Canonical Allele Identifier: CA383729616

Gene: C1R C1RL

Linked Data

• dbSNP Id: rs766470763
• gnomAD v2: 12-7244104-C-G
• gnomAD v4: 12-7091508-C-G
• MyVariant Identifiers: chr12:g.7244104C>G (hg19) ; chr12:g.7091508C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7091508C>G , CM000674.2:g.7091508C>G	GRCh38
NC_000012.11:g.7244104C>G , CM000674.1:g.7244104C>G	GRCh37
NC_000012.10:g.7135245C>G	NCBI36
NG_062465.1:g.6100G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.175G>C (C1R) MANE Select	ENSP00000497341.1:p.Val59Leu
ENST00000535233.6:c.175G>C (C1R)	ENSP00000438636.3:p.Val59Leu
ENST00000536053.6:c.217G>C (C1R)	ENSP00000444271.3:p.Val73Leu
ENST00000536092.1:n.280G>C (C1R)
ENST00000538050.5:c.-141G>C (C1R)	ENSP00000444009.1:n.-141G>C
ENST00000539803.5:c.642G>C (C1RL)
ENST00000540242.2:c.175G>C (C1R)	ENSP00000442946.1:p.Val59Leu
ENST00000540394.5:n.934G>C (C1R)
ENST00000540610.5:c.-85+879G>C (C1R)	ENSP00000439223.1:n.-85+879G>C
ENST00000541042.5:c.-141G>C (C1R)	ENSP00000441601.1:n.-141G>C
ENST00000542285.5:c.175G>C (C1R)	ENSP00000438615.2:p.Val59Leu
ENST00000543362.5:c.175G>C (C1R)	ENSP00000446356.1:p.Val59Leu
ENST00000543835.5:c.175G>C (C1R)	ENSP00000445285.1:p.Val59Leu
ENST00000545466.1:n.228G>C (C1R)
NM_001733.4:c.175G>C (C1R)	NP_001724.3:p.Val59Leu
NM_001354346.1:c.217G>C (C1R)	NP_001341275.1:p.Val73Leu
NM_001733.6:c.175G>C (C1R)	NP_001724.4:p.Val59Leu
NM_001733.7:c.175G>C (C1R) MANE Select	NP_001724.4:p.Val59Leu
NM_001354346.2:c.217G>C (C1R)	NP_001341275.1:p.Val73Leu