Canonical Allele Identifier: CA343774040

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878873G>C (hg19) ; chr1:g.173909735G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909735G>C , CM000663.2:g.173909735G>C	GRCh38
NC_000001.10:g.173878873G>C , CM000663.1:g.173878873G>C	GRCh37
NC_000001.9:g.172145496G>C	NCBI36
NG_012462.1:g.12644C>G , LRG_577:g.12644C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.970C>G MANE Select	ENSP00000356671.3:p.Leu324Val
ENST00000367698.3:c.970C>G	ENSP00000356671.3:p.Leu324Val
ENST00000487183.1:n.621C>G
ENST00000617423.4:c.559+2129C>G	ENSP00000478688.1:n.559+2129C>G
NM_000488.3:c.970C>G , LRG_577t1:c.970C>G	NP_000479.1:p.Leu324Val
XM_005245198.2:c.826C>G	XP_005245255.1:p.Leu276Val
NM_001365052.1:c.826C>G	NP_001351981.1:p.Leu276Val
NM_000488.4:c.970C>G MANE Select	NP_000479.1:p.Leu324Val
NM_001365052.2:c.826C>G	NP_001351981.1:p.Leu276Val
NM_001386302.1:c.1093C>G	NP_001373231.1:p.Leu365Val
NM_001386303.1:c.1051C>G	NP_001373232.1:p.Leu351Val
NM_001386304.1:c.949C>G	NP_001373233.1:p.Leu317Val
NM_001386305.1:c.913C>G	NP_001373234.1:p.Leu305Val
NM_001386306.1:c.754C>G	NP_001373235.1:p.Leu252Val