Canonical Allele Identifier: CA343772645

Gene: SERPINC1

Linked Data

• COSMIC: COSM677073
• MyVariant Identifiers: chr1:g.173873178G>T (hg19) ; chr1:g.173904040G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173904040G>T , CM000663.2:g.173904040G>T	GRCh38
NC_000001.10:g.173873178G>T , CM000663.1:g.173873178G>T	GRCh37
NC_000001.9:g.172139801G>T	NCBI36
NG_012462.1:g.18339C>A , LRG_577:g.18339C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1244C>A MANE Select	ENSP00000356671.3:p.Ala415Asp
ENST00000367698.3:c.1244C>A	ENSP00000356671.3:p.Ala415Asp
ENST00000617423.4:c.629C>A	ENSP00000478688.1:p.Ala210Asp
NM_000488.3:c.1244C>A , LRG_577t1:c.1244C>A	NP_000479.1:p.Ala415Asp
XM_005245198.2:c.1100C>A	XP_005245255.1:p.Ala367Asp
NM_001365052.1:c.1100C>A	NP_001351981.1:p.Ala367Asp
NM_000488.4:c.1244C>A MANE Select	NP_000479.1:p.Ala415Asp
NM_001365052.2:c.1100C>A	NP_001351981.1:p.Ala367Asp
NM_001386302.1:c.1367C>A	NP_001373231.1:p.Ala456Asp
NM_001386303.1:c.1325C>A	NP_001373232.1:p.Ala442Asp
NM_001386304.1:c.1223C>A	NP_001373233.1:p.Ala408Asp
NM_001386305.1:c.1187C>A	NP_001373234.1:p.Ala396Asp
NM_001386306.1:c.1028C>A	NP_001373235.1:p.Ala343Asp