Canonical Allele Identifier: CA292898

Gene: POR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985635T>C , CM000669.2:g.75985635T>C	GRCh38
NC_000007.13:g.75614953T>C , CM000669.1:g.75614953T>C	GRCh37
NC_000007.12:g.75452889T>C	NCBI36
NG_008930.1:g.75534T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1230T>C	ENSP00000516446.1:p.Ala410=
ENST00000706544.1:c.1356T>C	ENSP00000516442.1:p.Ala452=
ENST00000706545.1:c.1455T>C	ENSP00000516443.1:p.Ala485=
ENST00000706546.1:c.1455T>C	ENSP00000516444.1:p.Ala485=
ENST00000706547.1:c.1455T>C	ENSP00000516445.1:p.Ala485=
ENST00000461988.6:c.1455T>C MANE Select	ENSP00000419970.1:p.Ala485=
ENST00000394893.5:c.1455T>C	ENSP00000378355.1:p.Ala485=
ENST00000412064.6:c.*109-425T>C	ENSP00000404731.2:n.*109-425T>C
ENST00000439269.1:c.669T>C	ENSP00000412490.1:p.Ala223=
ENST00000447222.5:c.1606T>C
ENST00000454934.5:c.*760T>C	ENSP00000414263.1:n.*760T>C
ENST00000461988.5:c.1455T>C	ENSP00000419970.1:p.Ala485=
ENST00000493973.1:n.66T>C
ENST00000496888.5:n.829T>C
NM_000941.2:c.1455T>C	NP_000932.3:p.Ala485=
NM_000941.3:c.1455T>C	NP_000932.3:p.Ala485=
NM_001367562.1:c.1455T>C	NP_001354491.1:p.Ala485=
NM_001382655.1:c.1509T>C	NP_001369584.1:p.Ala503=
NM_001382657.1:c.1455T>C	NP_001369586.1:p.Ala485=
NM_001382658.1:c.1455T>C	NP_001369587.1:p.Ala485=
NM_001382659.1:c.1455T>C	NP_001369588.1:p.Ala485=
NM_001382662.1:c.1305T>C	NP_001369591.1:p.Ala435=
NM_001367562.3:c.1446T>C	NP_001354491.2:p.Ala482=
NM_001382655.3:c.1500T>C	NP_001369584.2:p.Ala500=
NM_001382657.2:c.1446T>C	NP_001369586.2:p.Ala482=
NM_001382658.3:c.1446T>C	NP_001369587.2:p.Ala482=
NM_001382659.3:c.1446T>C	NP_001369588.2:p.Ala482=
NM_001382662.3:c.1296T>C	NP_001369591.2:p.Ala432=
NM_001395413.1:c.1446T>C MANE Select	NP_001382342.1:p.Ala482=