Canonical Allele Identifier: CA367750373

Gene: POR

Linked Data

• MyVariant Identifiers: chr7:g.75615145G>C (hg19) ; chr7:g.75985827G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985827G>C , CM000669.2:g.75985827G>C	GRCh38
NC_000007.13:g.75615145G>C , CM000669.1:g.75615145G>C	GRCh37
NC_000007.12:g.75453081G>C	NCBI36
NG_008930.1:g.75726G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1422G>C	ENSP00000516446.1:p.Glu474Asp
ENST00000706544.1:c.1548G>C	ENSP00000516442.1:p.Glu516Asp
ENST00000706545.1:c.1647G>C	ENSP00000516443.1:p.Glu549Asp
ENST00000706546.1:c.1647G>C	ENSP00000516444.1:p.Glu549Asp
ENST00000706547.1:c.1647G>C	ENSP00000516445.1:p.Glu549Asp
ENST00000461988.6:c.1647G>C MANE Select	ENSP00000419970.1:p.Glu549Asp
ENST00000394893.5:c.1647G>C	ENSP00000378355.1:p.Glu549Asp
ENST00000412064.6:c.*109-233G>C	ENSP00000404731.2:n.*109-233G>C
ENST00000439269.1:c.861G>C	ENSP00000412490.1:p.Glu287Asp
ENST00000447222.5:c.1798G>C
ENST00000454934.5:c.*952G>C	ENSP00000414263.1:n.*952G>C
ENST00000461988.5:c.1647G>C	ENSP00000419970.1:p.Glu549Asp
ENST00000493973.1:n.258G>C
NM_000941.2:c.1647G>C	NP_000932.3:p.Glu549Asp
NM_000941.3:c.1647G>C	NP_000932.3:p.Glu549Asp
NM_001367562.1:c.1647G>C	NP_001354491.1:p.Glu549Asp
NM_001382655.1:c.1701G>C	NP_001369584.1:p.Glu567Asp
NM_001382657.1:c.1647G>C	NP_001369586.1:p.Glu549Asp
NM_001382658.1:c.1647G>C	NP_001369587.1:p.Glu549Asp
NM_001382659.1:c.1647G>C	NP_001369588.1:p.Glu549Asp
NM_001382662.1:c.1497G>C	NP_001369591.1:p.Glu499Asp
NM_001367562.3:c.1638G>C	NP_001354491.2:p.Glu546Asp
NM_001382655.3:c.1692G>C	NP_001369584.2:p.Glu564Asp
NM_001382657.2:c.1638G>C	NP_001369586.2:p.Glu546Asp
NM_001382658.3:c.1638G>C	NP_001369587.2:p.Glu546Asp
NM_001382659.3:c.1638G>C	NP_001369588.2:p.Glu546Asp
NM_001382662.3:c.1488G>C	NP_001369591.2:p.Glu496Asp
NM_001395413.1:c.1638G>C MANE Select	NP_001382342.1:p.Glu546Asp