Canonical Allele Identifier: CA367749811
Community Standard Title: NM_001395413.1(POR):c.1361G>T (p.Arg454Leu)
Gene: POR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75985179G>T , CM000669.2:g.75985179G>T GRCh38
NC_000007.13:g.75614497G>T , CM000669.1:g.75614497G>T GRCh37
NC_000007.12:g.75452433G>T NCBI36
NG_008930.1:g.75078G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001395413.1:c.1361G>T MANE Select NP_001382342.1:p.Arg454Leu
ENST00000461988.6:c.1370G>T MANE Select ENSP00000419970.1:p.Arg457Leu
NM_000941.2:c.1370G>T NP_000932.3:p.Arg457Leu
NM_000941.3:c.1370G>T NP_000932.3:p.Arg457Leu
NM_001367562.1:c.1370G>T NP_001354491.1:p.Arg457Leu
NM_001367562.3:c.1361G>T NP_001354491.2:p.Arg454Leu
NM_001382655.1:c.1424G>T NP_001369584.1:p.Arg475Leu
NM_001382655.3:c.1415G>T NP_001369584.2:p.Arg472Leu
NM_001382657.1:c.1370G>T NP_001369586.1:p.Arg457Leu
NM_001382657.2:c.1361G>T NP_001369586.2:p.Arg454Leu
NM_001382658.1:c.1370G>T NP_001369587.1:p.Arg457Leu
NM_001382658.3:c.1361G>T NP_001369587.2:p.Arg454Leu
NM_001382659.1:c.1370G>T NP_001369588.1:p.Arg457Leu
NM_001382659.3:c.1361G>T NP_001369588.2:p.Arg454Leu
NM_001382662.1:c.1248+221G>T NP_001369591.1:n.1248+221G>T
NM_001382662.3:c.1239+221G>T NP_001369591.2:n.1239+221G>T
ENST00000394893.5:c.1370G>T ENSP00000378355.1:p.Arg457Leu
ENST00000412064.6:c.*109-881G>T ENSP00000404731.2:n.*109-881G>T
ENST00000439269.1:c.584G>T ENSP00000412490.1:p.Arg195Leu
ENST00000447222.5:c.1521G>T
ENST00000454934.5:c.*675G>T ENSP00000414263.1:n.*675G>T
ENST00000461988.5:c.1370G>T ENSP00000419970.1:p.Arg457Leu
ENST00000475509.2:c.1145G>T ENSP00000516446.1:p.Arg382Leu
ENST00000487247.5:n.725G>T
ENST00000495770.1:n.372G>T
ENST00000496888.5:n.744G>T
ENST00000706544.1:c.1271G>T ENSP00000516442.1:p.Arg424Leu
ENST00000706545.1:c.1370G>T ENSP00000516443.1:p.Arg457Leu
ENST00000706546.1:c.1370G>T ENSP00000516444.1:p.Arg457Leu
ENST00000706547.1:c.1370G>T ENSP00000516445.1:p.Arg457Leu