Canonical Allele Identifier: CA367750481

Gene: POR

Linked Data

• MyVariant Identifiers: chr7:g.75615267T>C (hg19) ; chr7:g.75985949T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985949T>C , CM000669.2:g.75985949T>C	GRCh38
NC_000007.13:g.75615267T>C , CM000669.1:g.75615267T>C	GRCh37
NC_000007.12:g.75453203T>C	NCBI36
NG_008930.1:g.75848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1471T>C	ENSP00000516446.1:p.Tyr491His
ENST00000706544.1:c.1597T>C	ENSP00000516442.1:p.Tyr533His
ENST00000706545.1:c.1696T>C	ENSP00000516443.1:p.Tyr566His
ENST00000706546.1:c.1696T>C	ENSP00000516444.1:p.Tyr566His
ENST00000706547.1:c.1696T>C	ENSP00000516445.1:p.Tyr566His
ENST00000461988.6:c.1696T>C MANE Select	ENSP00000419970.1:p.Tyr566His
ENST00000394893.5:c.1696T>C	ENSP00000378355.1:p.Tyr566His
ENST00000412064.6:c.*109-111T>C	ENSP00000404731.2:n.*109-111T>C
ENST00000439269.1:c.910T>C	ENSP00000412490.1:p.Tyr304His
ENST00000447222.5:c.1847T>C
ENST00000454934.5:c.*1001T>C	ENSP00000414263.1:n.*1001T>C
ENST00000461988.5:c.1696T>C	ENSP00000419970.1:p.Tyr566His
ENST00000493973.1:n.307T>C
NM_000941.2:c.1696T>C	NP_000932.3:p.Tyr566His
NM_000941.3:c.1696T>C	NP_000932.3:p.Tyr566His
NM_001367562.1:c.1696T>C	NP_001354491.1:p.Tyr566His
NM_001382655.1:c.1750T>C	NP_001369584.1:p.Tyr584His
NM_001382657.1:c.1696T>C	NP_001369586.1:p.Tyr566His
NM_001382658.1:c.1696T>C	NP_001369587.1:p.Tyr566His
NM_001382659.1:c.1696T>C	NP_001369588.1:p.Tyr566His
NM_001382662.1:c.1546T>C	NP_001369591.1:p.Tyr516His
NM_001367562.3:c.1687T>C	NP_001354491.2:p.Tyr563His
NM_001382655.3:c.1741T>C	NP_001369584.2:p.Tyr581His
NM_001382657.2:c.1687T>C	NP_001369586.2:p.Tyr563His
NM_001382658.3:c.1687T>C	NP_001369587.2:p.Tyr563His
NM_001382659.3:c.1687T>C	NP_001369588.2:p.Tyr563His
NM_001382662.3:c.1537T>C	NP_001369591.2:p.Tyr513His
NM_001395413.1:c.1687T>C MANE Select	NP_001382342.1:p.Tyr563His