Canonical Allele Identifier: CA383704764

Gene: C1S

Linked Data

• ClinVar Variation Id: 1522224
• ClinVar RCV Id: RCV002034313 ; RCV002549016
• dbSNP Id: rs1591582245
• MyVariant Identifiers: chr12:g.7177401C>A (hg19) ; chr12:g.7070097C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7070097C>A , CM000674.2:g.7070097C>A	GRCh38
NC_000012.11:g.7177401C>A , CM000674.1:g.7177401C>A	GRCh37
NC_000012.10:g.7047662C>A	NCBI36
NG_011694.1:g.14422C>A , LRG_25:g.14422C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000473545.2:n.4249C>A
ENST00000488701.2:n.2030C>A
ENST00000495053.2:n.3589C>A
ENST00000698563.1:n.4892C>A
ENST00000698564.1:n.3339C>A
ENST00000698565.1:n.3448C>A
ENST00000360817.10:c.1513C>A MANE Select	ENSP00000354057.5:p.Pro505Thr
ENST00000328916.7:c.1513C>A	ENSP00000328173.3:p.Pro505Thr
ENST00000360817.9:c.1513C>A	ENSP00000354057.5:p.Pro505Thr
ENST00000402681.7:c.1012C>A	ENSP00000384171.3:p.Pro338Thr
ENST00000406697.5:c.1513C>A	ENSP00000385035.1:p.Pro505Thr
ENST00000443875.5:c.1617C>A
ENST00000461983.5:n.934C>A
ENST00000495061.5:n.689C>A
ENST00000617865.4:c.1495C>A	ENSP00000484657.1:p.Pro499Thr
NM_001734.3:c.1513C>A , LRG_25t1:c.1513C>A	NP_001725.1:p.Pro505Thr
NM_201442.2:c.1513C>A	NP_958850.1:p.Pro505Thr
XM_005253760.1:c.1513C>A	XP_005253817.1:p.Pro505Thr
NM_001346850.1:c.1012C>A	NP_001333779.1:p.Pro338Thr
NM_001734.4:c.1513C>A	NP_001725.1:p.Pro505Thr
NM_201442.3:c.1513C>A	NP_958850.1:p.Pro505Thr
XM_005253760.2:c.1513C>A	XP_005253817.1:p.Pro505Thr
NM_001734.5:c.1513C>A MANE Select	NP_001725.1:p.Pro505Thr
NM_001346850.2:c.1012C>A	NP_001333779.1:p.Pro338Thr
NM_201442.4:c.1513C>A	NP_958850.1:p.Pro505Thr