Canonical Allele Identifier: CA1718179749

Gene: POR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984832C= , CM000669.2:g.75984832C=	GRCh38
NC_000007.13:g.75614150C= , CM000669.1:g.75614150C=	GRCh37
NC_000007.12:g.75452086C=	NCBI36
NG_008930.1:g.74731C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.897C=	ENSP00000516446.1:p.Leu299=
ENST00000706544.1:c.1023C=	ENSP00000516442.1:p.Leu341=
ENST00000706545.1:c.1122C=	ENSP00000516443.1:p.Leu374=
ENST00000706546.1:c.1122C=	ENSP00000516444.1:p.Leu374=
ENST00000706547.1:c.1122C=	ENSP00000516445.1:p.Leu374=
ENST00000461988.6:c.1122C= MANE Select	ENSP00000419970.1:p.Leu374=
ENST00000394893.5:c.1122C=	ENSP00000378355.1:p.Leu374=
ENST00000412064.6:c.*108+1196C=	ENSP00000404731.2:n.*108+1196C=
ENST00000439269.1:c.336C=	ENSP00000412490.1:p.Leu112=
ENST00000447222.5:c.1273C=
ENST00000454934.5:c.*427C=	ENSP00000414263.1:n.*427C=
ENST00000461988.5:c.1122C=	ENSP00000419970.1:p.Leu374=
ENST00000487247.5:n.477C=
ENST00000495770.1:n.124C=
ENST00000496888.5:n.496C=
NM_000941.2:c.1122C=	NP_000932.3:p.Leu374=
NM_000941.3:c.1122C=	NP_000932.3:p.Leu374=
NM_001367562.1:c.1122C=	NP_001354491.1:p.Leu374=
NM_001382655.1:c.1176C=	NP_001369584.1:p.Leu392=
NM_001382657.1:c.1122C=	NP_001369586.1:p.Leu374=
NM_001382658.1:c.1122C=	NP_001369587.1:p.Leu374=
NM_001382659.1:c.1122C=	NP_001369588.1:p.Leu374=
NM_001382662.1:c.1122C=	NP_001369591.1:p.Leu374=
NM_001367562.3:c.1113C=	NP_001354491.2:p.Leu371=
NM_001382655.3:c.1167C=	NP_001369584.2:p.Leu389=
NM_001382657.2:c.1113C=	NP_001369586.2:p.Leu371=
NM_001382658.3:c.1113C=	NP_001369587.2:p.Leu371=
NM_001382659.3:c.1113C=	NP_001369588.2:p.Leu371=
NM_001382662.3:c.1113C=	NP_001369591.2:p.Leu371=
NM_001395413.1:c.1113C= MANE Select	NP_001382342.1:p.Leu371=