Canonical Allele Identifier: CA344522221

Gene: CR1

Linked Data

• dbSNP Id: rs1391406413
• gnomAD v2: 1-207697213-G-C
• gnomAD v4: 1-207523868-G-C
• MyVariant Identifiers: chr1:g.207697213G>C (hg19) ; chr1:g.207523868G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523868G>C , CM000663.2:g.207523868G>C	GRCh38
NC_000001.10:g.207697213G>C , CM000663.1:g.207697213G>C	GRCh37
NC_000001.9:g.205763836G>C	NCBI36
NG_007481.1:g.32741G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.745G>C MANE Select	ENSP00000356016.4:p.Val249Leu
ENST00000367051.6:c.487+12214G>C	ENSP00000356018.1:n.487+12214G>C
ENST00000367052.6:c.745G>C	ENSP00000356019.1:p.Val249Leu
ENST00000367053.6:c.745G>C	ENSP00000356020.1:p.Val249Leu
ENST00000400960.7:c.745G>C	ENSP00000383744.2:p.Val249Leu
ENST00000367049.8:c.745G>C	ENSP00000356016.4:p.Val249Leu
ENST00000367050.8:n.866G>C
ENST00000367051.5:c.487+12214G>C	ENSP00000356018.1:n.487+12214G>C
ENST00000367052.5:c.745G>C	ENSP00000356019.1:p.Val249Leu
ENST00000367053.5:c.745G>C	ENSP00000356020.1:p.Val249Leu
ENST00000400960.6:c.745G>C	ENSP00000383744.2:p.Val249Leu
ENST00000434033.5:n.672G>C
ENST00000436595.1:n.414+12214G>C
ENST00000450439.5:n.672G>C
ENST00000529814.1:c.672G>C
ENST00000534202.5:c.745G>C	ENSP00000436139.2:p.Val249Leu
NM_000573.3:c.745G>C	NP_000564.2:p.Val249Leu
NM_000651.4:c.745G>C	NP_000642.3:p.Val249Leu
XM_006711166.2:c.760G>C	XP_006711229.1:p.Val254Leu
XM_011509205.1:c.760G>C	XP_011507507.1:p.Val254Leu
NM_000651.5:c.745G>C	NP_000642.3:p.Val249Leu
XM_024453287.1:c.760G>C	XP_024309055.1:p.Val254Leu
NM_000573.4:c.745G>C	NP_000564.2:p.Val249Leu
NM_000651.6:c.745G>C MANE Select	NP_000642.3:p.Val249Leu