Canonical Allele Identifier: CA6423978

Gene: C1R

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7081019G>A , CM000674.2:g.7081019G>A	GRCh38
NC_000012.11:g.7188323G>A , CM000674.1:g.7188323G>A	GRCh37
NC_000012.10:g.7058578G>A	NCBI36
NG_062465.1:g.15820C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001733.7:c.1631C>T MANE Select	NP_001724.4:p.Pro544Leu
ENST00000647956.2:c.1631C>T MANE Select	ENSP00000497341.1:p.Pro544Leu
NM_001354346.1:c.1673C>T	NP_001341275.1:p.Pro558Leu
NM_001354346.2:c.1673C>T	NP_001341275.1:p.Pro558Leu
NM_001733.6:c.1631C>T	NP_001724.4:p.Pro544Leu
ENST00000535233.6:c.1529C>T	ENSP00000438636.3:p.Pro510Leu
ENST00000536053.6:c.1673C>T	ENSP00000444271.3:p.Pro558Leu
ENST00000540394.5:n.2696C>T
ENST00000542285.5:c.1631C>T	ENSP00000438615.2:p.Pro544Leu
ENST00000602298.2:n.1980C>T
ENST00000648162.1:n.1603C>T
ENST00000649804.1:c.569C>T	ENSP00000497938.1:p.Pro190Leu