Canonical Allele Identifier: CA344520425

Gene: CR1

Linked Data

• dbSNP Id: rs1193039629
• gnomAD v2: 1-207697114-A-G
• gnomAD v4: 1-207523769-A-G
• MyVariant Identifiers: chr1:g.207697114A>G (hg19) ; chr1:g.207523769A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523769A>G , CM000663.2:g.207523769A>G	GRCh38
NC_000001.10:g.207697114A>G , CM000663.1:g.207697114A>G	GRCh37
NC_000001.9:g.205763737A>G	NCBI36
NG_007481.1:g.32642A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.646A>G MANE Select	ENSP00000356016.4:p.Thr216Ala
ENST00000367051.6:c.487+12115A>G	ENSP00000356018.1:n.487+12115A>G
ENST00000367052.6:c.646A>G	ENSP00000356019.1:p.Thr216Ala
ENST00000367053.6:c.646A>G	ENSP00000356020.1:p.Thr216Ala
ENST00000400960.7:c.646A>G	ENSP00000383744.2:p.Thr216Ala
ENST00000367049.8:c.646A>G	ENSP00000356016.4:p.Thr216Ala
ENST00000367050.8:n.767A>G
ENST00000367051.5:c.487+12115A>G	ENSP00000356018.1:n.487+12115A>G
ENST00000367052.5:c.646A>G	ENSP00000356019.1:p.Thr216Ala
ENST00000367053.5:c.646A>G	ENSP00000356020.1:p.Thr216Ala
ENST00000400960.6:c.646A>G	ENSP00000383744.2:p.Thr216Ala
ENST00000434033.5:n.573A>G
ENST00000436595.1:n.414+12115A>G
ENST00000450439.5:n.573A>G
ENST00000529814.1:c.573A>G
ENST00000534202.5:c.646A>G	ENSP00000436139.2:p.Thr216Ala
NM_000573.3:c.646A>G	NP_000564.2:p.Thr216Ala
NM_000651.4:c.646A>G	NP_000642.3:p.Thr216Ala
XM_006711166.2:c.661A>G	XP_006711229.1:p.Thr221Ala
XM_011509205.1:c.661A>G	XP_011507507.1:p.Thr221Ala
NM_000651.5:c.646A>G	NP_000642.3:p.Thr216Ala
XM_024453287.1:c.661A>G	XP_024309055.1:p.Thr221Ala
NM_000573.4:c.646A>G	NP_000564.2:p.Thr216Ala
NM_000651.6:c.646A>G MANE Select	NP_000642.3:p.Thr216Ala