Canonical Allele Identifier: CA367750062

Gene: POR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985666T>A , CM000669.2:g.75985666T>A	GRCh38
NC_000007.13:g.75614984T>A , CM000669.1:g.75614984T>A	GRCh37
NC_000007.12:g.75452920T>A	NCBI36
NG_008930.1:g.75565T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001395413.1:c.1477T>A MANE Select	NP_001382342.1:p.Trp493Arg
ENST00000461988.6:c.1486T>A MANE Select	ENSP00000419970.1:p.Trp496Arg
NM_000941.2:c.1486T>A	NP_000932.3:p.Trp496Arg
NM_000941.3:c.1486T>A	NP_000932.3:p.Trp496Arg
NM_001367562.1:c.1486T>A	NP_001354491.1:p.Trp496Arg
NM_001367562.3:c.1477T>A	NP_001354491.2:p.Trp493Arg
NM_001382655.1:c.1540T>A	NP_001369584.1:p.Trp514Arg
NM_001382655.3:c.1531T>A	NP_001369584.2:p.Trp511Arg
NM_001382657.1:c.1486T>A	NP_001369586.1:p.Trp496Arg
NM_001382657.2:c.1477T>A	NP_001369586.2:p.Trp493Arg
NM_001382658.1:c.1486T>A	NP_001369587.1:p.Trp496Arg
NM_001382658.3:c.1477T>A	NP_001369587.2:p.Trp493Arg
NM_001382659.1:c.1486T>A	NP_001369588.1:p.Trp496Arg
NM_001382659.3:c.1477T>A	NP_001369588.2:p.Trp493Arg
NM_001382662.1:c.1336T>A	NP_001369591.1:p.Trp446Arg
NM_001382662.3:c.1327T>A	NP_001369591.2:p.Trp443Arg
ENST00000394893.5:c.1486T>A	ENSP00000378355.1:p.Trp496Arg
ENST00000412064.6:c.*109-394T>A	ENSP00000404731.2:n.*109-394T>A
ENST00000439269.1:c.700T>A	ENSP00000412490.1:p.Trp234Arg
ENST00000447222.5:c.1637T>A
ENST00000454934.5:c.*791T>A	ENSP00000414263.1:n.*791T>A
ENST00000461988.5:c.1486T>A	ENSP00000419970.1:p.Trp496Arg
ENST00000475509.2:c.1261T>A	ENSP00000516446.1:p.Trp421Arg
ENST00000493973.1:n.97T>A
ENST00000496888.5:n.860T>A
ENST00000706544.1:c.1387T>A	ENSP00000516442.1:p.Trp463Arg
ENST00000706545.1:c.1486T>A	ENSP00000516443.1:p.Trp496Arg
ENST00000706546.1:c.1486T>A	ENSP00000516444.1:p.Trp496Arg
ENST00000706547.1:c.1486T>A	ENSP00000516445.1:p.Trp496Arg