Canonical Allele Identifier: CA478522941

Gene: C1R C1RL

Linked Data

• gnomAD v4: 12-7091515-C-T
• MyVariant Identifiers: chr12:g.7244111C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7091515C>T , CM000674.2:g.7091515C>T	GRCh38
NC_000012.11:g.7244111C>T , CM000674.1:g.7244111C>T	GRCh37
NC_000012.10:g.7135252C>T	NCBI36
NG_062465.1:g.6093G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.168G>A (C1R) MANE Select	ENSP00000497341.1:p.Val56=
ENST00000535233.6:c.168G>A (C1R)	ENSP00000438636.3:p.Val56=
ENST00000536053.6:c.210G>A (C1R)	ENSP00000444271.3:p.Val70=
ENST00000536092.1:n.273G>A (C1R)
ENST00000538050.5:c.-148G>A (C1R)	ENSP00000444009.1:n.-148G>A
ENST00000539803.5:c.635G>A (C1RL)
ENST00000540242.2:c.168G>A (C1R)	ENSP00000442946.1:p.Val56=
ENST00000540394.5:n.927G>A (C1R)
ENST00000540610.5:c.-85+872G>A (C1R)	ENSP00000439223.1:n.-85+872G>A
ENST00000541042.5:c.-148G>A (C1R)	ENSP00000441601.1:n.-148G>A
ENST00000542285.5:c.168G>A (C1R)	ENSP00000438615.2:p.Val56=
ENST00000543362.5:c.168G>A (C1R)	ENSP00000446356.1:p.Val56=
ENST00000543835.5:c.168G>A (C1R)	ENSP00000445285.1:p.Val56=
ENST00000545466.1:n.221G>A (C1R)
NM_001733.4:c.168G>A (C1R)	NP_001724.3:p.Val56=
NM_001354346.1:c.210G>A (C1R)	NP_001341275.1:p.Val70=
NM_001733.6:c.168G>A (C1R)	NP_001724.4:p.Val56=
NM_001733.7:c.168G>A (C1R) MANE Select	NP_001724.4:p.Val56=
NM_001354346.2:c.210G>A (C1R)	NP_001341275.1:p.Val70=