Canonical Allele Identifier: CA1718180464
Community Standard Title: NM_001395413.1(POR):c.1724A= (p.Tyr575=)
Gene: POR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75985986A= , CM000669.2:g.75985986A= GRCh38
NC_000007.13:g.75615304A= , CM000669.1:g.75615304A= GRCh37
NC_000007.12:g.75453240A= NCBI36
NG_008930.1:g.75885A=

Transcript Alleles

HGVS Amino-acid Change
NM_001395413.1:c.1724A= MANE Select NP_001382342.1:p.Tyr575=
ENST00000461988.6:c.1733A= MANE Select ENSP00000419970.1:p.Tyr578=
NM_000941.2:c.1733A= NP_000932.3:p.Tyr578=
NM_000941.3:c.1733A= NP_000932.3:p.Tyr578=
NM_001367562.1:c.1733A= NP_001354491.1:p.Tyr578=
NM_001367562.3:c.1724A= NP_001354491.2:p.Tyr575=
NM_001382655.1:c.1787A= NP_001369584.1:p.Tyr596=
NM_001382655.3:c.1778A= NP_001369584.2:p.Tyr593=
NM_001382657.1:c.1733A= NP_001369586.1:p.Tyr578=
NM_001382657.2:c.1724A= NP_001369586.2:p.Tyr575=
NM_001382658.1:c.1733A= NP_001369587.1:p.Tyr578=
NM_001382658.3:c.1724A= NP_001369587.2:p.Tyr575=
NM_001382659.1:c.1733A= NP_001369588.1:p.Tyr578=
NM_001382659.3:c.1724A= NP_001369588.2:p.Tyr575=
NM_001382662.1:c.1583A= NP_001369591.1:p.Tyr528=
NM_001382662.3:c.1574A= NP_001369591.2:p.Tyr525=
ENST00000394893.5:c.1733A= ENSP00000378355.1:p.Tyr578=
ENST00000412064.6:c.*109-74A= ENSP00000404731.2:n.*109-74A=
ENST00000439269.1:c.947A= ENSP00000412490.1:p.Tyr316=
ENST00000447222.5:c.1884A=
ENST00000454934.5:c.*1038A= ENSP00000414263.1:n.*1038A=
ENST00000461988.5:c.1733A= ENSP00000419970.1:p.Tyr578=
ENST00000475509.2:c.1508A= ENSP00000516446.1:p.Tyr503=
ENST00000493973.1:n.344A=
ENST00000706544.1:c.1634A= ENSP00000516442.1:p.Tyr545=
ENST00000706545.1:c.1733A= ENSP00000516443.1:p.Tyr578=
ENST00000706546.1:c.1733A= ENSP00000516444.1:p.Tyr578=
ENST00000706547.1:c.1733A= ENSP00000516445.1:p.Tyr578=