Canonical Allele Identifier: CA123033

Gene: PROS1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874245T>A , CM000665.2:g.93874245T>A	GRCh38
NC_000003.11:g.93593089T>A , CM000665.1:g.93593089T>A	GRCh37
NC_000003.10:g.95075779T>A	NCBI36
NG_009813.1:g.104846A>T , LRG_572:g.104846A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000313.4:c.2031A>T MANE Select	NP_000304.2:p.Ter677Tyr
ENST00000394236.9:c.2031A>T MANE Select	ENSP00000377783.3:p.Ter677Tyr
NM_000313.3:c.2031A>T , LRG_572t1:c.2031A>T	NP_000304.2:p.Ter677Tyr
NM_001314077.1:c.2127A>T , LRG_572t2:c.2127A>T	NP_001301006.1:p.Ter709Tyr
NM_001314077.2:c.2127A>T	NP_001301006.1:p.Ter709Tyr
ENST00000348974.5:c.2031A>T	ENSP00000330021.7:p.Ter677Tyr
ENST00000394236.7:c.2031A>T	ENSP00000377783.3:p.Ter677Tyr
ENST00000407433.5:c.1638A>T	ENSP00000385794.1:p.Ter546Tyr
ENST00000407433.6:c.1986A>T	ENSP00000385794.2:p.Ter662Tyr
ENST00000647936.1:c.*134A>T	ENSP00000496822.1:n.*134A>T
ENST00000648381.1:n.2199A>T
ENST00000648853.1:c.1989A>T	ENSP00000497262.1:p.Ter663Tyr
ENST00000650591.1:c.2127A>T	ENSP00000497376.1:p.Ter709Tyr