Canonical Allele Identifier: CA367750579

Gene: POR

Linked Data

• dbSNP Id: rs1359860858
• gnomAD v4: 7-75985996-G-T
• MyVariant Identifiers: chr7:g.75615314G>T (hg19) ; chr7:g.75985996G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985996G>T , CM000669.2:g.75985996G>T	GRCh38
NC_000007.13:g.75615314G>T , CM000669.1:g.75615314G>T	GRCh37
NC_000007.12:g.75453250G>T	NCBI36
NG_008930.1:g.75895G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475509.2:c.1518G>T	ENSP00000516446.1:p.Glu506Asp
ENST00000706544.1:c.1644G>T	ENSP00000516442.1:p.Glu548Asp
ENST00000706545.1:c.1743G>T	ENSP00000516443.1:p.Glu581Asp
ENST00000706546.1:c.1743G>T	ENSP00000516444.1:p.Glu581Asp
ENST00000706547.1:c.1743G>T	ENSP00000516445.1:p.Glu581Asp
ENST00000461988.6:c.1743G>T MANE Select	ENSP00000419970.1:p.Glu581Asp
ENST00000394893.5:c.1743G>T	ENSP00000378355.1:p.Glu581Asp
ENST00000412064.6:c.*109-64G>T	ENSP00000404731.2:n.*109-64G>T
ENST00000439269.1:c.957G>T	ENSP00000412490.1:p.Glu319Asp
ENST00000447222.5:c.1894G>T
ENST00000454934.5:c.*1048G>T	ENSP00000414263.1:n.*1048G>T
ENST00000461988.5:c.1743G>T	ENSP00000419970.1:p.Glu581Asp
ENST00000493973.1:n.354G>T
NM_000941.2:c.1743G>T	NP_000932.3:p.Glu581Asp
NM_000941.3:c.1743G>T	NP_000932.3:p.Glu581Asp
NM_001367562.1:c.1743G>T	NP_001354491.1:p.Glu581Asp
NM_001382655.1:c.1797G>T	NP_001369584.1:p.Glu599Asp
NM_001382657.1:c.1743G>T	NP_001369586.1:p.Glu581Asp
NM_001382658.1:c.1743G>T	NP_001369587.1:p.Glu581Asp
NM_001382659.1:c.1743G>T	NP_001369588.1:p.Glu581Asp
NM_001382662.1:c.1593G>T	NP_001369591.1:p.Glu531Asp
NM_001367562.3:c.1734G>T	NP_001354491.2:p.Glu578Asp
NM_001382655.3:c.1788G>T	NP_001369584.2:p.Glu596Asp
NM_001382657.2:c.1734G>T	NP_001369586.2:p.Glu578Asp
NM_001382658.3:c.1734G>T	NP_001369587.2:p.Glu578Asp
NM_001382659.3:c.1734G>T	NP_001369588.2:p.Glu578Asp
NM_001382662.3:c.1584G>T	NP_001369591.2:p.Glu528Asp
NM_001395413.1:c.1734G>T MANE Select	NP_001382342.1:p.Glu578Asp