Canonical Allele Identifier: CA344545092
Gene: CR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207611758T>A , CM000663.2:g.207611758T>A GRCh38
NC_000001.10:g.207785103T>A , CM000663.1:g.207785103T>A GRCh37
NC_000001.9:g.205851726T>A NCBI36
NG_007481.1:g.120631T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367049.9:c.6377T>A MANE Select ENSP00000356016.4:p.Phe2126Tyr
ENST00000367051.6:c.5027T>A ENSP00000356018.1:p.Phe1676Tyr
ENST00000367052.6:c.5027T>A ENSP00000356019.1:p.Phe1676Tyr
ENST00000367053.6:c.5027T>A ENSP00000356020.1:p.Phe1676Tyr
ENST00000400960.7:c.5027T>A ENSP00000383744.2:p.Phe1676Tyr
ENST00000367049.8:c.6377T>A ENSP00000356016.4:p.Phe2126Tyr
ENST00000367051.5:c.5027T>A ENSP00000356018.1:p.Phe1676Tyr
ENST00000367052.5:c.5027T>A ENSP00000356019.1:p.Phe1676Tyr
ENST00000367053.5:c.5027T>A ENSP00000356020.1:p.Phe1676Tyr
ENST00000400960.6:c.5027T>A ENSP00000383744.2:p.Phe1676Tyr
ENST00000529814.1:c.1180-4817T>A
NM_000573.3:c.5027T>A NP_000564.2:p.Phe1676Tyr
NM_000651.4:c.6377T>A NP_000642.3:p.Phe2126Tyr
XM_006711166.2:c.6392T>A XP_006711229.1:p.Phe2131Tyr
XM_011509205.1:c.6392T>A XP_011507507.1:p.Phe2131Tyr
NM_000651.5:c.6377T>A NP_000642.3:p.Phe2126Tyr
XM_024453287.1:c.5042T>A XP_024309055.1:p.Phe1681Tyr
NM_000573.4:c.5027T>A NP_000564.2:p.Phe1676Tyr
NM_000651.6:c.6377T>A MANE Select NP_000642.3:p.Phe2126Tyr