Canonical Allele Identifier: CA380690797
Community Standard Title: NM_000062.3(SERPING1):c.1424A>C (p.Gln475Pro)
Gene: SERPING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57614502A>C , CM000673.2:g.57614502A>C GRCh38
NC_000011.9:g.57381975A>C , CM000673.1:g.57381975A>C GRCh37
NC_000011.8:g.57138551A>C NCBI36
NG_009625.1:g.21949A>C , LRG_105:g.21949A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000062.3:c.1424A>C MANE Select NP_000053.2:p.Gln475Pro
ENST00000278407.9:c.1424A>C MANE Select ENSP00000278407.4:p.Gln475Pro
NM_000062.2:c.1424A>C , LRG_105t1:c.1424A>C NP_000053.2:p.Gln475Pro
NM_001032295.1:c.1424A>C NP_001027466.1:p.Gln475Pro
NM_001032295.2:c.1424A>C NP_001027466.1:p.Gln475Pro
ENST00000278407.8:c.1424A>C ENSP00000278407.4:p.Gln475Pro
ENST00000340687.10:c.1313A>C ENSP00000341861.6:p.Gln438Pro
ENST00000378323.8:c.1439A>C ENSP00000367574.4:p.Gln480Pro
ENST00000378324.6:c.1268A>C ENSP00000367575.2:p.Gln423Pro
ENST00000403558.1:c.1553A>C ENSP00000384420.1:p.Gln518Pro
ENST00000528996.1:c.625A>C ENSP00000431226.1:n.625A>C
ENST00000528996.2:c.*321A>C ENSP00000431226.2:n.*321A>C
ENST00000530113.1:n.881A>C
ENST00000531133.5:c.925A>C ENSP00000435431.1:n.925A>C
ENST00000531605.2:c.*1200A>C ENSP00000503752.1:n.*1200A>C
ENST00000531797.5:c.*449A>C ENSP00000432554.1:n.*449A>C
ENST00000619430.1:c.555A>C ENSP00000478572.1:n.555A>C
ENST00000619430.2:c.1220A>C ENSP00000478572.2:p.Gln407Pro
ENST00000676670.1:c.1424A>C ENSP00000504807.1:p.Gln475Pro
ENST00000676741.1:n.2506A>C
ENST00000677624.1:c.*844A>C ENSP00000503979.1:n.*844A>C
ENST00000677625.1:c.1370A>C ENSP00000502857.1:p.Gln457Pro
ENST00000677856.1:n.1677A>C
ENST00000677915.1:c.*321A>C ENSP00000503118.1:n.*321A>C
ENST00000678533.1:c.*978A>C ENSP00000503873.1:n.*978A>C
ENST00000678592.1:c.*364A>C ENSP00000504424.1:n.*364A>C