Canonical Allele Identifier: CA1718180567
Community Standard Title: NM_001395413.1(POR):c.1813G= (p.Val605=)
Gene: POR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75986165G= , CM000669.2:g.75986165G= GRCh38
NC_000007.13:g.75615483G= , CM000669.1:g.75615483G= GRCh37
NC_000007.12:g.75453419G= NCBI36
NG_008930.1:g.76064G=

Transcript Alleles

HGVS Amino-acid Change
NM_001395413.1:c.1813G= MANE Select NP_001382342.1:p.Val605=
ENST00000461988.6:c.1822G= MANE Select ENSP00000419970.1:p.Val608=
NM_000941.2:c.1822G= NP_000932.3:p.Val608=
NM_000941.3:c.1822G= NP_000932.3:p.Val608=
NM_001367562.1:c.1822G= NP_001354491.1:p.Val608=
NM_001367562.3:c.1813G= NP_001354491.2:p.Val605=
NM_001382655.1:c.1876G= NP_001369584.1:p.Val626=
NM_001382655.3:c.1867G= NP_001369584.2:p.Val623=
NM_001382657.1:c.1822G= NP_001369586.1:p.Val608=
NM_001382657.2:c.1813G= NP_001369586.2:p.Val605=
NM_001382658.1:c.1822G= NP_001369587.1:p.Val608=
NM_001382658.3:c.1813G= NP_001369587.2:p.Val605=
NM_001382659.1:c.1822G= NP_001369588.1:p.Val608=
NM_001382659.3:c.1813G= NP_001369588.2:p.Val605=
NM_001382662.1:c.1672G= NP_001369591.1:p.Val558=
NM_001382662.3:c.1663G= NP_001369591.2:p.Val555=
ENST00000394893.5:c.1822G= ENSP00000378355.1:p.Val608=
ENST00000412064.6:c.*124G= ENSP00000404731.2:n.*124G=
ENST00000439269.1:c.1036G= ENSP00000412490.1:p.Val346=
ENST00000447222.5:c.1973G=
ENST00000454934.5:c.*1127G= ENSP00000414263.1:n.*1127G=
ENST00000461988.5:c.1822G= ENSP00000419970.1:p.Val608=
ENST00000475509.2:c.1597G= ENSP00000516446.1:p.Val533=
ENST00000493973.1:n.433G=
ENST00000706544.1:c.1723G= ENSP00000516442.1:p.Val575=
ENST00000706545.1:c.1822G= ENSP00000516443.1:p.Val608=
ENST00000706546.1:c.1822G= ENSP00000516444.1:p.Val608=
ENST00000706547.1:c.1822G= ENSP00000516445.1:p.Val608=