Canonical Allele Identifier: CA343773479

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1657671691
• COSMIC: COSM3802911
• MyVariant Identifiers: chr1:g.173878701G>C (hg19) ; chr1:g.173909563G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909563G>C , CM000663.2:g.173909563G>C	GRCh38
NC_000001.10:g.173878701G>C , CM000663.1:g.173878701G>C	GRCh37
NC_000001.9:g.172145324G>C	NCBI36
NG_012462.1:g.12816C>G , LRG_577:g.12816C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1142C>G MANE Select	ENSP00000356671.3:p.Ser381Cys
ENST00000367698.3:c.1142C>G	ENSP00000356671.3:p.Ser381Cys
ENST00000617423.4:c.560-2070C>G	ENSP00000478688.1:n.560-2070C>G
NM_000488.3:c.1142C>G , LRG_577t1:c.1142C>G	NP_000479.1:p.Ser381Cys
XM_005245198.2:c.998C>G	XP_005245255.1:p.Ser333Cys
NM_001365052.1:c.998C>G	NP_001351981.1:p.Ser333Cys
NM_000488.4:c.1142C>G MANE Select	NP_000479.1:p.Ser381Cys
NM_001365052.2:c.998C>G	NP_001351981.1:p.Ser333Cys
NM_001386302.1:c.1265C>G	NP_001373231.1:p.Ser422Cys
NM_001386303.1:c.1223C>G	NP_001373232.1:p.Ser408Cys
NM_001386304.1:c.1121C>G	NP_001373233.1:p.Ser374Cys
NM_001386305.1:c.1085C>G	NP_001373234.1:p.Ser362Cys
NM_001386306.1:c.926C>G	NP_001373235.1:p.Ser309Cys