Canonical Allele Identifier: CA6008269
Community Standard Title: NM_000062.3(SERPING1):c.1269T>C (p.Tyr423=)
Gene: SERPING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57614347T>C , CM000673.2:g.57614347T>C GRCh38
NC_000011.9:g.57381820T>C , CM000673.1:g.57381820T>C GRCh37
NC_000011.8:g.57138396T>C NCBI36
NG_009625.1:g.21794T>C , LRG_105:g.21794T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000062.3:c.1269T>C MANE Select NP_000053.2:p.Tyr423=
ENST00000278407.9:c.1269T>C MANE Select ENSP00000278407.4:p.Tyr423=
NM_000062.2:c.1269T>C , LRG_105t1:c.1269T>C NP_000053.2:p.Tyr423=
NM_001032295.1:c.1269T>C NP_001027466.1:p.Tyr423=
NM_001032295.2:c.1269T>C NP_001027466.1:p.Tyr423=
ENST00000278407.8:c.1269T>C ENSP00000278407.4:p.Tyr423=
ENST00000340687.10:c.1158T>C ENSP00000341861.6:p.Tyr386=
ENST00000378323.8:c.1284T>C ENSP00000367574.4:p.Tyr428=
ENST00000378324.6:c.1113T>C ENSP00000367575.2:p.Tyr371=
ENST00000403558.1:c.1398T>C ENSP00000384420.1:p.Tyr466=
ENST00000528996.1:c.470T>C ENSP00000431226.1:n.470T>C
ENST00000528996.2:c.*166T>C ENSP00000431226.2:n.*166T>C
ENST00000530113.1:n.726T>C
ENST00000531133.5:c.770T>C ENSP00000435431.1:n.770T>C
ENST00000531605.2:c.*1045T>C ENSP00000503752.1:n.*1045T>C
ENST00000531797.5:c.*294T>C ENSP00000432554.1:n.*294T>C
ENST00000619430.1:c.400T>C ENSP00000478572.1:p.Ter134Arg
ENST00000619430.2:c.1065T>C ENSP00000478572.2:p.Tyr355=
ENST00000676670.1:c.1269T>C ENSP00000504807.1:p.Tyr423=
ENST00000676741.1:n.2351T>C
ENST00000677624.1:c.*689T>C ENSP00000503979.1:n.*689T>C
ENST00000677625.1:c.1215T>C ENSP00000502857.1:p.Tyr405=
ENST00000677856.1:n.1522T>C
ENST00000677915.1:c.*166T>C ENSP00000503118.1:n.*166T>C
ENST00000678533.1:c.*823T>C ENSP00000503873.1:n.*823T>C
ENST00000678592.1:c.*209T>C ENSP00000504424.1:n.*209T>C