Canonical Allele Identifier: CA353672574
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896608T>A , CM000665.2:g.93896608T>A GRCh38
NC_000003.11:g.93615452T>A , CM000665.1:g.93615452T>A GRCh37
NC_000003.10:g.95098142T>A NCBI36
NG_009813.1:g.82483A>T , LRG_572:g.82483A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.933A>T ENSP00000330021.7:p.Leu311Phe
ENST00000394236.9:c.933A>T MANE Select ENSP00000377783.3:p.Leu311Phe
ENST00000407433.6:c.888A>T ENSP00000385794.2:p.Leu296Phe
ENST00000647936.1:c.933A>T ENSP00000496822.1:p.Leu311Phe
ENST00000648381.1:n.1101A>T
ENST00000648853.1:c.891A>T ENSP00000497262.1:p.Leu297Phe
ENST00000649103.1:c.1032A>T ENSP00000497962.1:n.1032A>T
ENST00000650591.1:c.1029A>T ENSP00000497376.1:p.Leu343Phe
ENST00000394236.7:c.933A>T ENSP00000377783.3:p.Leu311Phe
ENST00000407433.5:c.540A>T ENSP00000385794.1:p.Leu180Phe
NM_000313.3:c.933A>T , LRG_572t1:c.933A>T NP_000304.2:p.Leu311Phe
NM_001314077.1:c.1029A>T , LRG_572t2:c.1029A>T NP_001301006.1:p.Leu343Phe
NM_000313.4:c.933A>T MANE Select NP_000304.2:p.Leu311Phe
NM_001314077.2:c.1029A>T NP_001301006.1:p.Leu343Phe