Canonical Allele Identifier: CA367749810
Gene: POR HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000475509.2:c.1145G>C ENSP00000516446.1:p.Arg382Pro
ENST00000706544.1:c.1271G>C ENSP00000516442.1:p.Arg424Pro
ENST00000706545.1:c.1370G>C ENSP00000516443.1:p.Arg457Pro
ENST00000706546.1:c.1370G>C ENSP00000516444.1:p.Arg457Pro
ENST00000706547.1:c.1370G>C ENSP00000516445.1:p.Arg457Pro
ENST00000461988.6:c.1370G>C MANE Select ENSP00000419970.1:p.Arg457Pro
ENST00000394893.5:c.1370G>C ENSP00000378355.1:p.Arg457Pro
ENST00000412064.6:c.*109-881G>C ENSP00000404731.2:n.*109-881G>C
ENST00000439269.1:c.584G>C ENSP00000412490.1:p.Arg195Pro
ENST00000447222.5:c.1521G>C
ENST00000454934.5:c.*675G>C ENSP00000414263.1:n.*675G>C
ENST00000461988.5:c.1370G>C ENSP00000419970.1:p.Arg457Pro
ENST00000487247.5:n.725G>C
ENST00000495770.1:n.372G>C
ENST00000496888.5:n.744G>C
NM_000941.2:c.1370G>C NP_000932.3:p.Arg457Pro
NM_000941.3:c.1370G>C NP_000932.3:p.Arg457Pro
NM_001367562.1:c.1370G>C NP_001354491.1:p.Arg457Pro
NM_001382655.1:c.1424G>C NP_001369584.1:p.Arg475Pro
NM_001382657.1:c.1370G>C NP_001369586.1:p.Arg457Pro
NM_001382658.1:c.1370G>C NP_001369587.1:p.Arg457Pro
NM_001382659.1:c.1370G>C NP_001369588.1:p.Arg457Pro
NM_001382662.1:c.1248+221G>C NP_001369591.1:n.1248+221G>C
NM_001367562.3:c.1361G>C NP_001354491.2:p.Arg454Pro
NM_001382655.3:c.1415G>C NP_001369584.2:p.Arg472Pro
NM_001382657.2:c.1361G>C NP_001369586.2:p.Arg454Pro
NM_001382658.3:c.1361G>C NP_001369587.2:p.Arg454Pro
NM_001382659.3:c.1361G>C NP_001369588.2:p.Arg454Pro
NM_001382662.3:c.1239+221G>C NP_001369591.2:n.1239+221G>C
NM_001395413.1:c.1361G>C MANE Select NP_001382342.1:p.Arg454Pro