Canonical Allele Identifier: CA353672650
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896643G>T , CM000665.2:g.93896643G>T GRCh38
NC_000003.11:g.93615487G>T , CM000665.1:g.93615487G>T GRCh37
NC_000003.10:g.95098177G>T NCBI36
NG_009813.1:g.82448C>A , LRG_572:g.82448C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.898C>A ENSP00000330021.7:p.Leu300Ile
ENST00000394236.9:c.898C>A MANE Select ENSP00000377783.3:p.Leu300Ile
ENST00000407433.6:c.853C>A ENSP00000385794.2:p.Leu285Ile
ENST00000647936.1:c.898C>A ENSP00000496822.1:p.Leu300Ile
ENST00000648381.1:n.1066C>A
ENST00000648853.1:c.856C>A ENSP00000497262.1:p.Leu286Ile
ENST00000649103.1:c.997C>A ENSP00000497962.1:n.997C>A
ENST00000650591.1:c.994C>A ENSP00000497376.1:p.Leu332Ile
ENST00000394236.7:c.898C>A ENSP00000377783.3:p.Leu300Ile
ENST00000407433.5:c.505C>A ENSP00000385794.1:p.Leu169Ile
NM_000313.3:c.898C>A , LRG_572t1:c.898C>A NP_000304.2:p.Leu300Ile
NM_001314077.1:c.994C>A , LRG_572t2:c.994C>A NP_001301006.1:p.Leu332Ile
NM_000313.4:c.898C>A MANE Select NP_000304.2:p.Leu300Ile
NM_001314077.2:c.994C>A NP_001301006.1:p.Leu332Ile