Canonical Allele Identifier: CA380703540
Community Standard Title: NM_000062.3(SERPING1):c.1247T>A (p.Leu416Ter)
Gene: SERPING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57611934T>A , CM000673.2:g.57611934T>A GRCh38
NC_000011.9:g.57379407T>A , CM000673.1:g.57379407T>A GRCh37
NC_000011.8:g.57135983T>A NCBI36
NG_009625.1:g.19381T>A , LRG_105:g.19381T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000062.3:c.1247T>A MANE Select NP_000053.2:p.Leu416Ter
ENST00000278407.9:c.1247T>A MANE Select ENSP00000278407.4:p.Leu416Ter
NM_000062.2:c.1247T>A , LRG_105t1:c.1247T>A NP_000053.2:p.Leu416Ter
NM_001032295.1:c.1247T>A NP_001027466.1:p.Leu416Ter
NM_001032295.2:c.1247T>A NP_001027466.1:p.Leu416Ter
ENST00000278407.8:c.1247T>A ENSP00000278407.4:p.Leu416Ter
ENST00000340687.10:c.1136T>A ENSP00000341861.6:p.Leu379Ter
ENST00000378323.8:c.1262T>A ENSP00000367574.4:p.Leu421Ter
ENST00000378324.6:c.1091T>A ENSP00000367575.2:p.Leu364Ter
ENST00000403558.1:c.1376T>A ENSP00000384420.1:p.Leu459Ter
ENST00000528996.1:c.448T>A ENSP00000431226.1:n.448T>A
ENST00000528996.2:c.*144T>A ENSP00000431226.2:n.*144T>A
ENST00000530113.1:n.704T>A
ENST00000531133.5:c.748T>A ENSP00000435431.1:n.748T>A
ENST00000531605.2:c.*1023T>A ENSP00000503752.1:n.*1023T>A
ENST00000531797.5:c.*272T>A ENSP00000432554.1:n.*272T>A
ENST00000619430.1:c.378T>A ENSP00000478572.1:p.Ile126=
ENST00000619430.2:c.1043T>A ENSP00000478572.2:p.Leu348Ter
ENST00000676670.1:c.1247T>A ENSP00000504807.1:p.Leu416Ter
ENST00000676741.1:n.2329T>A
ENST00000677624.1:c.*667T>A ENSP00000503979.1:n.*667T>A
ENST00000677625.1:c.1193T>A ENSP00000502857.1:p.Leu398Ter
ENST00000677856.1:n.1500T>A
ENST00000677915.1:c.*144T>A ENSP00000503118.1:n.*144T>A
ENST00000678533.1:c.*801T>A ENSP00000503873.1:n.*801T>A
ENST00000678592.1:c.*187T>A ENSP00000504424.1:n.*187T>A