Canonical Allele Identifier: CA1370430

Gene: CR1

Linked Data

• dbSNP Id: rs759061317
• ExAC: 1:207785112 G / C
• gnomAD v2: 1-207785112-G-C
• gnomAD v4: 1-207611767-G-C
• MyVariant Identifiers: chr1:g.207785112G>C (hg19) ; chr1:g.207611767G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611767G>C , CM000663.2:g.207611767G>C	GRCh38
NC_000001.10:g.207785112G>C , CM000663.1:g.207785112G>C	GRCh37
NC_000001.9:g.205851735G>C	NCBI36
NG_007481.1:g.120640G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6386G>C MANE Select	ENSP00000356016.4:p.Cys2129Ser
ENST00000367051.6:c.5036G>C	ENSP00000356018.1:p.Cys1679Ser
ENST00000367052.6:c.5036G>C	ENSP00000356019.1:p.Cys1679Ser
ENST00000367053.6:c.5036G>C	ENSP00000356020.1:p.Cys1679Ser
ENST00000400960.7:c.5036G>C	ENSP00000383744.2:p.Cys1679Ser
ENST00000367049.8:c.6386G>C	ENSP00000356016.4:p.Cys2129Ser
ENST00000367051.5:c.5036G>C	ENSP00000356018.1:p.Cys1679Ser
ENST00000367052.5:c.5036G>C	ENSP00000356019.1:p.Cys1679Ser
ENST00000367053.5:c.5036G>C	ENSP00000356020.1:p.Cys1679Ser
ENST00000400960.6:c.5036G>C	ENSP00000383744.2:p.Cys1679Ser
ENST00000529814.1:c.1180-4808G>C
NM_000573.3:c.5036G>C	NP_000564.2:p.Cys1679Ser
NM_000651.4:c.6386G>C	NP_000642.3:p.Cys2129Ser
XM_006711166.2:c.6401G>C	XP_006711229.1:p.Cys2134Ser
XM_011509205.1:c.6401G>C	XP_011507507.1:p.Cys2134Ser
NM_000651.5:c.6386G>C	NP_000642.3:p.Cys2129Ser
XM_024453287.1:c.5051G>C	XP_024309055.1:p.Cys1684Ser
NM_000573.4:c.5036G>C	NP_000564.2:p.Cys1679Ser
NM_000651.6:c.6386G>C MANE Select	NP_000642.3:p.Cys2129Ser