>A
ENST00000367052.5:c.609G>A	ENSP00000356019.1:p.Lys203=
ENST00000367053.5:c.609G>A	ENSP00000356020.1:p.Lys203=
ENST00000400960.6:c.609G>A	ENSP00000383744.2:p.Lys203=
ENST00000434033.5:n.536G>A
ENST00000436595.1:n.414+12078G>A
ENST00000450439.5:n.536G>A
ENST00000529814.1:c.536G>A
ENST00000534202.5:c.609G>A	ENSP00000436139.2:p.Lys203=
NM_000573.3:c.609G>A	NP_000564.2:p.Lys203=
NM_000651.4:c.609G>A	NP_000642.3:p.Lys203=
XM_006711166.2:c.624G>A	XP_006711229.1:p.Lys208=
XM_011509205.1:c.624G>A	XP_011507507.1:p.Lys208=
NM_000651.5:c.609G>A	NP_000642.3:p.Lys203=
XM_024453287.1:c.624G>A	XP_024309055.1:p.Lys208=
NM_000573.4:c.609G>A	NP_000564.2:p.Lys203=
NM_000651.6:c.609G>A MANE Select	NP_000642.3:p.Lys203=