Canonical Allele Identifier: CA4304209

Gene: POR

Linked Data

• dbSNP Id: rs782497209
• ExAC: 7:75615119 G / A
• gnomAD v2: 7-75615119-G-A
• gnomAD v4: 7-75985801-G-A
• MyVariant Identifiers: chr7:g.75615119G>A (hg19) ; chr7:g.75985801G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985801G>A , CM000669.2:g.75985801G>A	GRCh38
NC_000007.13:g.75615119G>A , CM000669.1:g.75615119G>A	GRCh37
NC_000007.12:g.75453055G>A	NCBI36
NG_008930.1:g.75700G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1396G>A	ENSP00000516446.1:p.Ala466Thr
ENST00000706544.1:c.1522G>A	ENSP00000516442.1:p.Ala508Thr
ENST00000706545.1:c.1621G>A	ENSP00000516443.1:p.Ala541Thr
ENST00000706546.1:c.1621G>A	ENSP00000516444.1:p.Ala541Thr
ENST00000706547.1:c.1621G>A	ENSP00000516445.1:p.Ala541Thr
ENST00000461988.6:c.1621G>A MANE Select	ENSP00000419970.1:p.Ala541Thr
ENST00000394893.5:c.1621G>A	ENSP00000378355.1:p.Ala541Thr
ENST00000412064.6:c.*109-259G>A	ENSP00000404731.2:n.*109-259G>A
ENST00000439269.1:c.835G>A	ENSP00000412490.1:p.Ala279Thr
ENST00000447222.5:c.1772G>A
ENST00000454934.5:c.*926G>A	ENSP00000414263.1:n.*926G>A
ENST00000461988.5:c.1621G>A	ENSP00000419970.1:p.Ala541Thr
ENST00000493973.1:n.232G>A
NM_000941.2:c.1621G>A	NP_000932.3:p.Ala541Thr
NM_000941.3:c.1621G>A	NP_000932.3:p.Ala541Thr
NM_001367562.1:c.1621G>A	NP_001354491.1:p.Ala541Thr
NM_001382655.1:c.1675G>A	NP_001369584.1:p.Ala559Thr
NM_001382657.1:c.1621G>A	NP_001369586.1:p.Ala541Thr
NM_001382658.1:c.1621G>A	NP_001369587.1:p.Ala541Thr
NM_001382659.1:c.1621G>A	NP_001369588.1:p.Ala541Thr
NM_001382662.1:c.1471G>A	NP_001369591.1:p.Ala491Thr
NM_001367562.3:c.1612G>A	NP_001354491.2:p.Ala538Thr
NM_001382655.3:c.1666G>A	NP_001369584.2:p.Ala556Thr
NM_001382657.2:c.1612G>A	NP_001369586.2:p.Ala538Thr
NM_001382658.3:c.1612G>A	NP_001369587.2:p.Ala538Thr
NM_001382659.3:c.1612G>A	NP_001369588.2:p.Ala538Thr
NM_001382662.3:c.1462G>A	NP_001369591.2:p.Ala488Thr
NM_001395413.1:c.1612G>A MANE Select	NP_001382342.1:p.Ala538Thr