Canonical Allele Identifier: CA353669552
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93874295T>A , CM000665.2:g.93874295T>A GRCh38
NC_000003.11:g.93593139T>A , CM000665.1:g.93593139T>A GRCh37
NC_000003.10:g.95075829T>A NCBI36
NG_009813.1:g.104796A>T , LRG_572:g.104796A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.1981A>T ENSP00000330021.7:p.Ile661Phe
ENST00000394236.9:c.1981A>T MANE Select ENSP00000377783.3:p.Ile661Phe
ENST00000407433.6:c.1936A>T ENSP00000385794.2:p.Ile646Phe
ENST00000647936.1:c.*84A>T ENSP00000496822.1:n.*84A>T
ENST00000648381.1:n.2149A>T
ENST00000648853.1:c.1939A>T ENSP00000497262.1:p.Ile647Phe
ENST00000650591.1:c.2077A>T ENSP00000497376.1:p.Ile693Phe
ENST00000394236.7:c.1981A>T ENSP00000377783.3:p.Ile661Phe
ENST00000407433.5:c.1588A>T ENSP00000385794.1:p.Ile530Phe
NM_000313.3:c.1981A>T , LRG_572t1:c.1981A>T NP_000304.2:p.Ile661Phe
NM_001314077.1:c.2077A>T , LRG_572t2:c.2077A>T NP_001301006.1:p.Ile693Phe
NM_000313.4:c.1981A>T MANE Select NP_000304.2:p.Ile661Phe
NM_001314077.2:c.2077A>T NP_001301006.1:p.Ile693Phe