Canonical Allele Identifier: CA344519553

Gene: CR1

Linked Data

• dbSNP Id: rs1343627391
• gnomAD v2: 1-207696976-C-A
• gnomAD v3: 1-207523631-C-A
• gnomAD v4: 1-207523631-C-A
• MyVariant Identifiers: chr1:g.207696976C>A (hg19) ; chr1:g.207523631C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523631C>A , CM000663.2:g.207523631C>A	GRCh38
NC_000001.10:g.207696976C>A , CM000663.1:g.207696976C>A	GRCh37
NC_000001.9:g.205763599C>A	NCBI36
NG_007481.1:g.32504C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.508C>A MANE Select	ENSP00000356016.4:p.Pro170Thr
ENST00000367051.6:c.487+11977C>A	ENSP00000356018.1:n.487+11977C>A
ENST00000367052.6:c.508C>A	ENSP00000356019.1:p.Pro170Thr
ENST00000367053.6:c.508C>A	ENSP00000356020.1:p.Pro170Thr
ENST00000400960.7:c.508C>A	ENSP00000383744.2:p.Pro170Thr
ENST00000367049.8:c.508C>A	ENSP00000356016.4:p.Pro170Thr
ENST00000367050.8:n.629C>A
ENST00000367051.5:c.487+11977C>A	ENSP00000356018.1:n.487+11977C>A
ENST00000367052.5:c.508C>A	ENSP00000356019.1:p.Pro170Thr
ENST00000367053.5:c.508C>A	ENSP00000356020.1:p.Pro170Thr
ENST00000400960.6:c.508C>A	ENSP00000383744.2:p.Pro170Thr
ENST00000434033.5:n.435C>A
ENST00000436595.1:n.414+11977C>A
ENST00000450439.5:n.435C>A
ENST00000529814.1:c.435C>A
ENST00000534202.5:c.508C>A	ENSP00000436139.2:p.Pro170Thr
NM_000573.3:c.508C>A	NP_000564.2:p.Pro170Thr
NM_000651.4:c.508C>A	NP_000642.3:p.Pro170Thr
XM_006711166.2:c.523C>A	XP_006711229.1:p.Pro175Thr
XM_011509205.1:c.523C>A	XP_011507507.1:p.Pro175Thr
NM_000651.5:c.508C>A	NP_000642.3:p.Pro170Thr
XM_024453287.1:c.523C>A	XP_024309055.1:p.Pro175Thr
NM_000573.4:c.508C>A	NP_000564.2:p.Pro170Thr
NM_000651.6:c.508C>A MANE Select	NP_000642.3:p.Pro170Thr