Canonical Allele Identifier: CA367749499

Gene: POR

Linked Data

• MyVariant Identifiers: chr7:g.75614253G>A (hg19) ; chr7:g.75984935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984935G>A , CM000669.2:g.75984935G>A	GRCh38
NC_000007.13:g.75614253G>A , CM000669.1:g.75614253G>A	GRCh37
NC_000007.12:g.75452189G>A	NCBI36
NG_008930.1:g.74834G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1000G>A	ENSP00000516446.1:p.Ala334Thr
ENST00000706544.1:c.1126G>A	ENSP00000516442.1:p.Ala376Thr
ENST00000706545.1:c.1225G>A	ENSP00000516443.1:p.Ala409Thr
ENST00000706546.1:c.1225G>A	ENSP00000516444.1:p.Ala409Thr
ENST00000706547.1:c.1225G>A	ENSP00000516445.1:p.Ala409Thr
ENST00000461988.6:c.1225G>A MANE Select	ENSP00000419970.1:p.Ala409Thr
ENST00000394893.5:c.1225G>A	ENSP00000378355.1:p.Ala409Thr
ENST00000412064.6:c.*109-1125G>A	ENSP00000404731.2:n.*109-1125G>A
ENST00000439269.1:c.439G>A	ENSP00000412490.1:p.Ala147Thr
ENST00000447222.5:c.1376G>A
ENST00000454934.5:c.*530G>A	ENSP00000414263.1:n.*530G>A
ENST00000461988.5:c.1225G>A	ENSP00000419970.1:p.Ala409Thr
ENST00000487247.5:n.580G>A
ENST00000495770.1:n.227G>A
ENST00000496888.5:n.599G>A
NM_000941.2:c.1225G>A	NP_000932.3:p.Ala409Thr
NM_000941.3:c.1225G>A	NP_000932.3:p.Ala409Thr
NM_001367562.1:c.1225G>A	NP_001354491.1:p.Ala409Thr
NM_001382655.1:c.1279G>A	NP_001369584.1:p.Ala427Thr
NM_001382657.1:c.1225G>A	NP_001369586.1:p.Ala409Thr
NM_001382658.1:c.1225G>A	NP_001369587.1:p.Ala409Thr
NM_001382659.1:c.1225G>A	NP_001369588.1:p.Ala409Thr
NM_001382662.1:c.1225G>A	NP_001369591.1:p.Ala409Thr
NM_001367562.3:c.1216G>A	NP_001354491.2:p.Ala406Thr
NM_001382655.3:c.1270G>A	NP_001369584.2:p.Ala424Thr
NM_001382657.2:c.1216G>A	NP_001369586.2:p.Ala406Thr
NM_001382658.3:c.1216G>A	NP_001369587.2:p.Ala406Thr
NM_001382659.3:c.1216G>A	NP_001369588.2:p.Ala406Thr
NM_001382662.3:c.1216G>A	NP_001369591.2:p.Ala406Thr
NM_001395413.1:c.1216G>A MANE Select	NP_001382342.1:p.Ala406Thr