Canonical Allele Identifier: CA367749255

Gene: POR

Linked Data

• dbSNP Id: rs1355670653
• gnomAD v2: 7-75614130-A-C
• MyVariant Identifiers: chr7:g.75614130A>C (hg19) ; chr7:g.75984812A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984812A>C , CM000669.2:g.75984812A>C	GRCh38
NC_000007.13:g.75614130A>C , CM000669.1:g.75614130A>C	GRCh37
NC_000007.12:g.75452066A>C	NCBI36
NG_008930.1:g.74711A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.877A>C	ENSP00000516446.1:p.Thr293Pro
ENST00000706544.1:c.1003A>C	ENSP00000516442.1:p.Thr335Pro
ENST00000706545.1:c.1102A>C	ENSP00000516443.1:p.Thr368Pro
ENST00000706546.1:c.1102A>C	ENSP00000516444.1:p.Thr368Pro
ENST00000706547.1:c.1102A>C	ENSP00000516445.1:p.Thr368Pro
ENST00000461988.6:c.1102A>C MANE Select	ENSP00000419970.1:p.Thr368Pro
ENST00000394893.5:c.1102A>C	ENSP00000378355.1:p.Thr368Pro
ENST00000412064.6:c.*108+1176A>C	ENSP00000404731.2:n.*108+1176A>C
ENST00000439269.1:c.316A>C	ENSP00000412490.1:p.Thr106Pro
ENST00000447222.5:c.1253A>C
ENST00000454934.5:c.*407A>C	ENSP00000414263.1:n.*407A>C
ENST00000461988.5:c.1102A>C	ENSP00000419970.1:p.Thr368Pro
ENST00000487247.5:n.457A>C
ENST00000495770.1:n.104A>C
ENST00000496888.5:n.476A>C
NM_000941.2:c.1102A>C	NP_000932.3:p.Thr368Pro
NM_000941.3:c.1102A>C	NP_000932.3:p.Thr368Pro
NM_001367562.1:c.1102A>C	NP_001354491.1:p.Thr368Pro
NM_001382655.1:c.1156A>C	NP_001369584.1:p.Thr386Pro
NM_001382657.1:c.1102A>C	NP_001369586.1:p.Thr368Pro
NM_001382658.1:c.1102A>C	NP_001369587.1:p.Thr368Pro
NM_001382659.1:c.1102A>C	NP_001369588.1:p.Thr368Pro
NM_001382662.1:c.1102A>C	NP_001369591.1:p.Thr368Pro
NM_001367562.3:c.1093A>C	NP_001354491.2:p.Thr365Pro
NM_001382655.3:c.1147A>C	NP_001369584.2:p.Thr383Pro
NM_001382657.2:c.1093A>C	NP_001369586.2:p.Thr365Pro
NM_001382658.3:c.1093A>C	NP_001369587.2:p.Thr365Pro
NM_001382659.3:c.1093A>C	NP_001369588.2:p.Thr365Pro
NM_001382662.3:c.1093A>C	NP_001369591.2:p.Thr365Pro
NM_001395413.1:c.1093A>C MANE Select	NP_001382342.1:p.Thr365Pro