Canonical Allele Identifier: CA2503588

Gene: PROS1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927365C>A , CM000665.2:g.93927365C>A	GRCh38
NC_000003.11:g.93646209C>A , CM000665.1:g.93646209C>A	GRCh37
NC_000003.10:g.95128899C>A	NCBI36
NG_009813.1:g.51726G>T , LRG_572:g.51726G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000313.4:c.119G>T MANE Select	NP_000304.2:p.Arg40Leu
ENST00000394236.9:c.119G>T MANE Select	ENSP00000377783.3:p.Arg40Leu
NM_000313.3:c.119G>T , LRG_572t1:c.119G>T	NP_000304.2:p.Arg40Leu
NM_001314077.1:c.215G>T , LRG_572t2:c.215G>T	NP_001301006.1:p.Arg72Leu
NM_001314077.2:c.215G>T	NP_001301006.1:p.Arg72Leu
ENST00000348974.4:c.215G>T	ENSP00000330021.6:p.Arg72Leu
ENST00000348974.5:c.119G>T	ENSP00000330021.7:p.Arg40Leu
ENST00000394236.7:c.119G>T	ENSP00000377783.3:p.Arg40Leu
ENST00000407433.5:c.-275G>T	ENSP00000385794.1:n.-275G>T
ENST00000407433.6:c.119G>T	ENSP00000385794.2:p.Arg40Leu
ENST00000472684.1:c.-275G>T	ENSP00000419616.1:n.-275G>T
ENST00000472684.2:c.-275G>T	ENSP00000419616.2:n.-275G>T
ENST00000647936.1:c.119G>T	ENSP00000496822.1:p.Arg40Leu
ENST00000648381.1:n.287G>T
ENST00000648853.1:c.77G>T	ENSP00000497262.1:p.Arg26Leu
ENST00000649103.1:c.98G>T	ENSP00000497962.1:p.Arg33Leu
ENST00000650591.1:c.215G>T	ENSP00000497376.1:p.Arg72Leu