Canonical Allele Identifier: CA1370446

Gene: CR1

Linked Data

• dbSNP Id: rs755392088
• ExAC: 1:207785178 C / CT
• gnomAD v2: 1-207785178-C-CT
• gnomAD v4: 1-207611833-C-CT
• MyVariant Identifiers: chr1:g.207785178_207785179insT (hg19) ; chr1:g.207611833_207611834insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611834dup , CM000663.2:g.207611834dup	GRCh38
NC_000001.10:g.207785179dup , CM000663.1:g.207785179dup	GRCh37
NC_000001.9:g.205851802dup	NCBI36
NG_007481.1:g.120707dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6453dup MANE Select	ENSP00000356016.4:p.Glu2152Ter
ENST00000367051.6:c.5103dup	ENSP00000356018.1:p.Glu1702Ter
ENST00000367052.6:c.5103dup	ENSP00000356019.1:p.Glu1702Ter
ENST00000367053.6:c.5103dup	ENSP00000356020.1:p.Glu1702Ter
ENST00000400960.7:c.5103dup	ENSP00000383744.2:p.Glu1702Ter
ENST00000367049.8:c.6453dup	ENSP00000356016.4:p.Glu2152Ter
ENST00000367051.5:c.5103dup	ENSP00000356018.1:p.Glu1702Ter
ENST00000367052.5:c.5103dup	ENSP00000356019.1:p.Glu1702Ter
ENST00000367053.5:c.5103dup	ENSP00000356020.1:p.Glu1702Ter
ENST00000400960.6:c.5103dup	ENSP00000383744.2:p.Glu1702Ter
ENST00000529814.1:c.1180-4741dup
NM_000573.3:c.5103dup	NP_000564.2:p.Glu1702Ter
NM_000651.4:c.6453dup	NP_000642.3:p.Glu2152Ter
XM_006711166.2:c.6468dup	XP_006711229.1:p.Glu2157Ter
XM_011509205.1:c.6468dup	XP_011507507.1:p.Glu2157Ter
NM_000651.5:c.6453dup	NP_000642.3:p.Glu2152Ter
XM_024453287.1:c.5118dup	XP_024309055.1:p.Glu1707Ter
NM_000573.4:c.5103dup	NP_000564.2:p.Glu1702Ter
NM_000651.6:c.6453dup MANE Select	NP_000642.3:p.Glu2152Ter