Canonical Allele Identifier: CA343772240

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173873084T>G (hg19) ; chr1:g.173903946T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903946T>G , CM000663.2:g.173903946T>G	GRCh38
NC_000001.10:g.173873084T>G , CM000663.1:g.173873084T>G	GRCh37
NC_000001.9:g.172139707T>G	NCBI36
NG_012462.1:g.18433A>C , LRG_577:g.18433A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1338A>C MANE Select	ENSP00000356671.3:p.Glu446Asp
ENST00000367698.3:c.1338A>C	ENSP00000356671.3:p.Glu446Asp
ENST00000617423.4:c.723A>C	ENSP00000478688.1:p.Glu241Asp
NM_000488.3:c.1338A>C , LRG_577t1:c.1338A>C	NP_000479.1:p.Glu446Asp
XM_005245198.2:c.1194A>C	XP_005245255.1:p.Glu398Asp
NM_001365052.1:c.1194A>C	NP_001351981.1:p.Glu398Asp
NM_000488.4:c.1338A>C MANE Select	NP_000479.1:p.Glu446Asp
NM_001365052.2:c.1194A>C	NP_001351981.1:p.Glu398Asp
NM_001386302.1:c.1461A>C	NP_001373231.1:p.Glu487Asp
NM_001386303.1:c.1419A>C	NP_001373232.1:p.Glu473Asp
NM_001386304.1:c.1317A>C	NP_001373233.1:p.Glu439Asp
NM_001386305.1:c.1281A>C	NP_001373234.1:p.Glu427Asp
NM_001386306.1:c.1122A>C	NP_001373235.1:p.Glu374Asp