Canonical Allele Identifier: CA343772522

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173873134T>G (hg19) ; chr1:g.173903996T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903996T>G , CM000663.2:g.173903996T>G	GRCh38
NC_000001.10:g.173873134T>G , CM000663.1:g.173873134T>G	GRCh37
NC_000001.9:g.172139757T>G	NCBI36
NG_012462.1:g.18383A>C , LRG_577:g.18383A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1288A>C MANE Select	ENSP00000356671.3:p.Asn430His
ENST00000367698.3:c.1288A>C	ENSP00000356671.3:p.Asn430His
ENST00000617423.4:c.673A>C	ENSP00000478688.1:p.Asn225His
NM_000488.3:c.1288A>C , LRG_577t1:c.1288A>C	NP_000479.1:p.Asn430His
XM_005245198.2:c.1144A>C	XP_005245255.1:p.Asn382His
NM_001365052.1:c.1144A>C	NP_001351981.1:p.Asn382His
NM_000488.4:c.1288A>C MANE Select	NP_000479.1:p.Asn430His
NM_001365052.2:c.1144A>C	NP_001351981.1:p.Asn382His
NM_001386302.1:c.1411A>C	NP_001373231.1:p.Asn471His
NM_001386303.1:c.1369A>C	NP_001373232.1:p.Asn457His
NM_001386304.1:c.1267A>C	NP_001373233.1:p.Asn423His
NM_001386305.1:c.1231A>C	NP_001373234.1:p.Asn411His
NM_001386306.1:c.1072A>C	NP_001373235.1:p.Asn358His