Canonical Allele Identifier: CA343777700

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 2727335
• ClinVar RCV Id: RCV003526964
• COSMIC: COSM899817
• MyVariant Identifiers: chr1:g.173883827G>A (hg19) ; chr1:g.173914689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173914689G>A , CM000663.2:g.173914689G>A	GRCh38
NC_000001.10:g.173883827G>A , CM000663.1:g.173883827G>A	GRCh37
NC_000001.9:g.172150450G>A	NCBI36
NG_012462.1:g.7690C>T , LRG_577:g.7690C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.272C>T MANE Select	ENSP00000356671.3:p.Ala91Val
ENST00000367698.3:c.272C>T	ENSP00000356671.3:p.Ala91Val
ENST00000494024.1:n.498C>T
ENST00000617423.4:c.272C>T	ENSP00000478688.1:p.Ala91Val
NM_000488.3:c.272C>T , LRG_577t1:c.272C>T	NP_000479.1:p.Ala91Val
XM_005245198.2:c.128C>T	XP_005245255.1:p.Ala43Val
NM_001365052.1:c.128C>T	NP_001351981.1:p.Ala43Val
NM_000488.4:c.272C>T MANE Select	NP_000479.1:p.Ala91Val
NM_001365052.2:c.128C>T	NP_001351981.1:p.Ala43Val
NM_001386302.1:c.272C>T	NP_001373231.1:p.Ala91Val
NM_001386303.1:c.353C>T	NP_001373232.1:p.Ala118Val
NM_001386304.1:c.272C>T	NP_001373233.1:p.Ala91Val
NM_001386305.1:c.272C>T	NP_001373234.1:p.Ala91Val
NM_001386306.1:c.272C>T	NP_001373235.1:p.Ala91Val