Canonical Allele Identifier: CA380690700
Community Standard Title: NM_000062.3(SERPING1):c.1373C>T (p.Ala458Val)
Gene: SERPING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57614451C>T , CM000673.2:g.57614451C>T GRCh38
NC_000011.9:g.57381924C>T , CM000673.1:g.57381924C>T GRCh37
NC_000011.8:g.57138500C>T NCBI36
NG_009625.1:g.21898C>T , LRG_105:g.21898C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000062.3:c.1373C>T MANE Select NP_000053.2:p.Ala458Val
ENST00000278407.9:c.1373C>T MANE Select ENSP00000278407.4:p.Ala458Val
NM_000062.2:c.1373C>T , LRG_105t1:c.1373C>T NP_000053.2:p.Ala458Val
NM_001032295.1:c.1373C>T NP_001027466.1:p.Ala458Val
NM_001032295.2:c.1373C>T NP_001027466.1:p.Ala458Val
ENST00000278407.8:c.1373C>T ENSP00000278407.4:p.Ala458Val
ENST00000340687.10:c.1262C>T ENSP00000341861.6:p.Ala421Val
ENST00000378323.8:c.1388C>T ENSP00000367574.4:p.Ala463Val
ENST00000378324.6:c.1217C>T ENSP00000367575.2:p.Ala406Val
ENST00000403558.1:c.1502C>T ENSP00000384420.1:p.Ala501Val
ENST00000528996.1:c.574C>T ENSP00000431226.1:n.574C>T
ENST00000528996.2:c.*270C>T ENSP00000431226.2:n.*270C>T
ENST00000530113.1:n.830C>T
ENST00000531133.5:c.874C>T ENSP00000435431.1:n.874C>T
ENST00000531605.2:c.*1149C>T ENSP00000503752.1:n.*1149C>T
ENST00000531797.5:c.*398C>T ENSP00000432554.1:n.*398C>T
ENST00000619430.1:c.504C>T ENSP00000478572.1:n.504C>T
ENST00000619430.2:c.1169C>T ENSP00000478572.2:p.Ala390Val
ENST00000676670.1:c.1373C>T ENSP00000504807.1:p.Ala458Val
ENST00000676741.1:n.2455C>T
ENST00000677624.1:c.*793C>T ENSP00000503979.1:n.*793C>T
ENST00000677625.1:c.1319C>T ENSP00000502857.1:p.Ala440Val
ENST00000677856.1:n.1626C>T
ENST00000677915.1:c.*270C>T ENSP00000503118.1:n.*270C>T
ENST00000678533.1:c.*927C>T ENSP00000503873.1:n.*927C>T
ENST00000678592.1:c.*313C>T ENSP00000504424.1:n.*313C>T