Canonical Allele Identifier: CA2548957082

Gene: POR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75978229T>C , CM000669.2:g.75978229T>C	GRCh38
NC_000007.13:g.75607547T>C , CM000669.1:g.75607547T>C	GRCh37
NC_000007.12:g.75445483T>C	NCBI36
NG_008930.1:g.68128T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475509.2:c.13-1222T>C	ENSP00000516446.1:n.13-1222T>C
ENST00000706544.1:c.238-1222T>C	ENSP00000516442.1:n.238-1222T>C
ENST00000706545.1:c.238-1222T>C	ENSP00000516443.1:n.238-1222T>C
ENST00000706546.1:c.238-1222T>C	ENSP00000516444.1:n.238-1222T>C
ENST00000706547.1:c.238-1222T>C	ENSP00000516445.1:n.238-1222T>C
ENST00000461988.6:c.238-1222T>C MANE Select	ENSP00000419970.1:n.238-1222T>C
ENST00000394893.5:c.238-1222T>C	ENSP00000378355.1:n.238-1222T>C
ENST00000412064.6:c.238-1222T>C	ENSP00000404731.2:n.238-1222T>C
ENST00000412521.5:c.238-1222T>C	ENSP00000409238.1:n.238-1222T>C
ENST00000414186.5:c.238-1222T>C	ENSP00000399327.1:n.238-1222T>C
ENST00000426184.1:c.97-1222T>C	ENSP00000400964.1:n.97-1222T>C
ENST00000432753.5:c.238-1222T>C	ENSP00000389409.1:n.238-1222T>C
ENST00000439297.1:c.77-1222T>C	ENSP00000403494.1:n.77-1222T>C
ENST00000439963.5:c.238-1222T>C	ENSP00000390540.1:n.238-1222T>C
ENST00000447222.5:c.155-1222T>C
ENST00000448410.5:c.*235-1222T>C	ENSP00000399409.1:n.*235-1222T>C
ENST00000453773.5:c.238-1222T>C	ENSP00000395813.1:n.238-1222T>C
ENST00000454934.5:c.238-1222T>C	ENSP00000414263.1:n.238-1222T>C
ENST00000461988.5:c.238-1222T>C	ENSP00000419970.1:n.238-1222T>C
ENST00000471238.5:n.265-1222T>C
ENST00000475509.1:n.440-1222T>C
NM_000941.2:c.238-1222T>C	NP_000932.3:n.238-1222T>C
NM_000941.3:c.238-1222T>C	NP_000932.3:n.238-1222T>C
NM_001367562.1:c.238-1222T>C	NP_001354491.1:n.238-1222T>C
NM_001382655.1:c.292-1222T>C	NP_001369584.1:n.292-1222T>C
NM_001382657.1:c.238-1222T>C	NP_001369586.1:n.238-1222T>C
NM_001382658.1:c.238-1222T>C	NP_001369587.1:n.238-1222T>C
NM_001382659.1:c.238-1222T>C	NP_001369588.1:n.238-1222T>C
NM_001382662.1:c.238-1222T>C	NP_001369591.1:n.238-1222T>C
NM_001367562.3:c.229-1222T>C	NP_001354491.2:n.229-1222T>C
NM_001382655.3:c.283-1222T>C	NP_001369584.2:n.283-1222T>C
NM_001382657.2:c.229-1222T>C	NP_001369586.2:n.229-1222T>C
NM_001382658.3:c.229-1222T>C	NP_001369587.2:n.229-1222T>C
NM_001382659.3:c.229-1222T>C	NP_001369588.2:n.229-1222T>C
NM_001382662.3:c.229-1222T>C	NP_001369591.2:n.229-1222T>C
NM_001395413.1:c.229-1222T>C MANE Select	NP_001382342.1:n.229-1222T>C