Canonical Allele Identifier: CA456331399

Gene: POR

Linked Data

• gnomAD v4: 7-75985988-C-A
• MyVariant Identifiers: chr7:g.75615306C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985988C>A , CM000669.2:g.75985988C>A	GRCh38
NC_000007.13:g.75615306C>A , CM000669.1:g.75615306C>A	GRCh37
NC_000007.12:g.75453242C>A	NCBI36
NG_008930.1:g.75887C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475509.2:c.1510C>A	ENSP00000516446.1:p.Arg504=
ENST00000706544.1:c.1636C>A	ENSP00000516442.1:p.Arg546=
ENST00000706545.1:c.1735C>A	ENSP00000516443.1:p.Arg579=
ENST00000706546.1:c.1735C>A	ENSP00000516444.1:p.Arg579=
ENST00000706547.1:c.1735C>A	ENSP00000516445.1:p.Arg579=
ENST00000461988.6:c.1735C>A MANE Select	ENSP00000419970.1:p.Arg579=
ENST00000394893.5:c.1735C>A	ENSP00000378355.1:p.Arg579=
ENST00000412064.6:c.*109-72C>A	ENSP00000404731.2:n.*109-72C>A
ENST00000439269.1:c.949C>A	ENSP00000412490.1:p.Arg317=
ENST00000447222.5:c.1886C>A
ENST00000454934.5:c.*1040C>A	ENSP00000414263.1:n.*1040C>A
ENST00000461988.5:c.1735C>A	ENSP00000419970.1:p.Arg579=
ENST00000493973.1:n.346C>A
NM_000941.2:c.1735C>A	NP_000932.3:p.Arg579=
NM_000941.3:c.1735C>A	NP_000932.3:p.Arg579=
NM_001367562.1:c.1735C>A	NP_001354491.1:p.Arg579=
NM_001382655.1:c.1789C>A	NP_001369584.1:p.Arg597=
NM_001382657.1:c.1735C>A	NP_001369586.1:p.Arg579=
NM_001382658.1:c.1735C>A	NP_001369587.1:p.Arg579=
NM_001382659.1:c.1735C>A	NP_001369588.1:p.Arg579=
NM_001382662.1:c.1585C>A	NP_001369591.1:p.Arg529=
NM_001367562.3:c.1726C>A	NP_001354491.2:p.Arg576=
NM_001382655.3:c.1780C>A	NP_001369584.2:p.Arg594=
NM_001382657.2:c.1726C>A	NP_001369586.2:p.Arg576=
NM_001382658.3:c.1726C>A	NP_001369587.2:p.Arg576=
NM_001382659.3:c.1726C>A	NP_001369588.2:p.Arg576=
NM_001382662.3:c.1576C>A	NP_001369591.2:p.Arg526=
NM_001395413.1:c.1726C>A MANE Select	NP_001382342.1:p.Arg576=