Canonical Allele Identifier: CA380690172

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 2047029
• ClinVar RCV Id: RCV002903993
• dbSNP Id: rs1945512433
• gnomAD v3: 11-57614339-T-A
• gnomAD v4: 11-57614339-T-A
• MyVariant Identifiers: chr11:g.57381812T>A (hg19) ; chr11:g.57614339T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614339T>A , CM000673.2:g.57614339T>A	GRCh38
NC_000011.9:g.57381812T>A , CM000673.1:g.57381812T>A	GRCh37
NC_000011.8:g.57138388T>A	NCBI36
NG_009625.1:g.21786T>A , LRG_105:g.21786T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1261T>A MANE Select	ENSP00000278407.4:p.Phe421Ile
ENST00000528996.2:c.*158T>A	ENSP00000431226.2:n.*158T>A
ENST00000531605.2:c.*1037T>A	ENSP00000503752.1:n.*1037T>A
ENST00000619430.2:c.1057T>A	ENSP00000478572.2:p.Phe353Ile
ENST00000676670.1:c.1261T>A	ENSP00000504807.1:p.Phe421Ile
ENST00000676741.1:n.2343T>A
ENST00000677624.1:c.*681T>A	ENSP00000503979.1:n.*681T>A
ENST00000677625.1:c.1207T>A	ENSP00000502857.1:p.Phe403Ile
ENST00000677856.1:n.1514T>A
ENST00000677915.1:c.*158T>A	ENSP00000503118.1:n.*158T>A
ENST00000678533.1:c.*815T>A	ENSP00000503873.1:n.*815T>A
ENST00000678592.1:c.*201T>A	ENSP00000504424.1:n.*201T>A
ENST00000278407.8:c.1261T>A	ENSP00000278407.4:p.Phe421Ile
ENST00000340687.10:c.1150T>A	ENSP00000341861.6:p.Phe384Ile
ENST00000378323.8:c.1276T>A	ENSP00000367574.4:p.Phe426Ile
ENST00000378324.6:c.1105T>A	ENSP00000367575.2:p.Phe369Ile
ENST00000403558.1:c.1390T>A	ENSP00000384420.1:p.Phe464Ile
ENST00000528996.1:c.462T>A	ENSP00000431226.1:n.462T>A
ENST00000530113.1:n.718T>A
ENST00000531133.5:c.762T>A	ENSP00000435431.1:n.762T>A
ENST00000531797.5:c.*286T>A	ENSP00000432554.1:n.*286T>A
ENST00000619430.1:c.392T>A	ENSP00000478572.1:p.Phe131Tyr
NM_000062.2:c.1261T>A , LRG_105t1:c.1261T>A	NP_000053.2:p.Phe421Ile
NM_001032295.1:c.1261T>A	NP_001027466.1:p.Phe421Ile
NM_000062.3:c.1261T>A MANE Select	NP_000053.2:p.Phe421Ile
NM_001032295.2:c.1261T>A	NP_001027466.1:p.Phe421Ile