Canonical Allele Identifier: CA367750559

Gene: POR

Linked Data

• gnomAD v4: 7-75985986-A-T
• MyVariant Identifiers: chr7:g.75615304A>T (hg19) ; chr7:g.75985986A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985986A>T , CM000669.2:g.75985986A>T	GRCh38
NC_000007.13:g.75615304A>T , CM000669.1:g.75615304A>T	GRCh37
NC_000007.12:g.75453240A>T	NCBI36
NG_008930.1:g.75885A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475509.2:c.1508A>T	ENSP00000516446.1:p.Tyr503Phe
ENST00000706544.1:c.1634A>T	ENSP00000516442.1:p.Tyr545Phe
ENST00000706545.1:c.1733A>T	ENSP00000516443.1:p.Tyr578Phe
ENST00000706546.1:c.1733A>T	ENSP00000516444.1:p.Tyr578Phe
ENST00000706547.1:c.1733A>T	ENSP00000516445.1:p.Tyr578Phe
ENST00000461988.6:c.1733A>T MANE Select	ENSP00000419970.1:p.Tyr578Phe
ENST00000394893.5:c.1733A>T	ENSP00000378355.1:p.Tyr578Phe
ENST00000412064.6:c.*109-74A>T	ENSP00000404731.2:n.*109-74A>T
ENST00000439269.1:c.947A>T	ENSP00000412490.1:p.Tyr316Phe
ENST00000447222.5:c.1884A>T
ENST00000454934.5:c.*1038A>T	ENSP00000414263.1:n.*1038A>T
ENST00000461988.5:c.1733A>T	ENSP00000419970.1:p.Tyr578Phe
ENST00000493973.1:n.344A>T
NM_000941.2:c.1733A>T	NP_000932.3:p.Tyr578Phe
NM_000941.3:c.1733A>T	NP_000932.3:p.Tyr578Phe
NM_001367562.1:c.1733A>T	NP_001354491.1:p.Tyr578Phe
NM_001382655.1:c.1787A>T	NP_001369584.1:p.Tyr596Phe
NM_001382657.1:c.1733A>T	NP_001369586.1:p.Tyr578Phe
NM_001382658.1:c.1733A>T	NP_001369587.1:p.Tyr578Phe
NM_001382659.1:c.1733A>T	NP_001369588.1:p.Tyr578Phe
NM_001382662.1:c.1583A>T	NP_001369591.1:p.Tyr528Phe
NM_001367562.3:c.1724A>T	NP_001354491.2:p.Tyr575Phe
NM_001382655.3:c.1778A>T	NP_001369584.2:p.Tyr593Phe
NM_001382657.2:c.1724A>T	NP_001369586.2:p.Tyr575Phe
NM_001382658.3:c.1724A>T	NP_001369587.2:p.Tyr575Phe
NM_001382659.3:c.1724A>T	NP_001369588.2:p.Tyr575Phe
NM_001382662.3:c.1574A>T	NP_001369591.2:p.Tyr525Phe
NM_001395413.1:c.1724A>T MANE Select	NP_001382342.1:p.Tyr575Phe