Canonical Allele Identifier: CA353671049
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93877058T>A , CM000665.2:g.93877058T>A GRCh38
NC_000003.11:g.93595902T>A , CM000665.1:g.93595902T>A GRCh37
NC_000003.10:g.95078592T>A NCBI36
NG_009813.1:g.102033A>T , LRG_572:g.102033A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.1778A>T ENSP00000330021.7:p.Glu593Val
ENST00000394236.9:c.1778A>T MANE Select ENSP00000377783.3:p.Glu593Val
ENST00000407433.6:c.1733A>T ENSP00000385794.2:p.Glu578Val
ENST00000647936.1:c.1644+2105A>T ENSP00000496822.1:n.1644+2105A>T
ENST00000648381.1:n.1946A>T
ENST00000648853.1:c.1736A>T ENSP00000497262.1:p.Glu579Val
ENST00000649103.1:c.1877A>T ENSP00000497962.1:n.1877A>T
ENST00000649585.1:c.721A>T ENSP00000498163.1:n.721A>T
ENST00000650591.1:c.1874A>T ENSP00000497376.1:p.Glu625Val
ENST00000394236.7:c.1778A>T ENSP00000377783.3:p.Glu593Val
ENST00000407433.5:c.1385A>T ENSP00000385794.1:p.Glu462Val
NM_000313.3:c.1778A>T , LRG_572t1:c.1778A>T NP_000304.2:p.Glu593Val
NM_001314077.1:c.1874A>T , LRG_572t2:c.1874A>T NP_001301006.1:p.Glu625Val
NM_000313.4:c.1778A>T MANE Select NP_000304.2:p.Glu593Val
NM_001314077.2:c.1874A>T NP_001301006.1:p.Glu625Val