Canonical Allele Identifier: CA36650055

Gene: CR1

Linked Data

• dbSNP Id: rs879220641
• MyVariant Identifiers: chr1:g.207697149C>G (hg19) ; chr1:g.207523804C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523804C>G , CM000663.2:g.207523804C>G	GRCh38
NC_000001.10:g.207697149C>G , CM000663.1:g.207697149C>G	GRCh37
NC_000001.9:g.205763772C>G	NCBI36
NG_007481.1:g.32677C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.681C>G MANE Select	ENSP00000356016.4:p.Gly227=
ENST00000367051.6:c.487+12150C>G	ENSP00000356018.1:n.487+12150C>G
ENST00000367052.6:c.681C>G	ENSP00000356019.1:p.Gly227=
ENST00000367053.6:c.681C>G	ENSP00000356020.1:p.Gly227=
ENST00000400960.7:c.681C>G	ENSP00000383744.2:p.Gly227=
ENST00000367049.8:c.681C>G	ENSP00000356016.4:p.Gly227=
ENST00000367050.8:n.802C>G
ENST00000367051.5:c.487+12150C>G	ENSP00000356018.1:n.487+12150C>G
ENST00000367052.5:c.681C>G	ENSP00000356019.1:p.Gly227=
ENST00000367053.5:c.681C>G	ENSP00000356020.1:p.Gly227=
ENST00000400960.6:c.681C>G	ENSP00000383744.2:p.Gly227=
ENST00000434033.5:n.608C>G
ENST00000436595.1:n.414+12150C>G
ENST00000450439.5:n.608C>G
ENST00000529814.1:c.608C>G
ENST00000534202.5:c.681C>G	ENSP00000436139.2:p.Gly227=
NM_000573.3:c.681C>G	NP_000564.2:p.Gly227=
NM_000651.4:c.681C>G	NP_000642.3:p.Gly227=
XM_006711166.2:c.696C>G	XP_006711229.1:p.Gly232=
XM_011509205.1:c.696C>G	XP_011507507.1:p.Gly232=
NM_000651.5:c.681C>G	NP_000642.3:p.Gly227=
XM_024453287.1:c.696C>G	XP_024309055.1:p.Gly232=
NM_000573.4:c.681C>G	NP_000564.2:p.Gly227=
NM_000651.6:c.681C>G MANE Select	NP_000642.3:p.Gly227=