Canonical Allele Identifier: CA383704747

Gene: C1S

Linked Data

• MyVariant Identifiers: chr12:g.7177396T>G (hg19) ; chr12:g.7070092T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7070092T>G , CM000674.2:g.7070092T>G	GRCh38
NC_000012.11:g.7177396T>G , CM000674.1:g.7177396T>G	GRCh37
NC_000012.10:g.7047657T>G	NCBI36
NG_011694.1:g.14417T>G , LRG_25:g.14417T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000473545.2:n.4244T>G
ENST00000488701.2:n.2025T>G
ENST00000495053.2:n.3584T>G
ENST00000698563.1:n.4887T>G
ENST00000698564.1:n.3334T>G
ENST00000698565.1:n.3443T>G
ENST00000360817.10:c.1508T>G MANE Select	ENSP00000354057.5:p.Leu503Arg
ENST00000328916.7:c.1508T>G	ENSP00000328173.3:p.Leu503Arg
ENST00000360817.9:c.1508T>G	ENSP00000354057.5:p.Leu503Arg
ENST00000402681.7:c.1007T>G	ENSP00000384171.3:p.Leu336Arg
ENST00000406697.5:c.1508T>G	ENSP00000385035.1:p.Leu503Arg
ENST00000443875.5:c.1612T>G
ENST00000461983.5:n.929T>G
ENST00000495061.5:n.684T>G
ENST00000617865.4:c.1490T>G	ENSP00000484657.1:p.Leu497Arg
NM_001734.3:c.1508T>G , LRG_25t1:c.1508T>G	NP_001725.1:p.Leu503Arg
NM_201442.2:c.1508T>G	NP_958850.1:p.Leu503Arg
XM_005253760.1:c.1508T>G	XP_005253817.1:p.Leu503Arg
NM_001346850.1:c.1007T>G	NP_001333779.1:p.Leu336Arg
NM_001734.4:c.1508T>G	NP_001725.1:p.Leu503Arg
NM_201442.3:c.1508T>G	NP_958850.1:p.Leu503Arg
XM_005253760.2:c.1508T>G	XP_005253817.1:p.Leu503Arg
NM_001734.5:c.1508T>G MANE Select	NP_001725.1:p.Leu503Arg
NM_001346850.2:c.1007T>G	NP_001333779.1:p.Leu336Arg
NM_201442.4:c.1508T>G	NP_958850.1:p.Leu503Arg