Canonical Allele Identifier: CA383704758

Gene: C1S

Linked Data

• MyVariant Identifiers: chr12:g.7177399C>A (hg19) ; chr12:g.7070095C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7070095C>A , CM000674.2:g.7070095C>A	GRCh38
NC_000012.11:g.7177399C>A , CM000674.1:g.7177399C>A	GRCh37
NC_000012.10:g.7047660C>A	NCBI36
NG_011694.1:g.14420C>A , LRG_25:g.14420C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000473545.2:n.4247C>A
ENST00000488701.2:n.2028C>A
ENST00000495053.2:n.3587C>A
ENST00000698563.1:n.4890C>A
ENST00000698564.1:n.3337C>A
ENST00000698565.1:n.3446C>A
ENST00000360817.10:c.1511C>A MANE Select	ENSP00000354057.5:p.Thr504Asn
ENST00000328916.7:c.1511C>A	ENSP00000328173.3:p.Thr504Asn
ENST00000360817.9:c.1511C>A	ENSP00000354057.5:p.Thr504Asn
ENST00000402681.7:c.1010C>A	ENSP00000384171.3:p.Thr337Asn
ENST00000406697.5:c.1511C>A	ENSP00000385035.1:p.Thr504Asn
ENST00000443875.5:c.1615C>A
ENST00000461983.5:n.932C>A
ENST00000495061.5:n.687C>A
ENST00000617865.4:c.1493C>A	ENSP00000484657.1:p.Thr498Asn
NM_001734.3:c.1511C>A , LRG_25t1:c.1511C>A	NP_001725.1:p.Thr504Asn
NM_201442.2:c.1511C>A	NP_958850.1:p.Thr504Asn
XM_005253760.1:c.1511C>A	XP_005253817.1:p.Thr504Asn
NM_001346850.1:c.1010C>A	NP_001333779.1:p.Thr337Asn
NM_001734.4:c.1511C>A	NP_001725.1:p.Thr504Asn
NM_201442.3:c.1511C>A	NP_958850.1:p.Thr504Asn
XM_005253760.2:c.1511C>A	XP_005253817.1:p.Thr504Asn
NM_001734.5:c.1511C>A MANE Select	NP_001725.1:p.Thr504Asn
NM_001346850.2:c.1010C>A	NP_001333779.1:p.Thr337Asn
NM_201442.4:c.1511C>A	NP_958850.1:p.Thr504Asn