Canonical Allele Identifier: CA4304033

Gene: POR

Linked Data

• ClinVar Variation Id: 1491334
• ClinVar RCV Id: RCV001986452
• dbSNP Id: rs781842238
• ExAC: 7:75614259 T / G
• gnomAD v2: 7-75614259-T-G
• gnomAD v3: 7-75984941-T-G
• gnomAD v4: 7-75984941-T-G
• MyVariant Identifiers: chr7:g.75614259T>G (hg19) ; chr7:g.75984941T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984941T>G , CM000669.2:g.75984941T>G	GRCh38
NC_000007.13:g.75614259T>G , CM000669.1:g.75614259T>G	GRCh37
NC_000007.12:g.75452195T>G	NCBI36
NG_008930.1:g.74840T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1006T>G	ENSP00000516446.1:p.Ser336Ala
ENST00000706544.1:c.1132T>G	ENSP00000516442.1:p.Ser378Ala
ENST00000706545.1:c.1231T>G	ENSP00000516443.1:p.Ser411Ala
ENST00000706546.1:c.1231T>G	ENSP00000516444.1:p.Ser411Ala
ENST00000706547.1:c.1231T>G	ENSP00000516445.1:p.Ser411Ala
ENST00000461988.6:c.1231T>G MANE Select	ENSP00000419970.1:p.Ser411Ala
ENST00000394893.5:c.1231T>G	ENSP00000378355.1:p.Ser411Ala
ENST00000412064.6:c.*109-1119T>G	ENSP00000404731.2:n.*109-1119T>G
ENST00000439269.1:c.445T>G	ENSP00000412490.1:p.Ser149Ala
ENST00000447222.5:c.1382T>G
ENST00000454934.5:c.*536T>G	ENSP00000414263.1:n.*536T>G
ENST00000461988.5:c.1231T>G	ENSP00000419970.1:p.Ser411Ala
ENST00000487247.5:n.586T>G
ENST00000495770.1:n.233T>G
ENST00000496888.5:n.605T>G
NM_000941.2:c.1231T>G	NP_000932.3:p.Ser411Ala
NM_000941.3:c.1231T>G	NP_000932.3:p.Ser411Ala
NM_001367562.1:c.1231T>G	NP_001354491.1:p.Ser411Ala
NM_001382655.1:c.1285T>G	NP_001369584.1:p.Ser429Ala
NM_001382657.1:c.1231T>G	NP_001369586.1:p.Ser411Ala
NM_001382658.1:c.1231T>G	NP_001369587.1:p.Ser411Ala
NM_001382659.1:c.1231T>G	NP_001369588.1:p.Ser411Ala
NM_001382662.1:c.1231T>G	NP_001369591.1:p.Ser411Ala
NM_001367562.3:c.1222T>G	NP_001354491.2:p.Ser408Ala
NM_001382655.3:c.1276T>G	NP_001369584.2:p.Ser426Ala
NM_001382657.2:c.1222T>G	NP_001369586.2:p.Ser408Ala
NM_001382658.3:c.1222T>G	NP_001369587.2:p.Ser408Ala
NM_001382659.3:c.1222T>G	NP_001369588.2:p.Ser408Ala
NM_001382662.3:c.1222T>G	NP_001369591.2:p.Ser408Ala
NM_001395413.1:c.1222T>G MANE Select	NP_001382342.1:p.Ser408Ala