Canonical Allele Identifier: CA4303627

Gene: POR

Linked Data

• ClinVar Variation Id: 256842
• ClinVar RCV Id: RCV000248116 ; RCV000363541 ; RCV001292544 ; RCV001610588 ; RCV001789276
• dbSNP Id: rs1135612
• ExAC: 7:75609677 A / G
• gnomAD v2: 7-75609677-A-G
• gnomAD v3: 7-75980359-A-G
• gnomAD v4: 7-75980359-A-G
• MyVariant Identifiers: chr7:g.75609677A>G (hg19) ; chr7:g.75980359A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75980359A>G , CM000669.2:g.75980359A>G	GRCh38
NC_000007.13:g.75609677A>G , CM000669.1:g.75609677A>G	GRCh37
NC_000007.12:g.75447613A>G	NCBI36
NG_008930.1:g.70258A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.162A>G	ENSP00000516446.1:p.Pro54=
ENST00000706544.1:c.387A>G	ENSP00000516442.1:p.Pro129=
ENST00000706545.1:c.387A>G	ENSP00000516443.1:p.Pro129=
ENST00000706546.1:c.387A>G	ENSP00000516444.1:p.Pro129=
ENST00000706547.1:c.387A>G	ENSP00000516445.1:p.Pro129=
ENST00000461988.6:c.387A>G MANE Select	ENSP00000419970.1:p.Pro129=
ENST00000394893.5:c.387A>G	ENSP00000378355.1:p.Pro129=
ENST00000412064.6:c.387A>G	ENSP00000404731.2:p.Pro129=
ENST00000412521.5:c.387A>G	ENSP00000409238.1:p.Pro129=
ENST00000414186.5:c.387A>G	ENSP00000399327.1:p.Pro129=
ENST00000426184.1:c.246A>G	ENSP00000400964.1:p.Pro82=
ENST00000432753.5:c.387A>G	ENSP00000389409.1:p.Pro129=
ENST00000439963.5:c.387A>G	ENSP00000390540.1:p.Pro129=
ENST00000447222.5:c.304A>G
ENST00000448410.5:c.*384A>G	ENSP00000399409.1:n.*384A>G
ENST00000453773.5:c.387A>G	ENSP00000395813.1:p.Pro129=
ENST00000454934.5:c.387A>G	ENSP00000414263.1:p.Pro129=
ENST00000461988.5:c.387A>G	ENSP00000419970.1:p.Pro129=
ENST00000475509.1:n.589A>G
NM_000941.2:c.387A>G	NP_000932.3:p.Pro129=
NM_000941.3:c.387A>G	NP_000932.3:p.Pro129=
NM_001367562.1:c.387A>G	NP_001354491.1:p.Pro129=
NM_001382655.1:c.441A>G	NP_001369584.1:p.Pro147=
NM_001382657.1:c.387A>G	NP_001369586.1:p.Pro129=
NM_001382658.1:c.387A>G	NP_001369587.1:p.Pro129=
NM_001382659.1:c.387A>G	NP_001369588.1:p.Pro129=
NM_001382662.1:c.387A>G	NP_001369591.1:p.Pro129=
NM_001367562.3:c.378A>G	NP_001354491.2:p.Pro126=
NM_001382655.3:c.432A>G	NP_001369584.2:p.Pro144=
NM_001382657.2:c.378A>G	NP_001369586.2:p.Pro126=
NM_001382658.3:c.378A>G	NP_001369587.2:p.Pro126=
NM_001382659.3:c.378A>G	NP_001369588.2:p.Pro126=
NM_001382662.3:c.378A>G	NP_001369591.2:p.Pro126=
NM_001395413.1:c.378A>G MANE Select	NP_001382342.1:p.Pro126=