Canonical Allele Identifier: CA1251303

Gene: SERPINC1

Linked Data

• dbSNP Id: rs766626880
• ExAC: 1:173878873 G / T
• gnomAD v2: 1-173878873-G-T
• gnomAD v4: 1-173909735-G-T
• MyVariant Identifiers: chr1:g.173878873G>T (hg19) ; chr1:g.173909735G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.970C>A MANE Select	ENSP00000356671.3:p.Leu324Met
ENST00000367698.3:c.970C>A	ENSP00000356671.3:p.Leu324Met
ENST00000487183.1:n.621C>A
ENST00000617423.4:c.559+2129C>A	ENSP00000478688.1:n.559+2129C>A
NM_000488.3:c.970C>A , LRG_577t1:c.970C>A	NP_000479.1:p.Leu324Met
XM_005245198.2:c.826C>A	XP_005245255.1:p.Leu276Met
NM_001365052.1:c.826C>A	NP_001351981.1:p.Leu276Met
NM_000488.4:c.970C>A MANE Select	NP_000479.1:p.Leu324Met
NM_001365052.2:c.826C>A	NP_001351981.1:p.Leu276Met
NM_001386302.1:c.1093C>A	NP_001373231.1:p.Leu365Met
NM_001386303.1:c.1051C>A	NP_001373232.1:p.Leu351Met
NM_001386304.1:c.949C>A	NP_001373233.1:p.Leu317Met
NM_001386305.1:c.913C>A	NP_001373234.1:p.Leu305Met
NM_001386306.1:c.754C>A	NP_001373235.1:p.Leu252Met