Canonical Allele Identifier: CA380690812
Community Standard Title: NM_000062.3(SERPING1):c.1431C>A (p.Phe477Leu)
Gene: SERPING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57614509C>A , CM000673.2:g.57614509C>A GRCh38
NC_000011.9:g.57381982C>A , CM000673.1:g.57381982C>A GRCh37
NC_000011.8:g.57138558C>A NCBI36
NG_009625.1:g.21956C>A , LRG_105:g.21956C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000062.3:c.1431C>A MANE Select NP_000053.2:p.Phe477Leu
ENST00000278407.9:c.1431C>A MANE Select ENSP00000278407.4:p.Phe477Leu
NM_000062.2:c.1431C>A , LRG_105t1:c.1431C>A NP_000053.2:p.Phe477Leu
NM_001032295.1:c.1431C>A NP_001027466.1:p.Phe477Leu
NM_001032295.2:c.1431C>A NP_001027466.1:p.Phe477Leu
ENST00000278407.8:c.1431C>A ENSP00000278407.4:p.Phe477Leu
ENST00000340687.10:c.1320C>A ENSP00000341861.6:p.Phe440Leu
ENST00000378323.8:c.1446C>A ENSP00000367574.4:p.Phe482Leu
ENST00000378324.6:c.1275C>A ENSP00000367575.2:p.Phe425Leu
ENST00000403558.1:c.1560C>A ENSP00000384420.1:p.Phe520Leu
ENST00000528996.1:c.632C>A ENSP00000431226.1:n.632C>A
ENST00000528996.2:c.*328C>A ENSP00000431226.2:n.*328C>A
ENST00000530113.1:n.888C>A
ENST00000531133.5:c.932C>A ENSP00000435431.1:n.932C>A
ENST00000531605.2:c.*1207C>A ENSP00000503752.1:n.*1207C>A
ENST00000531797.5:c.*456C>A ENSP00000432554.1:n.*456C>A
ENST00000619430.1:c.562C>A ENSP00000478572.1:n.562C>A
ENST00000619430.2:c.1227C>A ENSP00000478572.2:p.Phe409Leu
ENST00000676670.1:c.1431C>A ENSP00000504807.1:p.Phe477Leu
ENST00000676741.1:n.2513C>A
ENST00000677624.1:c.*851C>A ENSP00000503979.1:n.*851C>A
ENST00000677625.1:c.1377C>A ENSP00000502857.1:p.Phe459Leu
ENST00000677856.1:n.1684C>A
ENST00000677915.1:c.*328C>A ENSP00000503118.1:n.*328C>A
ENST00000678533.1:c.*985C>A ENSP00000503873.1:n.*985C>A
ENST00000678592.1:c.*371C>A ENSP00000504424.1:n.*371C>A