Canonical Allele Identifier: CA353669899
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93874354T>A , CM000665.2:g.93874354T>A GRCh38
NC_000003.11:g.93593198T>A , CM000665.1:g.93593198T>A GRCh37
NC_000003.10:g.95075888T>A NCBI36
NG_009813.1:g.104737A>T , LRG_572:g.104737A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.1922A>T ENSP00000330021.7:p.Glu641Val
ENST00000394236.9:c.1922A>T MANE Select ENSP00000377783.3:p.Glu641Val
ENST00000407433.6:c.1877A>T ENSP00000385794.2:p.Glu626Val
ENST00000647936.1:c.*25A>T ENSP00000496822.1:n.*25A>T
ENST00000648381.1:n.2090A>T
ENST00000648853.1:c.1880A>T ENSP00000497262.1:p.Glu627Val
ENST00000650591.1:c.2018A>T ENSP00000497376.1:p.Glu673Val
ENST00000394236.7:c.1922A>T ENSP00000377783.3:p.Glu641Val
ENST00000407433.5:c.1529A>T ENSP00000385794.1:p.Glu510Val
NM_000313.3:c.1922A>T , LRG_572t1:c.1922A>T NP_000304.2:p.Glu641Val
NM_001314077.1:c.2018A>T , LRG_572t2:c.2018A>T NP_001301006.1:p.Glu673Val
NM_000313.4:c.1922A>T MANE Select NP_000304.2:p.Glu641Val
NM_001314077.2:c.2018A>T NP_001301006.1:p.Glu673Val