Canonical Allele Identifier: CA353669266
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93874246T>A , CM000665.2:g.93874246T>A GRCh38
NC_000003.11:g.93593090T>A , CM000665.1:g.93593090T>A GRCh37
NC_000003.10:g.95075780T>A NCBI36
NG_009813.1:g.104845A>T , LRG_572:g.104845A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.2030A>T ENSP00000330021.7:p.Ter677Leu
ENST00000394236.9:c.2030A>T MANE Select ENSP00000377783.3:p.Ter677Leu
ENST00000407433.6:c.1985A>T ENSP00000385794.2:p.Ter662Leu
ENST00000647936.1:c.*133A>T ENSP00000496822.1:n.*133A>T
ENST00000648381.1:n.2198A>T
ENST00000648853.1:c.1988A>T ENSP00000497262.1:p.Ter663Leu
ENST00000650591.1:c.2126A>T ENSP00000497376.1:p.Ter709Leu
ENST00000394236.7:c.2030A>T ENSP00000377783.3:p.Ter677Leu
ENST00000407433.5:c.1637A>T ENSP00000385794.1:p.Ter546Leu
NM_000313.3:c.2030A>T , LRG_572t1:c.2030A>T NP_000304.2:p.Ter677Leu
NM_001314077.1:c.2126A>T , LRG_572t2:c.2126A>T NP_001301006.1:p.Ter709Leu
NM_000313.4:c.2030A>T MANE Select NP_000304.2:p.Ter677Leu
NM_001314077.2:c.2126A>T NP_001301006.1:p.Ter709Leu