Canonical Allele Identifier: CA210770

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 18021
• ClinVar RCV Id: RCV000019637
• dbSNP Id: rs121909558
• MyVariant Identifiers: chr1:g.173883983A>T (hg19) ; chr1:g.173914845A>T (hg38)
• PubMed: PMID:2615648 ; PMID:3169232 ; PMID:8664906

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173914845A>T , CM000663.2:g.173914845A>T	GRCh38
NC_000001.10:g.173883983A>T , CM000663.1:g.173883983A>T	GRCh37
NC_000001.9:g.172150606A>T	NCBI36
NG_012462.1:g.7534T>A , LRG_577:g.7534T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.116T>A MANE Select	ENSP00000356671.3:p.Ile39Asn
ENST00000367698.3:c.116T>A	ENSP00000356671.3:p.Ile39Asn
ENST00000494024.1:n.342T>A
ENST00000617423.4:c.116T>A	ENSP00000478688.1:p.Ile39Asn
NM_000488.3:c.116T>A , LRG_577t1:c.116T>A	NP_000479.1:p.Ile39Asn
XM_005245198.2:c.-29T>A	XP_005245255.1:n.-29T>A
NM_001365052.1:c.-29T>A	NP_001351981.1:n.-29T>A
NM_000488.4:c.116T>A MANE Select	NP_000479.1:p.Ile39Asn
NM_001365052.2:c.-29T>A	NP_001351981.1:n.-29T>A
NM_001386302.1:c.116T>A	NP_001373231.1:p.Ile39Asn
NM_001386303.1:c.197T>A	NP_001373232.1:p.Ile66Asn
NM_001386304.1:c.116T>A	NP_001373233.1:p.Ile39Asn
NM_001386305.1:c.116T>A	NP_001373234.1:p.Ile39Asn
NM_001386306.1:c.116T>A	NP_001373235.1:p.Ile39Asn