Canonical Allele Identifier: CA343774319

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878939G>T (hg19) ; chr1:g.173909801G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909801G>T , CM000663.2:g.173909801G>T	GRCh38
NC_000001.10:g.173878939G>T , CM000663.1:g.173878939G>T	GRCh37
NC_000001.9:g.172145562G>T	NCBI36
NG_012462.1:g.12578C>A , LRG_577:g.12578C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.904C>A MANE Select	ENSP00000356671.3:p.Leu302Ile
ENST00000367698.3:c.904C>A	ENSP00000356671.3:p.Leu302Ile
ENST00000487183.1:n.555C>A
ENST00000617423.4:c.559+2063C>A	ENSP00000478688.1:n.559+2063C>A
NM_000488.3:c.904C>A , LRG_577t1:c.904C>A	NP_000479.1:p.Leu302Ile
XM_005245198.2:c.760C>A	XP_005245255.1:p.Leu254Ile
NM_001365052.1:c.760C>A	NP_001351981.1:p.Leu254Ile
NM_000488.4:c.904C>A MANE Select	NP_000479.1:p.Leu302Ile
NM_001365052.2:c.760C>A	NP_001351981.1:p.Leu254Ile
NM_001386302.1:c.1027C>A	NP_001373231.1:p.Leu343Ile
NM_001386303.1:c.985C>A	NP_001373232.1:p.Leu329Ile
NM_001386304.1:c.883C>A	NP_001373233.1:p.Leu295Ile
NM_001386305.1:c.847C>A	NP_001373234.1:p.Leu283Ile
NM_001386306.1:c.688C>A	NP_001373235.1:p.Leu230Ile