Canonical Allele Identifier: CA2014393185

Gene: C1R

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7088856A= , CM000674.2:g.7088856A=	GRCh38
NC_000012.11:g.7241452A= , CM000674.1:g.7241452A=	GRCh37
NC_000012.10:g.7132593A=	NCBI36
NG_062465.1:g.8752T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001733.7:c.899T= MANE Select	NP_001724.4:p.Leu300=
ENST00000647956.2:c.899T= MANE Select	ENSP00000497341.1:p.Leu300=
NM_001354346.1:c.941T=	NP_001341275.1:p.Leu314=
NM_001354346.2:c.941T=	NP_001341275.1:p.Leu314=
NM_001733.4:c.899T=	NP_001724.3:p.Leu300=
NM_001733.6:c.899T=	NP_001724.4:p.Leu300=
ENST00000535233.6:c.797T=	ENSP00000438636.3:p.Leu266=
ENST00000536053.6:c.941T=	ENSP00000444271.3:p.Leu314=
ENST00000540394.5:n.1964T=
ENST00000542285.5:c.899T=	ENSP00000438615.2:p.Leu300=
ENST00000648162.1:n.871T=