Canonical Allele Identifier: CA380690859
Community Standard Title: NM_000062.3(SERPING1):c.1450C>T (p.Gln484Ter)
Gene: SERPING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57614528C>T , CM000673.2:g.57614528C>T GRCh38
NC_000011.9:g.57382001C>T , CM000673.1:g.57382001C>T GRCh37
NC_000011.8:g.57138577C>T NCBI36
NG_009625.1:g.21975C>T , LRG_105:g.21975C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000062.3:c.1450C>T MANE Select NP_000053.2:p.Gln484Ter
ENST00000278407.9:c.1450C>T MANE Select ENSP00000278407.4:p.Gln484Ter
NM_000062.2:c.1450C>T , LRG_105t1:c.1450C>T NP_000053.2:p.Gln484Ter
NM_001032295.1:c.1450C>T NP_001027466.1:p.Gln484Ter
NM_001032295.2:c.1450C>T NP_001027466.1:p.Gln484Ter
ENST00000278407.8:c.1450C>T ENSP00000278407.4:p.Gln484Ter
ENST00000340687.10:c.1339C>T ENSP00000341861.6:p.Gln447Ter
ENST00000378323.8:c.1465C>T ENSP00000367574.4:p.Gln489Ter
ENST00000378324.6:c.1294C>T ENSP00000367575.2:p.Gln432Ter
ENST00000403558.1:c.1579C>T ENSP00000384420.1:p.Gln527Ter
ENST00000528996.1:c.651C>T ENSP00000431226.1:n.651C>T
ENST00000528996.2:c.*347C>T ENSP00000431226.2:n.*347C>T
ENST00000530113.1:n.907C>T
ENST00000531133.5:c.951C>T ENSP00000435431.1:n.951C>T
ENST00000531605.2:c.*1226C>T ENSP00000503752.1:n.*1226C>T
ENST00000531797.5:c.*475C>T ENSP00000432554.1:n.*475C>T
ENST00000619430.1:c.581C>T ENSP00000478572.1:n.581C>T
ENST00000619430.2:c.1246C>T ENSP00000478572.2:p.Gln416Ter
ENST00000676670.1:c.1450C>T ENSP00000504807.1:p.Gln484Ter
ENST00000676741.1:n.2532C>T
ENST00000677624.1:c.*870C>T ENSP00000503979.1:n.*870C>T
ENST00000677625.1:c.1396C>T ENSP00000502857.1:p.Gln466Ter
ENST00000677856.1:n.1703C>T
ENST00000677915.1:c.*347C>T ENSP00000503118.1:n.*347C>T
ENST00000678533.1:c.*1004C>T ENSP00000503873.1:n.*1004C>T
ENST00000678592.1:c.*390C>T ENSP00000504424.1:n.*390C>T