Canonical Allele Identifier: CA344520774

Gene: CR1

Linked Data

• dbSNP Id: rs1431088864
• gnomAD v3: 1-207523820-A-C
• gnomAD v4: 1-207523820-A-C
• MyVariant Identifiers: chr1:g.207697165A>C (hg19) ; chr1:g.207523820A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523820A>C , CM000663.2:g.207523820A>C	GRCh38
NC_000001.10:g.207697165A>C , CM000663.1:g.207697165A>C	GRCh37
NC_000001.9:g.205763788A>C	NCBI36
NG_007481.1:g.32693A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.697A>C MANE Select	ENSP00000356016.4:p.Ile233Leu
ENST00000367051.6:c.487+12166A>C	ENSP00000356018.1:n.487+12166A>C
ENST00000367052.6:c.697A>C	ENSP00000356019.1:p.Ile233Leu
ENST00000367053.6:c.697A>C	ENSP00000356020.1:p.Ile233Leu
ENST00000400960.7:c.697A>C	ENSP00000383744.2:p.Ile233Leu
ENST00000367049.8:c.697A>C	ENSP00000356016.4:p.Ile233Leu
ENST00000367050.8:n.818A>C
ENST00000367051.5:c.487+12166A>C	ENSP00000356018.1:n.487+12166A>C
ENST00000367052.5:c.697A>C	ENSP00000356019.1:p.Ile233Leu
ENST00000367053.5:c.697A>C	ENSP00000356020.1:p.Ile233Leu
ENST00000400960.6:c.697A>C	ENSP00000383744.2:p.Ile233Leu
ENST00000434033.5:n.624A>C
ENST00000436595.1:n.414+12166A>C
ENST00000450439.5:n.624A>C
ENST00000529814.1:c.624A>C
ENST00000534202.5:c.697A>C	ENSP00000436139.2:p.Ile233Leu
NM_000573.3:c.697A>C	NP_000564.2:p.Ile233Leu
NM_000651.4:c.697A>C	NP_000642.3:p.Ile233Leu
XM_006711166.2:c.712A>C	XP_006711229.1:p.Ile238Leu
XM_011509205.1:c.712A>C	XP_011507507.1:p.Ile238Leu
NM_000651.5:c.697A>C	NP_000642.3:p.Ile233Leu
XM_024453287.1:c.712A>C	XP_024309055.1:p.Ile238Leu
NM_000573.4:c.697A>C	NP_000564.2:p.Ile233Leu
NM_000651.6:c.697A>C MANE Select	NP_000642.3:p.Ile233Leu