Canonical Allele Identifier: CA223024398
Community Standard Title: NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter)
Gene: SERPING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57614558C>T , CM000673.2:g.57614558C>T GRCh38
NC_000011.9:g.57382031C>T , CM000673.1:g.57382031C>T GRCh37
NC_000011.8:g.57138607C>T NCBI36
NG_009625.1:g.22005C>T , LRG_105:g.22005C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000062.3:c.1480C>T MANE Select NP_000053.2:p.Arg494Ter
ENST00000278407.9:c.1480C>T MANE Select ENSP00000278407.4:p.Arg494Ter
NM_000062.2:c.1480C>T , LRG_105t1:c.1480C>T NP_000053.2:p.Arg494Ter
NM_001032295.1:c.1480C>T NP_001027466.1:p.Arg494Ter
NM_001032295.2:c.1480C>T NP_001027466.1:p.Arg494Ter
ENST00000278407.8:c.1480C>T ENSP00000278407.4:p.Arg494Ter
ENST00000340687.10:c.1369C>T ENSP00000341861.6:p.Arg457Ter
ENST00000378323.8:c.1495C>T ENSP00000367574.4:p.Arg499Ter
ENST00000378324.6:c.1324C>T ENSP00000367575.2:p.Arg442Ter
ENST00000403558.1:c.1609C>T ENSP00000384420.1:p.Arg537Ter
ENST00000528996.1:c.681C>T ENSP00000431226.1:n.681C>T
ENST00000528996.2:c.*377C>T ENSP00000431226.2:n.*377C>T
ENST00000531133.5:c.981C>T ENSP00000435431.1:n.981C>T
ENST00000531605.2:c.*1256C>T ENSP00000503752.1:n.*1256C>T
ENST00000531797.5:c.*505C>T ENSP00000432554.1:n.*505C>T
ENST00000619430.1:c.611C>T ENSP00000478572.1:n.611C>T
ENST00000619430.2:c.1276C>T ENSP00000478572.2:p.Arg426Ter
ENST00000676670.1:c.1480C>T ENSP00000504807.1:p.Arg494Ter
ENST00000676741.1:n.2562C>T
ENST00000677624.1:c.*900C>T ENSP00000503979.1:n.*900C>T
ENST00000677625.1:c.1426C>T ENSP00000502857.1:p.Arg476Ter
ENST00000677856.1:n.1733C>T
ENST00000677915.1:c.*377C>T ENSP00000503118.1:n.*377C>T
ENST00000678533.1:c.*1034C>T ENSP00000503873.1:n.*1034C>T
ENST00000678592.1:c.*420C>T ENSP00000504424.1:n.*420C>T