Canonical Allele Identifier: CA343774492

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 937670
• ClinVar RCV Id: RCV001206737
• dbSNP Id: rs1404578967
• MyVariant Identifiers: chr1:g.173878983T>A (hg19) ; chr1:g.173909845T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909845T>A , CM000663.2:g.173909845T>A	GRCh38
NC_000001.10:g.173878983T>A , CM000663.1:g.173878983T>A	GRCh37
NC_000001.9:g.172145606T>A	NCBI36
NG_012462.1:g.12534A>T , LRG_577:g.12534A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.860A>T MANE Select	ENSP00000356671.3:p.Glu287Val
ENST00000367698.3:c.860A>T	ENSP00000356671.3:p.Glu287Val
ENST00000487183.1:n.511A>T
ENST00000617423.4:c.559+2019A>T	ENSP00000478688.1:n.559+2019A>T
NM_000488.3:c.860A>T , LRG_577t1:c.860A>T	NP_000479.1:p.Glu287Val
XM_005245198.2:c.716A>T	XP_005245255.1:p.Glu239Val
NM_001365052.1:c.716A>T	NP_001351981.1:p.Glu239Val
NM_000488.4:c.860A>T MANE Select	NP_000479.1:p.Glu287Val
NM_001365052.2:c.716A>T	NP_001351981.1:p.Glu239Val
NM_001386302.1:c.983A>T	NP_001373231.1:p.Glu328Val
NM_001386303.1:c.941A>T	NP_001373232.1:p.Glu314Val
NM_001386304.1:c.839A>T	NP_001373233.1:p.Glu280Val
NM_001386305.1:c.803A>T	NP_001373234.1:p.Glu268Val
NM_001386306.1:c.644A>T	NP_001373235.1:p.Glu215Val