Canonical Allele Identifier: CA2014392195

Gene: C1R

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086443C= , CM000674.2:g.7086443C=	GRCh38
NG_062465.1:g.11165G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1053G= MANE Select	ENSP00000497341.1:p.Leu351=
ENST00000648162.1:n.1025G=
ENST00000649804.1:c.147G=	ENSP00000497938.1:p.Leu49=
ENST00000535233.6:c.951G=	ENSP00000438636.3:p.Leu317=
ENST00000536053.6:c.1095G=	ENSP00000444271.3:p.Leu365=
ENST00000540394.5:n.2118G=
ENST00000542285.5:c.1053G=	ENSP00000438615.2:p.Leu351=
ENST00000602298.2:n.1402G=
NM_001733.4:c.1053G=	NP_001724.3:p.Leu351=
NM_001354346.1:c.1095G=	NP_001341275.1:p.Leu365=
NM_001733.6:c.1053G=	NP_001724.4:p.Leu351=
NM_001733.7:c.1053G= MANE Select	NP_001724.4:p.Leu351=
NM_001354346.2:c.1095G=	NP_001341275.1:p.Leu365=