Canonical Allele Identifier: CA4304006

Gene: POR

Linked Data

• dbSNP Id: rs782695694
• ExAC: 7:75614191 T / C
• gnomAD v2: 7-75614191-T-C
• MyVariant Identifiers: chr7:g.75614191T>C (hg19) ; chr7:g.75984873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984873T>C , CM000669.2:g.75984873T>C	GRCh38
NC_000007.13:g.75614191T>C , CM000669.1:g.75614191T>C	GRCh37
NC_000007.12:g.75452127T>C	NCBI36
NG_008930.1:g.74772T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.938T>C	ENSP00000516446.1:p.Val313Ala
ENST00000706544.1:c.1064T>C	ENSP00000516442.1:p.Val355Ala
ENST00000706545.1:c.1163T>C	ENSP00000516443.1:p.Val388Ala
ENST00000706546.1:c.1163T>C	ENSP00000516444.1:p.Val388Ala
ENST00000706547.1:c.1163T>C	ENSP00000516445.1:p.Val388Ala
ENST00000461988.6:c.1163T>C MANE Select	ENSP00000419970.1:p.Val388Ala
ENST00000394893.5:c.1163T>C	ENSP00000378355.1:p.Val388Ala
ENST00000412064.6:c.*109-1187T>C	ENSP00000404731.2:n.*109-1187T>C
ENST00000439269.1:c.377T>C	ENSP00000412490.1:p.Val126Ala
ENST00000447222.5:c.1314T>C
ENST00000454934.5:c.*468T>C	ENSP00000414263.1:n.*468T>C
ENST00000461988.5:c.1163T>C	ENSP00000419970.1:p.Val388Ala
ENST00000487247.5:n.518T>C
ENST00000495770.1:n.165T>C
ENST00000496888.5:n.537T>C
NM_000941.2:c.1163T>C	NP_000932.3:p.Val388Ala
NM_000941.3:c.1163T>C	NP_000932.3:p.Val388Ala
NM_001367562.1:c.1163T>C	NP_001354491.1:p.Val388Ala
NM_001382655.1:c.1217T>C	NP_001369584.1:p.Val406Ala
NM_001382657.1:c.1163T>C	NP_001369586.1:p.Val388Ala
NM_001382658.1:c.1163T>C	NP_001369587.1:p.Val388Ala
NM_001382659.1:c.1163T>C	NP_001369588.1:p.Val388Ala
NM_001382662.1:c.1163T>C	NP_001369591.1:p.Val388Ala
NM_001367562.3:c.1154T>C	NP_001354491.2:p.Val385Ala
NM_001382655.3:c.1208T>C	NP_001369584.2:p.Val403Ala
NM_001382657.2:c.1154T>C	NP_001369586.2:p.Val385Ala
NM_001382658.3:c.1154T>C	NP_001369587.2:p.Val385Ala
NM_001382659.3:c.1154T>C	NP_001369588.2:p.Val385Ala
NM_001382662.3:c.1154T>C	NP_001369591.2:p.Val385Ala
NM_001395413.1:c.1154T>C MANE Select	NP_001382342.1:p.Val385Ala