Canonical Allele Identifier: CA478522470

Gene: C1S

Linked Data

• MyVariant Identifiers: chr12:g.7177388C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7070084C>A , CM000674.2:g.7070084C>A	GRCh38
NC_000012.11:g.7177388C>A , CM000674.1:g.7177388C>A	GRCh37
NC_000012.10:g.7047649C>A	NCBI36
NG_011694.1:g.14409C>A , LRG_25:g.14409C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000473545.2:n.4236C>A
ENST00000488701.2:n.2017C>A
ENST00000495053.2:n.3576C>A
ENST00000698563.1:n.4879C>A
ENST00000698564.1:n.3326C>A
ENST00000698565.1:n.3435C>A
ENST00000360817.10:c.1500C>A MANE Select	ENSP00000354057.5:p.Ser500=
ENST00000328916.7:c.1500C>A	ENSP00000328173.3:p.Ser500=
ENST00000360817.9:c.1500C>A	ENSP00000354057.5:p.Ser500=
ENST00000402681.7:c.999C>A	ENSP00000384171.3:p.Ser333=
ENST00000406697.5:c.1500C>A	ENSP00000385035.1:p.Ser500=
ENST00000443875.5:c.1604C>A
ENST00000461983.5:n.921C>A
ENST00000495061.5:n.676C>A
ENST00000617865.4:c.1482C>A	ENSP00000484657.1:p.Ser494=
NM_001734.3:c.1500C>A , LRG_25t1:c.1500C>A	NP_001725.1:p.Ser500=
NM_201442.2:c.1500C>A	NP_958850.1:p.Ser500=
XM_005253760.1:c.1500C>A	XP_005253817.1:p.Ser500=
NM_001346850.1:c.999C>A	NP_001333779.1:p.Ser333=
NM_001734.4:c.1500C>A	NP_001725.1:p.Ser500=
NM_201442.3:c.1500C>A	NP_958850.1:p.Ser500=
XM_005253760.2:c.1500C>A	XP_005253817.1:p.Ser500=
NM_001734.5:c.1500C>A MANE Select	NP_001725.1:p.Ser500=
NM_001346850.2:c.999C>A	NP_001333779.1:p.Ser333=
NM_201442.4:c.1500C>A	NP_958850.1:p.Ser500=