Canonical Allele Identifier: CA116519

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 3946
• ClinVar RCV Id: RCV000004152 ; RCV000433404 ; RCV000768682 ; RCV002390090 ; RCV002482825
• dbSNP Id: rs121907948
• gnomAD v4: 11-57614475-G-A
• MyVariant Identifiers: chr11:g.57381948G>A (hg19) ; chr11:g.57614475G>A (hg38)
• PubMed: PMID:3178731

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614475G>A , CM000673.2:g.57614475G>A	GRCh38
NC_000011.9:g.57381948G>A , CM000673.1:g.57381948G>A	GRCh37
NC_000011.8:g.57138524G>A	NCBI36
NG_009625.1:g.21922G>A , LRG_105:g.21922G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000278407.9:c.1397G>A MANE Select	ENSP00000278407.4:p.Arg466His
ENST00000528996.2:c.*294G>A	ENSP00000431226.2:n.*294G>A
ENST00000531605.2:c.*1173G>A	ENSP00000503752.1:n.*1173G>A
ENST00000619430.2:c.1193G>A	ENSP00000478572.2:p.Arg398His
ENST00000676670.1:c.1397G>A	ENSP00000504807.1:p.Arg466His
ENST00000676741.1:n.2479G>A
ENST00000677624.1:c.*817G>A	ENSP00000503979.1:n.*817G>A
ENST00000677625.1:c.1343G>A	ENSP00000502857.1:p.Arg448His
ENST00000677856.1:n.1650G>A
ENST00000677915.1:c.*294G>A	ENSP00000503118.1:n.*294G>A
ENST00000678533.1:c.*951G>A	ENSP00000503873.1:n.*951G>A
ENST00000678592.1:c.*337G>A	ENSP00000504424.1:n.*337G>A
ENST00000278407.8:c.1397G>A	ENSP00000278407.4:p.Arg466His
ENST00000340687.10:c.1286G>A	ENSP00000341861.6:p.Arg429His
ENST00000378323.8:c.1412G>A	ENSP00000367574.4:p.Arg471His
ENST00000378324.6:c.1241G>A	ENSP00000367575.2:p.Arg414His
ENST00000403558.1:c.1526G>A	ENSP00000384420.1:p.Arg509His
ENST00000528996.1:c.598G>A	ENSP00000431226.1:n.598G>A
ENST00000530113.1:n.854G>A
ENST00000531133.5:c.898G>A	ENSP00000435431.1:n.898G>A
ENST00000531797.5:c.*422G>A	ENSP00000432554.1:n.*422G>A
ENST00000619430.1:c.528G>A	ENSP00000478572.1:n.528G>A
NM_000062.2:c.1397G>A , LRG_105t1:c.1397G>A	NP_000053.2:p.Arg466His
NM_001032295.1:c.1397G>A	NP_001027466.1:p.Arg466His
NM_000062.3:c.1397G>A MANE Select	NP_000053.2:p.Arg466His
NM_001032295.2:c.1397G>A	NP_001027466.1:p.Arg466His