Canonical Allele Identifier: CA1718178989
Community Standard Title: NM_001395413.1(POR):c.850G= (p.Ala284=)
Gene: POR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75983548G= , CM000669.2:g.75983548G= GRCh38
NC_000007.13:g.75612866G= , CM000669.1:g.75612866G= GRCh37
NC_000007.12:g.75450802G= NCBI36
NG_008930.1:g.73447G=

Transcript Alleles

HGVS Amino-acid Change
NM_001395413.1:c.850G= MANE Select NP_001382342.1:p.Ala284=
ENST00000461988.6:c.859G= MANE Select ENSP00000419970.1:p.Ala287=
NM_000941.2:c.859G= NP_000932.3:p.Ala287=
NM_000941.3:c.859G= NP_000932.3:p.Ala287=
NM_001367562.1:c.859G= NP_001354491.1:p.Ala287=
NM_001367562.3:c.850G= NP_001354491.2:p.Ala284=
NM_001382655.1:c.913G= NP_001369584.1:p.Ala305=
NM_001382655.3:c.904G= NP_001369584.2:p.Ala302=
NM_001382657.1:c.859G= NP_001369586.1:p.Ala287=
NM_001382657.2:c.850G= NP_001369586.2:p.Ala284=
NM_001382658.1:c.859G= NP_001369587.1:p.Ala287=
NM_001382658.3:c.850G= NP_001369587.2:p.Ala284=
NM_001382659.1:c.859G= NP_001369588.1:p.Ala287=
NM_001382659.3:c.850G= NP_001369588.2:p.Ala284=
NM_001382662.1:c.859G= NP_001369591.1:p.Ala287=
NM_001382662.3:c.850G= NP_001369591.2:p.Ala284=
ENST00000394893.5:c.859G= ENSP00000378355.1:p.Ala287=
ENST00000412064.6:c.*20G= ENSP00000404731.2:n.*20G=
ENST00000439269.1:c.73G= ENSP00000412490.1:p.Ala25=
ENST00000447222.5:c.1010G=
ENST00000454934.5:c.*164G= ENSP00000414263.1:n.*164G=
ENST00000460892.1:n.459G=
ENST00000461988.5:c.859G= ENSP00000419970.1:p.Ala287=
ENST00000475509.2:c.634G= ENSP00000516446.1:p.Ala212=
ENST00000487247.5:n.113G=
ENST00000496888.5:n.233G=
ENST00000706544.1:c.760G= ENSP00000516442.1:p.Ala254=
ENST00000706545.1:c.859G= ENSP00000516443.1:p.Ala287=
ENST00000706546.1:c.859G= ENSP00000516444.1:p.Ala287=
ENST00000706547.1:c.859G= ENSP00000516445.1:p.Ala287=