Canonical Allele Identifier: CA343772279

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 1460607
• ClinVar RCV Id: RCV001951678
• dbSNP Id: rs2102773041
• MyVariant Identifiers: chr1:g.173873091A>T (hg19) ; chr1:g.173903953A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903953A>T , CM000663.2:g.173903953A>T	GRCh38
NC_000001.10:g.173873091A>T , CM000663.1:g.173873091A>T	GRCh37
NC_000001.9:g.172139714A>T	NCBI36
NG_012462.1:g.18426T>A , LRG_577:g.18426T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1331T>A MANE Select	ENSP00000356671.3:p.Ile444Lys
ENST00000367698.3:c.1331T>A	ENSP00000356671.3:p.Ile444Lys
ENST00000617423.4:c.716T>A	ENSP00000478688.1:p.Ile239Lys
NM_000488.3:c.1331T>A , LRG_577t1:c.1331T>A	NP_000479.1:p.Ile444Lys
XM_005245198.2:c.1187T>A	XP_005245255.1:p.Ile396Lys
NM_001365052.1:c.1187T>A	NP_001351981.1:p.Ile396Lys
NM_000488.4:c.1331T>A MANE Select	NP_000479.1:p.Ile444Lys
NM_001365052.2:c.1187T>A	NP_001351981.1:p.Ile396Lys
NM_001386302.1:c.1454T>A	NP_001373231.1:p.Ile485Lys
NM_001386303.1:c.1412T>A	NP_001373232.1:p.Ile471Lys
NM_001386304.1:c.1310T>A	NP_001373233.1:p.Ile437Lys
NM_001386305.1:c.1274T>A	NP_001373234.1:p.Ile425Lys
NM_001386306.1:c.1115T>A	NP_001373235.1:p.Ile372Lys