Canonical Allele Identifier: CA2517159533

Gene: C1R

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086417T>A , CM000674.2:g.7086417T>A	GRCh38
NG_062465.1:g.11191A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1079A>T MANE Select	ENSP00000497341.1:p.Asp360Val
ENST00000648162.1:n.1051A>T
ENST00000649804.1:c.173A>T	ENSP00000497938.1:p.Asp58Val
ENST00000535233.6:c.977A>T	ENSP00000438636.3:p.Asp326Val
ENST00000536053.6:c.1121A>T	ENSP00000444271.3:p.Asp374Val
ENST00000540394.5:n.2144A>T
ENST00000542285.5:c.1079A>T	ENSP00000438615.2:p.Asp360Val
ENST00000602298.2:n.1428A>T
NM_001733.4:c.1079A>T	NP_001724.3:p.Asp360Val
NM_001354346.1:c.1121A>T	NP_001341275.1:p.Asp374Val
NM_001733.6:c.1079A>T	NP_001724.4:p.Asp360Val
NM_001733.7:c.1079A>T MANE Select	NP_001724.4:p.Asp360Val
NM_001354346.2:c.1121A>T	NP_001341275.1:p.Asp374Val