Canonical Allele Identifier: CA1718180446
Community Standard Title: NM_001395413.1(POR):c.1697G= (p.Cys566=)
Gene: POR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75985959G= , CM000669.2:g.75985959G= GRCh38
NC_000007.13:g.75615277G= , CM000669.1:g.75615277G= GRCh37
NC_000007.12:g.75453213G= NCBI36
NG_008930.1:g.75858G=

Transcript Alleles

HGVS Amino-acid Change
NM_001395413.1:c.1697G= MANE Select NP_001382342.1:p.Cys566=
ENST00000461988.6:c.1706G= MANE Select ENSP00000419970.1:p.Cys569=
NM_000941.2:c.1706G= NP_000932.3:p.Cys569=
NM_000941.3:c.1706G= NP_000932.3:p.Cys569=
NM_001367562.1:c.1706G= NP_001354491.1:p.Cys569=
NM_001367562.3:c.1697G= NP_001354491.2:p.Cys566=
NM_001382655.1:c.1760G= NP_001369584.1:p.Cys587=
NM_001382655.3:c.1751G= NP_001369584.2:p.Cys584=
NM_001382657.1:c.1706G= NP_001369586.1:p.Cys569=
NM_001382657.2:c.1697G= NP_001369586.2:p.Cys566=
NM_001382658.1:c.1706G= NP_001369587.1:p.Cys569=
NM_001382658.3:c.1697G= NP_001369587.2:p.Cys566=
NM_001382659.1:c.1706G= NP_001369588.1:p.Cys569=
NM_001382659.3:c.1697G= NP_001369588.2:p.Cys566=
NM_001382662.1:c.1556G= NP_001369591.1:p.Cys519=
NM_001382662.3:c.1547G= NP_001369591.2:p.Cys516=
ENST00000394893.5:c.1706G= ENSP00000378355.1:p.Cys569=
ENST00000412064.6:c.*109-101G= ENSP00000404731.2:n.*109-101G=
ENST00000439269.1:c.920G= ENSP00000412490.1:p.Cys307=
ENST00000447222.5:c.1857G=
ENST00000454934.5:c.*1011G= ENSP00000414263.1:n.*1011G=
ENST00000461988.5:c.1706G= ENSP00000419970.1:p.Cys569=
ENST00000475509.2:c.1481G= ENSP00000516446.1:p.Cys494=
ENST00000493973.1:n.317G=
ENST00000706544.1:c.1607G= ENSP00000516442.1:p.Cys536=
ENST00000706545.1:c.1706G= ENSP00000516443.1:p.Cys569=
ENST00000706546.1:c.1706G= ENSP00000516444.1:p.Cys569=
ENST00000706547.1:c.1706G= ENSP00000516445.1:p.Cys569=