Canonical Allele Identifier: CA456331398

Gene: POR

Linked Data

• ClinVar Variation Id: 2768254
• ClinVar RCV Id: RCV003517754
• dbSNP Id: rs1554559287
• gnomAD v2: 7-75615305-C-T
• gnomAD v3: 7-75985987-C-T
• gnomAD v4: 7-75985987-C-T
• MyVariant Identifiers: chr7:g.75615305C>T (hg19) ; chr7:g.75985987C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985987C>T , CM000669.2:g.75985987C>T	GRCh38
NC_000007.13:g.75615305C>T , CM000669.1:g.75615305C>T	GRCh37
NC_000007.12:g.75453241C>T	NCBI36
NG_008930.1:g.75886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1509C>T	ENSP00000516446.1:p.Tyr503=
ENST00000706544.1:c.1635C>T	ENSP00000516442.1:p.Tyr545=
ENST00000706545.1:c.1734C>T	ENSP00000516443.1:p.Tyr578=
ENST00000706546.1:c.1734C>T	ENSP00000516444.1:p.Tyr578=
ENST00000706547.1:c.1734C>T	ENSP00000516445.1:p.Tyr578=
ENST00000461988.6:c.1734C>T MANE Select	ENSP00000419970.1:p.Tyr578=
ENST00000394893.5:c.1734C>T	ENSP00000378355.1:p.Tyr578=
ENST00000412064.6:c.*109-73C>T	ENSP00000404731.2:n.*109-73C>T
ENST00000439269.1:c.948C>T	ENSP00000412490.1:p.Tyr316=
ENST00000447222.5:c.1885C>T
ENST00000454934.5:c.*1039C>T	ENSP00000414263.1:n.*1039C>T
ENST00000461988.5:c.1734C>T	ENSP00000419970.1:p.Tyr578=
ENST00000493973.1:n.345C>T
NM_000941.2:c.1734C>T	NP_000932.3:p.Tyr578=
NM_000941.3:c.1734C>T	NP_000932.3:p.Tyr578=
NM_001367562.1:c.1734C>T	NP_001354491.1:p.Tyr578=
NM_001382655.1:c.1788C>T	NP_001369584.1:p.Tyr596=
NM_001382657.1:c.1734C>T	NP_001369586.1:p.Tyr578=
NM_001382658.1:c.1734C>T	NP_001369587.1:p.Tyr578=
NM_001382659.1:c.1734C>T	NP_001369588.1:p.Tyr578=
NM_001382662.1:c.1584C>T	NP_001369591.1:p.Tyr528=
NM_001367562.3:c.1725C>T	NP_001354491.2:p.Tyr575=
NM_001382655.3:c.1779C>T	NP_001369584.2:p.Tyr593=
NM_001382657.2:c.1725C>T	NP_001369586.2:p.Tyr575=
NM_001382658.3:c.1725C>T	NP_001369587.2:p.Tyr575=
NM_001382659.3:c.1725C>T	NP_001369588.2:p.Tyr575=
NM_001382662.3:c.1575C>T	NP_001369591.2:p.Tyr525=
NM_001395413.1:c.1725C>T MANE Select	NP_001382342.1:p.Tyr575=