Canonical Allele Identifier: CA353672550
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896598A>G , CM000665.2:g.93896598A>G GRCh38
NC_000003.11:g.93615442A>G , CM000665.1:g.93615442A>G GRCh37
NC_000003.10:g.95098132A>G NCBI36
NG_009813.1:g.82493T>C , LRG_572:g.82493T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.943T>C ENSP00000330021.7:p.Phe315Leu
ENST00000394236.9:c.943T>C MANE Select ENSP00000377783.3:p.Phe315Leu
ENST00000407433.6:c.898T>C ENSP00000385794.2:p.Phe300Leu
ENST00000647936.1:c.943T>C ENSP00000496822.1:p.Phe315Leu
ENST00000648381.1:n.1111T>C
ENST00000648853.1:c.901T>C ENSP00000497262.1:p.Phe301Leu
ENST00000649103.1:c.1042T>C ENSP00000497962.1:n.1042T>C
ENST00000650591.1:c.1039T>C ENSP00000497376.1:p.Phe347Leu
ENST00000394236.7:c.943T>C ENSP00000377783.3:p.Phe315Leu
ENST00000407433.5:c.550T>C ENSP00000385794.1:p.Phe184Leu
NM_000313.3:c.943T>C , LRG_572t1:c.943T>C NP_000304.2:p.Phe315Leu
NM_001314077.1:c.1039T>C , LRG_572t2:c.1039T>C NP_001301006.1:p.Phe347Leu
NM_000313.4:c.943T>C MANE Select NP_000304.2:p.Phe315Leu
NM_001314077.2:c.1039T>C NP_001301006.1:p.Phe347Leu