Canonical Allele Identifier: CA353672602
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896623A>T , CM000665.2:g.93896623A>T GRCh38
NC_000003.11:g.93615467A>T , CM000665.1:g.93615467A>T GRCh37
NC_000003.10:g.95098157A>T NCBI36
NG_009813.1:g.82468T>A , LRG_572:g.82468T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.918T>A ENSP00000330021.7:p.Phe306Leu
ENST00000394236.9:c.918T>A MANE Select ENSP00000377783.3:p.Phe306Leu
ENST00000407433.6:c.873T>A ENSP00000385794.2:p.Phe291Leu
ENST00000647936.1:c.918T>A ENSP00000496822.1:p.Phe306Leu
ENST00000648381.1:n.1086T>A
ENST00000648853.1:c.876T>A ENSP00000497262.1:p.Phe292Leu
ENST00000649103.1:c.1017T>A ENSP00000497962.1:n.1017T>A
ENST00000650591.1:c.1014T>A ENSP00000497376.1:p.Phe338Leu
ENST00000394236.7:c.918T>A ENSP00000377783.3:p.Phe306Leu
ENST00000407433.5:c.525T>A ENSP00000385794.1:p.Phe175Leu
NM_000313.3:c.918T>A , LRG_572t1:c.918T>A NP_000304.2:p.Phe306Leu
NM_001314077.1:c.1014T>A , LRG_572t2:c.1014T>A NP_001301006.1:p.Phe338Leu
NM_000313.4:c.918T>A MANE Select NP_000304.2:p.Phe306Leu
NM_001314077.2:c.1014T>A NP_001301006.1:p.Phe338Leu