Canonical Allele Identifier: CA1369482

Gene: CR1

Linked Data

• dbSNP Id: rs564050886
• ExAC: 1:207697128 T / C
• gnomAD v2: 1-207697128-T-C
• gnomAD v3: 1-207523783-T-C
• gnomAD v4: 1-207523783-T-C
• MyVariant Identifiers: chr1:g.207697128T>C (hg19) ; chr1:g.207523783T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523783T>C , CM000663.2:g.207523783T>C	GRCh38
NC_000001.10:g.207697128T>C , CM000663.1:g.207697128T>C	GRCh37
NC_000001.9:g.205763751T>C	NCBI36
NG_007481.1:g.32656T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.660T>C MANE Select	ENSP00000356016.4:p.Asp220=
ENST00000367051.6:c.487+12129T>C	ENSP00000356018.1:n.487+12129T>C
ENST00000367052.6:c.660T>C	ENSP00000356019.1:p.Asp220=
ENST00000367053.6:c.660T>C	ENSP00000356020.1:p.Asp220=
ENST00000400960.7:c.660T>C	ENSP00000383744.2:p.Asp220=
ENST00000367049.8:c.660T>C	ENSP00000356016.4:p.Asp220=
ENST00000367050.8:n.781T>C
ENST00000367051.5:c.487+12129T>C	ENSP00000356018.1:n.487+12129T>C
ENST00000367052.5:c.660T>C	ENSP00000356019.1:p.Asp220=
ENST00000367053.5:c.660T>C	ENSP00000356020.1:p.Asp220=
ENST00000400960.6:c.660T>C	ENSP00000383744.2:p.Asp220=
ENST00000434033.5:n.587T>C
ENST00000436595.1:n.414+12129T>C
ENST00000450439.5:n.587T>C
ENST00000529814.1:c.587T>C
ENST00000534202.5:c.660T>C	ENSP00000436139.2:p.Asp220=
NM_000573.3:c.660T>C	NP_000564.2:p.Asp220=
NM_000651.4:c.660T>C	NP_000642.3:p.Asp220=
XM_006711166.2:c.675T>C	XP_006711229.1:p.Asp225=
XM_011509205.1:c.675T>C	XP_011507507.1:p.Asp225=
NM_000651.5:c.660T>C	NP_000642.3:p.Asp220=
XM_024453287.1:c.675T>C	XP_024309055.1:p.Asp225=
NM_000573.4:c.660T>C	NP_000564.2:p.Asp220=
NM_000651.6:c.660T>C MANE Select	NP_000642.3:p.Asp220=