Canonical Allele Identifier: CA380702289
Community Standard Title: NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter)
Gene: SERPING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57611723C>T , CM000673.2:g.57611723C>T GRCh38
NC_000011.9:g.57379196C>T , CM000673.1:g.57379196C>T GRCh37
NC_000011.8:g.57135772C>T NCBI36
NG_009625.1:g.19170C>T , LRG_105:g.19170C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000062.3:c.1036C>T MANE Select NP_000053.2:p.Gln346Ter
ENST00000278407.9:c.1036C>T MANE Select ENSP00000278407.4:p.Gln346Ter
NM_000062.2:c.1036C>T , LRG_105t1:c.1036C>T NP_000053.2:p.Gln346Ter
NM_001032295.1:c.1036C>T NP_001027466.1:p.Gln346Ter
NM_001032295.2:c.1036C>T NP_001027466.1:p.Gln346Ter
ENST00000278407.8:c.1036C>T ENSP00000278407.4:p.Gln346Ter
ENST00000340687.10:c.1030-105C>T ENSP00000341861.6:n.1030-105C>T
ENST00000378323.8:c.1051C>T ENSP00000367574.4:p.Gln351Ter
ENST00000378324.6:c.880C>T ENSP00000367575.2:p.Gln294Ter
ENST00000403558.1:c.1165C>T ENSP00000384420.1:p.Gln389Ter
ENST00000528996.1:c.237C>T ENSP00000431226.1:p.Gly79=
ENST00000528996.2:c.59-3C>T ENSP00000431226.2:n.59-3C>T
ENST00000530113.1:n.493C>T
ENST00000531133.5:c.537C>T ENSP00000435431.1:n.537C>T
ENST00000531605.2:c.*812C>T ENSP00000503752.1:n.*812C>T
ENST00000531797.5:c.*61C>T ENSP00000432554.1:n.*61C>T
ENST00000619430.1:c.349-182C>T ENSP00000478572.1:n.349-182C>T
ENST00000619430.2:c.832C>T ENSP00000478572.2:p.Gln278Ter
ENST00000676670.1:c.1036C>T ENSP00000504807.1:p.Gln346Ter
ENST00000676741.1:n.2118C>T
ENST00000677624.1:c.*456C>T ENSP00000503979.1:n.*456C>T
ENST00000677625.1:c.1030-48C>T ENSP00000502857.1:n.1030-48C>T
ENST00000677856.1:n.1289C>T
ENST00000677915.1:c.692C>T ENSP00000503118.1:p.Ala231Val
ENST00000678533.1:c.*590C>T ENSP00000503873.1:n.*590C>T
ENST00000678592.1:c.1125C>T ENSP00000504424.1:p.Gly375=