Canonical Allele Identifier: CA367749326

Gene: POR

Linked Data

• MyVariant Identifiers: chr7:g.75614167T>A (hg19) ; chr7:g.75984849T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984849T>A , CM000669.2:g.75984849T>A	GRCh38
NC_000007.13:g.75614167T>A , CM000669.1:g.75614167T>A	GRCh37
NC_000007.12:g.75452103T>A	NCBI36
NG_008930.1:g.74748T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.914T>A	ENSP00000516446.1:p.Ile305Asn
ENST00000706544.1:c.1040T>A	ENSP00000516442.1:p.Ile347Asn
ENST00000706545.1:c.1139T>A	ENSP00000516443.1:p.Ile380Asn
ENST00000706546.1:c.1139T>A	ENSP00000516444.1:p.Ile380Asn
ENST00000706547.1:c.1139T>A	ENSP00000516445.1:p.Ile380Asn
ENST00000461988.6:c.1139T>A MANE Select	ENSP00000419970.1:p.Ile380Asn
ENST00000394893.5:c.1139T>A	ENSP00000378355.1:p.Ile380Asn
ENST00000412064.6:c.*109-1211T>A	ENSP00000404731.2:n.*109-1211T>A
ENST00000439269.1:c.353T>A	ENSP00000412490.1:p.Ile118Asn
ENST00000447222.5:c.1290T>A
ENST00000454934.5:c.*444T>A	ENSP00000414263.1:n.*444T>A
ENST00000461988.5:c.1139T>A	ENSP00000419970.1:p.Ile380Asn
ENST00000487247.5:n.494T>A
ENST00000495770.1:n.141T>A
ENST00000496888.5:n.513T>A
NM_000941.2:c.1139T>A	NP_000932.3:p.Ile380Asn
NM_000941.3:c.1139T>A	NP_000932.3:p.Ile380Asn
NM_001367562.1:c.1139T>A	NP_001354491.1:p.Ile380Asn
NM_001382655.1:c.1193T>A	NP_001369584.1:p.Ile398Asn
NM_001382657.1:c.1139T>A	NP_001369586.1:p.Ile380Asn
NM_001382658.1:c.1139T>A	NP_001369587.1:p.Ile380Asn
NM_001382659.1:c.1139T>A	NP_001369588.1:p.Ile380Asn
NM_001382662.1:c.1139T>A	NP_001369591.1:p.Ile380Asn
NM_001367562.3:c.1130T>A	NP_001354491.2:p.Ile377Asn
NM_001382655.3:c.1184T>A	NP_001369584.2:p.Ile395Asn
NM_001382657.2:c.1130T>A	NP_001369586.2:p.Ile377Asn
NM_001382658.3:c.1130T>A	NP_001369587.2:p.Ile377Asn
NM_001382659.3:c.1130T>A	NP_001369588.2:p.Ile377Asn
NM_001382662.3:c.1130T>A	NP_001369591.2:p.Ile377Asn
NM_001395413.1:c.1130T>A MANE Select	NP_001382342.1:p.Ile377Asn