Canonical Allele Identifier: CA353672579
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896610A>T , CM000665.2:g.93896610A>T GRCh38
NC_000003.11:g.93615454A>T , CM000665.1:g.93615454A>T GRCh37
NC_000003.10:g.95098144A>T NCBI36
NG_009813.1:g.82481T>A , LRG_572:g.82481T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.931T>A ENSP00000330021.7:p.Leu311Ile
ENST00000394236.9:c.931T>A MANE Select ENSP00000377783.3:p.Leu311Ile
ENST00000407433.6:c.886T>A ENSP00000385794.2:p.Leu296Ile
ENST00000647936.1:c.931T>A ENSP00000496822.1:p.Leu311Ile
ENST00000648381.1:n.1099T>A
ENST00000648853.1:c.889T>A ENSP00000497262.1:p.Leu297Ile
ENST00000649103.1:c.1030T>A ENSP00000497962.1:n.1030T>A
ENST00000650591.1:c.1027T>A ENSP00000497376.1:p.Leu343Ile
ENST00000394236.7:c.931T>A ENSP00000377783.3:p.Leu311Ile
ENST00000407433.5:c.538T>A ENSP00000385794.1:p.Leu180Ile
NM_000313.3:c.931T>A , LRG_572t1:c.931T>A NP_000304.2:p.Leu311Ile
NM_001314077.1:c.1027T>A , LRG_572t2:c.1027T>A NP_001301006.1:p.Leu343Ile
NM_000313.4:c.931T>A MANE Select NP_000304.2:p.Leu311Ile
NM_001314077.2:c.1027T>A NP_001301006.1:p.Leu343Ile