Canonical Allele Identifier: CA353671442
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93877161T>A , CM000665.2:g.93877161T>A GRCh38
NC_000003.11:g.93596005T>A , CM000665.1:g.93596005T>A GRCh37
NC_000003.10:g.95078695T>A NCBI36
NG_009813.1:g.101930A>T , LRG_572:g.101930A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.1675A>T ENSP00000330021.7:p.Ile559Leu
ENST00000394236.9:c.1675A>T MANE Select ENSP00000377783.3:p.Ile559Leu
ENST00000407433.6:c.1630A>T ENSP00000385794.2:p.Ile544Leu
ENST00000647936.1:c.1644+2002A>T ENSP00000496822.1:n.1644+2002A>T
ENST00000648381.1:n.1843A>T
ENST00000648853.1:c.1633A>T ENSP00000497262.1:p.Ile545Leu
ENST00000649103.1:c.1774A>T ENSP00000497962.1:n.1774A>T
ENST00000649585.1:c.618A>T ENSP00000498163.1:n.618A>T
ENST00000650591.1:c.1771A>T ENSP00000497376.1:p.Ile591Leu
ENST00000394236.7:c.1675A>T ENSP00000377783.3:p.Ile559Leu
ENST00000407433.5:c.1282A>T ENSP00000385794.1:p.Ile428Leu
NM_000313.3:c.1675A>T , LRG_572t1:c.1675A>T NP_000304.2:p.Ile559Leu
NM_001314077.1:c.1771A>T , LRG_572t2:c.1771A>T NP_001301006.1:p.Ile591Leu
NM_000313.4:c.1675A>T MANE Select NP_000304.2:p.Ile559Leu
NM_001314077.2:c.1771A>T NP_001301006.1:p.Ile591Leu