Canonical Allele Identifier: CA456331437

Gene: POR

Linked Data

• gnomAD v4: 7-75986008-C-T
• MyVariant Identifiers: chr7:g.75615326C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75986008C>T , CM000669.2:g.75986008C>T	GRCh38
NC_000007.13:g.75615326C>T , CM000669.1:g.75615326C>T	GRCh37
NC_000007.12:g.75453262C>T	NCBI36
NG_008930.1:g.75907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1530C>T	ENSP00000516446.1:p.Phe510=
ENST00000706544.1:c.1656C>T	ENSP00000516442.1:p.Phe552=
ENST00000706545.1:c.1755C>T	ENSP00000516443.1:p.Phe585=
ENST00000706546.1:c.1755C>T	ENSP00000516444.1:p.Phe585=
ENST00000706547.1:c.1755C>T	ENSP00000516445.1:p.Phe585=
ENST00000461988.6:c.1755C>T MANE Select	ENSP00000419970.1:p.Phe585=
ENST00000394893.5:c.1755C>T	ENSP00000378355.1:p.Phe585=
ENST00000412064.6:c.*109-52C>T	ENSP00000404731.2:n.*109-52C>T
ENST00000439269.1:c.969C>T	ENSP00000412490.1:p.Phe323=
ENST00000447222.5:c.1906C>T
ENST00000454934.5:c.*1060C>T	ENSP00000414263.1:n.*1060C>T
ENST00000461988.5:c.1755C>T	ENSP00000419970.1:p.Phe585=
ENST00000493973.1:n.366C>T
NM_000941.2:c.1755C>T	NP_000932.3:p.Phe585=
NM_000941.3:c.1755C>T	NP_000932.3:p.Phe585=
NM_001367562.1:c.1755C>T	NP_001354491.1:p.Phe585=
NM_001382655.1:c.1809C>T	NP_001369584.1:p.Phe603=
NM_001382657.1:c.1755C>T	NP_001369586.1:p.Phe585=
NM_001382658.1:c.1755C>T	NP_001369587.1:p.Phe585=
NM_001382659.1:c.1755C>T	NP_001369588.1:p.Phe585=
NM_001382662.1:c.1605C>T	NP_001369591.1:p.Phe535=
NM_001367562.3:c.1746C>T	NP_001354491.2:p.Phe582=
NM_001382655.3:c.1800C>T	NP_001369584.2:p.Phe600=
NM_001382657.2:c.1746C>T	NP_001369586.2:p.Phe582=
NM_001382658.3:c.1746C>T	NP_001369587.2:p.Phe582=
NM_001382659.3:c.1746C>T	NP_001369588.2:p.Phe582=
NM_001382662.3:c.1596C>T	NP_001369591.2:p.Phe532=
NM_001395413.1:c.1746C>T MANE Select	NP_001382342.1:p.Phe582=