Canonical Allele Identifier: CA383704732

Gene: C1S

Linked Data

• MyVariant Identifiers: chr12:g.7177394G>C (hg19) ; chr12:g.7070090G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7070090G>C , CM000674.2:g.7070090G>C	GRCh38
NC_000012.11:g.7177394G>C , CM000674.1:g.7177394G>C	GRCh37
NC_000012.10:g.7047655G>C	NCBI36
NG_011694.1:g.14415G>C , LRG_25:g.14415G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000473545.2:n.4242G>C
ENST00000488701.2:n.2023G>C
ENST00000495053.2:n.3582G>C
ENST00000698563.1:n.4885G>C
ENST00000698564.1:n.3332G>C
ENST00000698565.1:n.3441G>C
ENST00000360817.10:c.1506G>C MANE Select	ENSP00000354057.5:p.Met502Ile
ENST00000328916.7:c.1506G>C	ENSP00000328173.3:p.Met502Ile
ENST00000360817.9:c.1506G>C	ENSP00000354057.5:p.Met502Ile
ENST00000402681.7:c.1005G>C	ENSP00000384171.3:p.Met335Ile
ENST00000406697.5:c.1506G>C	ENSP00000385035.1:p.Met502Ile
ENST00000443875.5:c.1610G>C
ENST00000461983.5:n.927G>C
ENST00000495061.5:n.682G>C
ENST00000617865.4:c.1488G>C	ENSP00000484657.1:p.Met496Ile
NM_001734.3:c.1506G>C , LRG_25t1:c.1506G>C	NP_001725.1:p.Met502Ile
NM_201442.2:c.1506G>C	NP_958850.1:p.Met502Ile
XM_005253760.1:c.1506G>C	XP_005253817.1:p.Met502Ile
NM_001346850.1:c.1005G>C	NP_001333779.1:p.Met335Ile
NM_001734.4:c.1506G>C	NP_001725.1:p.Met502Ile
NM_201442.3:c.1506G>C	NP_958850.1:p.Met502Ile
XM_005253760.2:c.1506G>C	XP_005253817.1:p.Met502Ile
NM_001734.5:c.1506G>C MANE Select	NP_001725.1:p.Met502Ile
NM_001346850.2:c.1005G>C	NP_001333779.1:p.Met335Ile
NM_201442.4:c.1506G>C	NP_958850.1:p.Met502Ile