Canonical Allele Identifier: CA353674629
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93927349T>A , CM000665.2:g.93927349T>A GRCh38
NC_000003.11:g.93646193T>A , CM000665.1:g.93646193T>A GRCh37
NC_000003.10:g.95128883T>A NCBI36
NG_009813.1:g.51742A>T , LRG_572:g.51742A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.135A>T ENSP00000330021.7:p.Leu45Phe
ENST00000394236.9:c.135A>T MANE Select ENSP00000377783.3:p.Leu45Phe
ENST00000407433.6:c.135A>T ENSP00000385794.2:p.Leu45Phe
ENST00000472684.2:c.-259A>T ENSP00000419616.2:n.-259A>T
ENST00000647936.1:c.135A>T ENSP00000496822.1:p.Leu45Phe
ENST00000648381.1:n.303A>T
ENST00000648853.1:c.93A>T ENSP00000497262.1:p.Leu31Phe
ENST00000649103.1:c.114A>T ENSP00000497962.1:p.Leu38Phe
ENST00000650591.1:c.231A>T ENSP00000497376.1:p.Leu77Phe
ENST00000348974.4:c.231A>T ENSP00000330021.6:p.Leu77Phe
ENST00000394236.7:c.135A>T ENSP00000377783.3:p.Leu45Phe
ENST00000407433.5:c.-259A>T ENSP00000385794.1:n.-259A>T
ENST00000472684.1:c.-259A>T ENSP00000419616.1:n.-259A>T
NM_000313.3:c.135A>T , LRG_572t1:c.135A>T NP_000304.2:p.Leu45Phe
NM_001314077.1:c.231A>T , LRG_572t2:c.231A>T NP_001301006.1:p.Leu77Phe
NM_000313.4:c.135A>T MANE Select NP_000304.2:p.Leu45Phe
NM_001314077.2:c.231A>T NP_001301006.1:p.Leu77Phe