Canonical Allele Identifier: CA367750717

Gene: POR

Linked Data

• gnomAD v4: 7-75986061-C-G
• MyVariant Identifiers: chr7:g.75615379C>G (hg19) ; chr7:g.75986061C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75986061C>G , CM000669.2:g.75986061C>G	GRCh38
NC_000007.13:g.75615379C>G , CM000669.1:g.75615379C>G	GRCh37
NC_000007.12:g.75453315C>G	NCBI36
NG_008930.1:g.75960C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1583C>G	ENSP00000516446.1:p.Ser528Cys
ENST00000706544.1:c.1709C>G	ENSP00000516442.1:p.Ser570Cys
ENST00000706545.1:c.1808C>G	ENSP00000516443.1:p.Ser603Cys
ENST00000706546.1:c.1808C>G	ENSP00000516444.1:p.Ser603Cys
ENST00000706547.1:c.1808C>G	ENSP00000516445.1:p.Ser603Cys
ENST00000461988.6:c.1808C>G MANE Select	ENSP00000419970.1:p.Ser603Cys
ENST00000394893.5:c.1808C>G	ENSP00000378355.1:p.Ser603Cys
ENST00000412064.6:c.*110C>G	ENSP00000404731.2:n.*110C>G
ENST00000439269.1:c.1022C>G	ENSP00000412490.1:p.Ser341Cys
ENST00000447222.5:c.1959C>G
ENST00000454934.5:c.*1113C>G	ENSP00000414263.1:n.*1113C>G
ENST00000461988.5:c.1808C>G	ENSP00000419970.1:p.Ser603Cys
ENST00000493973.1:n.419C>G
NM_000941.2:c.1808C>G	NP_000932.3:p.Ser603Cys
NM_000941.3:c.1808C>G	NP_000932.3:p.Ser603Cys
NM_001367562.1:c.1808C>G	NP_001354491.1:p.Ser603Cys
NM_001382655.1:c.1862C>G	NP_001369584.1:p.Ser621Cys
NM_001382657.1:c.1808C>G	NP_001369586.1:p.Ser603Cys
NM_001382658.1:c.1808C>G	NP_001369587.1:p.Ser603Cys
NM_001382659.1:c.1808C>G	NP_001369588.1:p.Ser603Cys
NM_001382662.1:c.1658C>G	NP_001369591.1:p.Ser553Cys
NM_001367562.3:c.1799C>G	NP_001354491.2:p.Ser600Cys
NM_001382655.3:c.1853C>G	NP_001369584.2:p.Ser618Cys
NM_001382657.2:c.1799C>G	NP_001369586.2:p.Ser600Cys
NM_001382658.3:c.1799C>G	NP_001369587.2:p.Ser600Cys
NM_001382659.3:c.1799C>G	NP_001369588.2:p.Ser600Cys
NM_001382662.3:c.1649C>G	NP_001369591.2:p.Ser550Cys
NM_001395413.1:c.1799C>G MANE Select	NP_001382342.1:p.Ser600Cys