Canonical Allele Identifier: CA367749372
Gene: POR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75984872G>T , CM000669.2:g.75984872G>T GRCh38
NC_000007.13:g.75614190G>T , CM000669.1:g.75614190G>T GRCh37
NC_000007.12:g.75452126G>T NCBI36
NG_008930.1:g.74771G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000475509.2:c.937G>T ENSP00000516446.1:p.Val313Leu
ENST00000706544.1:c.1063G>T ENSP00000516442.1:p.Val355Leu
ENST00000706545.1:c.1162G>T ENSP00000516443.1:p.Val388Leu
ENST00000706546.1:c.1162G>T ENSP00000516444.1:p.Val388Leu
ENST00000706547.1:c.1162G>T ENSP00000516445.1:p.Val388Leu
ENST00000461988.6:c.1162G>T MANE Select ENSP00000419970.1:p.Val388Leu
ENST00000394893.5:c.1162G>T ENSP00000378355.1:p.Val388Leu
ENST00000412064.6:c.*109-1188G>T ENSP00000404731.2:n.*109-1188G>T
ENST00000439269.1:c.376G>T ENSP00000412490.1:p.Val126Leu
ENST00000447222.5:c.1313G>T
ENST00000454934.5:c.*467G>T ENSP00000414263.1:n.*467G>T
ENST00000461988.5:c.1162G>T ENSP00000419970.1:p.Val388Leu
ENST00000487247.5:n.517G>T
ENST00000495770.1:n.164G>T
ENST00000496888.5:n.536G>T
NM_000941.2:c.1162G>T NP_000932.3:p.Val388Leu
NM_000941.3:c.1162G>T NP_000932.3:p.Val388Leu
NM_001367562.1:c.1162G>T NP_001354491.1:p.Val388Leu
NM_001382655.1:c.1216G>T NP_001369584.1:p.Val406Leu
NM_001382657.1:c.1162G>T NP_001369586.1:p.Val388Leu
NM_001382658.1:c.1162G>T NP_001369587.1:p.Val388Leu
NM_001382659.1:c.1162G>T NP_001369588.1:p.Val388Leu
NM_001382662.1:c.1162G>T NP_001369591.1:p.Val388Leu
NM_001367562.3:c.1153G>T NP_001354491.2:p.Val385Leu
NM_001382655.3:c.1207G>T NP_001369584.2:p.Val403Leu
NM_001382657.2:c.1153G>T NP_001369586.2:p.Val385Leu
NM_001382658.3:c.1153G>T NP_001369587.2:p.Val385Leu
NM_001382659.3:c.1153G>T NP_001369588.2:p.Val385Leu
NM_001382662.3:c.1153G>T NP_001369591.2:p.Val385Leu
NM_001395413.1:c.1153G>T MANE Select NP_001382342.1:p.Val385Leu