Canonical Allele Identifier: CA353672611
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896627T>A , CM000665.2:g.93896627T>A GRCh38
NC_000003.11:g.93615471T>A , CM000665.1:g.93615471T>A GRCh37
NC_000003.10:g.95098161T>A NCBI36
NG_009813.1:g.82464A>T , LRG_572:g.82464A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.914A>T ENSP00000330021.7:p.Gln305Leu
ENST00000394236.9:c.914A>T MANE Select ENSP00000377783.3:p.Gln305Leu
ENST00000407433.6:c.869A>T ENSP00000385794.2:p.Gln290Leu
ENST00000647936.1:c.914A>T ENSP00000496822.1:p.Gln305Leu
ENST00000648381.1:n.1082A>T
ENST00000648853.1:c.872A>T ENSP00000497262.1:p.Gln291Leu
ENST00000649103.1:c.1013A>T ENSP00000497962.1:n.1013A>T
ENST00000650591.1:c.1010A>T ENSP00000497376.1:p.Gln337Leu
ENST00000394236.7:c.914A>T ENSP00000377783.3:p.Gln305Leu
ENST00000407433.5:c.521A>T ENSP00000385794.1:p.Gln174Leu
NM_000313.3:c.914A>T , LRG_572t1:c.914A>T NP_000304.2:p.Gln305Leu
NM_001314077.1:c.1010A>T , LRG_572t2:c.1010A>T NP_001301006.1:p.Gln337Leu
NM_000313.4:c.914A>T MANE Select NP_000304.2:p.Gln305Leu
NM_001314077.2:c.1010A>T NP_001301006.1:p.Gln337Leu