Canonical Allele Identifier: CA344519923
Gene: CR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2600161
ClinVar RCV Id: RCV004345608
dbSNP Id: rs1660068232

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207523688T>G , CM000663.2:g.207523688T>G GRCh38
NC_000001.10:g.207697033T>G , CM000663.1:g.207697033T>G GRCh37
NC_000001.9:g.205763656T>G NCBI36
NG_007481.1:g.32561T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367049.9:c.565T>G MANE Select ENSP00000356016.4:p.Ser189Ala
ENST00000367051.6:c.487+12034T>G ENSP00000356018.1:n.487+12034T>G
ENST00000367052.6:c.565T>G ENSP00000356019.1:p.Ser189Ala
ENST00000367053.6:c.565T>G ENSP00000356020.1:p.Ser189Ala
ENST00000400960.7:c.565T>G ENSP00000383744.2:p.Ser189Ala
ENST00000367049.8:c.565T>G ENSP00000356016.4:p.Ser189Ala
ENST00000367050.8:n.686T>G
ENST00000367051.5:c.487+12034T>G ENSP00000356018.1:n.487+12034T>G
ENST00000367052.5:c.565T>G ENSP00000356019.1:p.Ser189Ala
ENST00000367053.5:c.565T>G ENSP00000356020.1:p.Ser189Ala
ENST00000400960.6:c.565T>G ENSP00000383744.2:p.Ser189Ala
ENST00000434033.5:n.492T>G
ENST00000436595.1:n.414+12034T>G
ENST00000450439.5:n.492T>G
ENST00000529814.1:c.492T>G
ENST00000534202.5:c.565T>G ENSP00000436139.2:p.Ser189Ala
NM_000573.3:c.565T>G NP_000564.2:p.Ser189Ala
NM_000651.4:c.565T>G NP_000642.3:p.Ser189Ala
XM_006711166.2:c.580T>G XP_006711229.1:p.Ser194Ala
XM_011509205.1:c.580T>G XP_011507507.1:p.Ser194Ala
NM_000651.5:c.565T>G NP_000642.3:p.Ser189Ala
XM_024453287.1:c.580T>G XP_024309055.1:p.Ser194Ala
NM_000573.4:c.565T>G NP_000564.2:p.Ser189Ala
NM_000651.6:c.565T>G MANE Select NP_000642.3:p.Ser189Ala