Canonical Allele Identifier: CA456331215

Gene: POR

Linked Data

• ClinVar Variation Id: 2903563
• ClinVar RCV Id: RCV003632682
• dbSNP Id: rs1554559203
• gnomAD v2: 7-75615160-A-G
• gnomAD v4: 7-75985842-A-G
• MyVariant Identifiers: chr7:g.75615160A>G (hg19) ; chr7:g.75985842A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985842A>G , CM000669.2:g.75985842A>G	GRCh38
NC_000007.13:g.75615160A>G , CM000669.1:g.75615160A>G	GRCh37
NC_000007.12:g.75453096A>G	NCBI36
NG_008930.1:g.75741A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1437A>G	ENSP00000516446.1:p.Arg479=
ENST00000706544.1:c.1563A>G	ENSP00000516442.1:p.Arg521=
ENST00000706545.1:c.1662A>G	ENSP00000516443.1:p.Arg554=
ENST00000706546.1:c.1662A>G	ENSP00000516444.1:p.Arg554=
ENST00000706547.1:c.1662A>G	ENSP00000516445.1:p.Arg554=
ENST00000461988.6:c.1662A>G MANE Select	ENSP00000419970.1:p.Arg554=
ENST00000394893.5:c.1662A>G	ENSP00000378355.1:p.Arg554=
ENST00000412064.6:c.*109-218A>G	ENSP00000404731.2:n.*109-218A>G
ENST00000439269.1:c.876A>G	ENSP00000412490.1:p.Arg292=
ENST00000447222.5:c.1813A>G
ENST00000454934.5:c.*967A>G	ENSP00000414263.1:n.*967A>G
ENST00000461988.5:c.1662A>G	ENSP00000419970.1:p.Arg554=
ENST00000493973.1:n.273A>G
NM_000941.2:c.1662A>G	NP_000932.3:p.Arg554=
NM_000941.3:c.1662A>G	NP_000932.3:p.Arg554=
NM_001367562.1:c.1662A>G	NP_001354491.1:p.Arg554=
NM_001382655.1:c.1716A>G	NP_001369584.1:p.Arg572=
NM_001382657.1:c.1662A>G	NP_001369586.1:p.Arg554=
NM_001382658.1:c.1662A>G	NP_001369587.1:p.Arg554=
NM_001382659.1:c.1662A>G	NP_001369588.1:p.Arg554=
NM_001382662.1:c.1512A>G	NP_001369591.1:p.Arg504=
NM_001367562.3:c.1653A>G	NP_001354491.2:p.Arg551=
NM_001382655.3:c.1707A>G	NP_001369584.2:p.Arg569=
NM_001382657.2:c.1653A>G	NP_001369586.2:p.Arg551=
NM_001382658.3:c.1653A>G	NP_001369587.2:p.Arg551=
NM_001382659.3:c.1653A>G	NP_001369588.2:p.Arg551=
NM_001382662.3:c.1503A>G	NP_001369591.2:p.Arg501=
NM_001395413.1:c.1653A>G MANE Select	NP_001382342.1:p.Arg551=