Canonical Allele Identifier: CA4304250

Gene: POR

Linked Data

• dbSNP Id: rs782484111
• ExAC: 7:75615266 G / C
• gnomAD v2: 7-75615266-G-C
• gnomAD v4: 7-75985948-G-C
• MyVariant Identifiers: chr7:g.75615266G>C (hg19) ; chr7:g.75985948G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985948G>C , CM000669.2:g.75985948G>C	GRCh38
NC_000007.13:g.75615266G>C , CM000669.1:g.75615266G>C	GRCh37
NC_000007.12:g.75453202G>C	NCBI36
NG_008930.1:g.75847G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1470G>C	ENSP00000516446.1:p.Leu490=
ENST00000706544.1:c.1596G>C	ENSP00000516442.1:p.Leu532=
ENST00000706545.1:c.1695G>C	ENSP00000516443.1:p.Leu565=
ENST00000706546.1:c.1695G>C	ENSP00000516444.1:p.Leu565=
ENST00000706547.1:c.1695G>C	ENSP00000516445.1:p.Leu565=
ENST00000461988.6:c.1695G>C MANE Select	ENSP00000419970.1:p.Leu565=
ENST00000394893.5:c.1695G>C	ENSP00000378355.1:p.Leu565=
ENST00000412064.6:c.*109-112G>C	ENSP00000404731.2:n.*109-112G>C
ENST00000439269.1:c.909G>C	ENSP00000412490.1:p.Leu303=
ENST00000447222.5:c.1846G>C
ENST00000454934.5:c.*1000G>C	ENSP00000414263.1:n.*1000G>C
ENST00000461988.5:c.1695G>C	ENSP00000419970.1:p.Leu565=
ENST00000493973.1:n.306G>C
NM_000941.2:c.1695G>C	NP_000932.3:p.Leu565=
NM_000941.3:c.1695G>C	NP_000932.3:p.Leu565=
NM_001367562.1:c.1695G>C	NP_001354491.1:p.Leu565=
NM_001382655.1:c.1749G>C	NP_001369584.1:p.Leu583=
NM_001382657.1:c.1695G>C	NP_001369586.1:p.Leu565=
NM_001382658.1:c.1695G>C	NP_001369587.1:p.Leu565=
NM_001382659.1:c.1695G>C	NP_001369588.1:p.Leu565=
NM_001382662.1:c.1545G>C	NP_001369591.1:p.Leu515=
NM_001367562.3:c.1686G>C	NP_001354491.2:p.Leu562=
NM_001382655.3:c.1740G>C	NP_001369584.2:p.Leu580=
NM_001382657.2:c.1686G>C	NP_001369586.2:p.Leu562=
NM_001382658.3:c.1686G>C	NP_001369587.2:p.Leu562=
NM_001382659.3:c.1686G>C	NP_001369588.2:p.Leu562=
NM_001382662.3:c.1536G>C	NP_001369591.2:p.Leu512=
NM_001395413.1:c.1686G>C MANE Select	NP_001382342.1:p.Leu562=