Canonical Allele Identifier: CA343772246

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173873085T>G (hg19) ; chr1:g.173903947T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903947T>G , CM000663.2:g.173903947T>G	GRCh38
NC_000001.10:g.173873085T>G , CM000663.1:g.173873085T>G	GRCh37
NC_000001.9:g.172139708T>G	NCBI36
NG_012462.1:g.18432A>C , LRG_577:g.18432A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1337A>C MANE Select	ENSP00000356671.3:p.Glu446Ala
ENST00000367698.3:c.1337A>C	ENSP00000356671.3:p.Glu446Ala
ENST00000617423.4:c.722A>C	ENSP00000478688.1:p.Glu241Ala
NM_000488.3:c.1337A>C , LRG_577t1:c.1337A>C	NP_000479.1:p.Glu446Ala
XM_005245198.2:c.1193A>C	XP_005245255.1:p.Glu398Ala
NM_001365052.1:c.1193A>C	NP_001351981.1:p.Glu398Ala
NM_000488.4:c.1337A>C MANE Select	NP_000479.1:p.Glu446Ala
NM_001365052.2:c.1193A>C	NP_001351981.1:p.Glu398Ala
NM_001386302.1:c.1460A>C	NP_001373231.1:p.Glu487Ala
NM_001386303.1:c.1418A>C	NP_001373232.1:p.Glu473Ala
NM_001386304.1:c.1316A>C	NP_001373233.1:p.Glu439Ala
NM_001386305.1:c.1280A>C	NP_001373234.1:p.Glu427Ala
NM_001386306.1:c.1121A>C	NP_001373235.1:p.Glu374Ala