Canonical Allele Identifier: CA16040617

Gene: C1R

Linked Data

• ClinVar Variation Id: 267354
• ClinVar RCV Id: RCV000258067 ; RCV000755112
• dbSNP Id: rs1057515579
• MyVariant Identifiers: chr12:g.7241452A>G (hg19) ; chr12:g.7088856A>G (hg38)
• PubMed: PMID:22739343 ; PMID:27745832

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.899T>C MANE Select	ENSP00000497341.1:p.Leu300Pro
ENST00000648162.1:n.871T>C
ENST00000535233.6:c.797T>C	ENSP00000438636.3:p.Leu266Pro
ENST00000536053.6:c.941T>C	ENSP00000444271.3:p.Leu314Pro
ENST00000540394.5:n.1964T>C
ENST00000542285.5:c.899T>C	ENSP00000438615.2:p.Leu300Pro
NM_001733.4:c.899T>C	NP_001724.3:p.Leu300Pro
NM_001354346.1:c.941T>C	NP_001341275.1:p.Leu314Pro
NM_001733.6:c.899T>C	NP_001724.4:p.Leu300Pro
NM_001733.7:c.899T>C MANE Select	NP_001724.4:p.Leu300Pro
NM_001354346.2:c.941T>C	NP_001341275.1:p.Leu314Pro