Canonical Allele Identifier: CA383723688

Gene: C1R

Linked Data

• MyVariant Identifiers: chr12:g.7241455T>A (hg19) ; chr12:g.7088859T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7088859T>A , CM000674.2:g.7088859T>A	GRCh38
NC_000012.11:g.7241455T>A , CM000674.1:g.7241455T>A	GRCh37
NC_000012.10:g.7132596T>A	NCBI36
NG_062465.1:g.8749A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.896A>T MANE Select	ENSP00000497341.1:p.Lys299Met
ENST00000648162.1:n.868A>T
ENST00000535233.6:c.794A>T	ENSP00000438636.3:p.Lys265Met
ENST00000536053.6:c.938A>T	ENSP00000444271.3:p.Lys313Met
ENST00000540394.5:n.1961A>T
ENST00000542285.5:c.896A>T	ENSP00000438615.2:p.Lys299Met
NM_001733.4:c.896A>T	NP_001724.3:p.Lys299Met
NM_001354346.1:c.938A>T	NP_001341275.1:p.Lys313Met
NM_001733.6:c.896A>T	NP_001724.4:p.Lys299Met
NM_001733.7:c.896A>T MANE Select	NP_001724.4:p.Lys299Met
NM_001354346.2:c.938A>T	NP_001341275.1:p.Lys313Met