Canonical Allele Identifier: CA478522490

Gene: C1S

Linked Data

• MyVariant Identifiers: chr12:g.7177400T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7070096T>C , CM000674.2:g.7070096T>C	GRCh38
NC_000012.11:g.7177400T>C , CM000674.1:g.7177400T>C	GRCh37
NC_000012.10:g.7047661T>C	NCBI36
NG_011694.1:g.14421T>C , LRG_25:g.14421T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000473545.2:n.4248T>C
ENST00000488701.2:n.2029T>C
ENST00000495053.2:n.3588T>C
ENST00000698563.1:n.4891T>C
ENST00000698564.1:n.3338T>C
ENST00000698565.1:n.3447T>C
ENST00000360817.10:c.1512T>C MANE Select	ENSP00000354057.5:p.Thr504=
ENST00000328916.7:c.1512T>C	ENSP00000328173.3:p.Thr504=
ENST00000360817.9:c.1512T>C	ENSP00000354057.5:p.Thr504=
ENST00000402681.7:c.1011T>C	ENSP00000384171.3:p.Thr337=
ENST00000406697.5:c.1512T>C	ENSP00000385035.1:p.Thr504=
ENST00000443875.5:c.1616T>C
ENST00000461983.5:n.933T>C
ENST00000495061.5:n.688T>C
ENST00000617865.4:c.1494T>C	ENSP00000484657.1:p.Thr498=
NM_001734.3:c.1512T>C , LRG_25t1:c.1512T>C	NP_001725.1:p.Thr504=
NM_201442.2:c.1512T>C	NP_958850.1:p.Thr504=
XM_005253760.1:c.1512T>C	XP_005253817.1:p.Thr504=
NM_001346850.1:c.1011T>C	NP_001333779.1:p.Thr337=
NM_001734.4:c.1512T>C	NP_001725.1:p.Thr504=
NM_201442.3:c.1512T>C	NP_958850.1:p.Thr504=
XM_005253760.2:c.1512T>C	XP_005253817.1:p.Thr504=
NM_001734.5:c.1512T>C MANE Select	NP_001725.1:p.Thr504=
NM_001346850.2:c.1011T>C	NP_001333779.1:p.Thr337=
NM_201442.4:c.1512T>C	NP_958850.1:p.Thr504=