Canonical Allele Identifier: CA4304266

Gene: POR

Linked Data

• dbSNP Id: rs782357648
• ExAC: 7:75615307 G / C
• gnomAD v2: 7-75615307-G-C
• gnomAD v3: 7-75985989-G-C
• gnomAD v4: 7-75985989-G-C
• MyVariant Identifiers: chr7:g.75615307G>C (hg19) ; chr7:g.75985989G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985989G>C , CM000669.2:g.75985989G>C	GRCh38
NC_000007.13:g.75615307G>C , CM000669.1:g.75615307G>C	GRCh37
NC_000007.12:g.75453243G>C	NCBI36
NG_008930.1:g.75888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1511G>C	ENSP00000516446.1:p.Arg504Pro
ENST00000706544.1:c.1637G>C	ENSP00000516442.1:p.Arg546Pro
ENST00000706545.1:c.1736G>C	ENSP00000516443.1:p.Arg579Pro
ENST00000706546.1:c.1736G>C	ENSP00000516444.1:p.Arg579Pro
ENST00000706547.1:c.1736G>C	ENSP00000516445.1:p.Arg579Pro
ENST00000461988.6:c.1736G>C MANE Select	ENSP00000419970.1:p.Arg579Pro
ENST00000394893.5:c.1736G>C	ENSP00000378355.1:p.Arg579Pro
ENST00000412064.6:c.*109-71G>C	ENSP00000404731.2:n.*109-71G>C
ENST00000439269.1:c.950G>C	ENSP00000412490.1:p.Arg317Pro
ENST00000447222.5:c.1887G>C
ENST00000454934.5:c.*1041G>C	ENSP00000414263.1:n.*1041G>C
ENST00000461988.5:c.1736G>C	ENSP00000419970.1:p.Arg579Pro
ENST00000493973.1:n.347G>C
NM_000941.2:c.1736G>C	NP_000932.3:p.Arg579Pro
NM_000941.3:c.1736G>C	NP_000932.3:p.Arg579Pro
NM_001367562.1:c.1736G>C	NP_001354491.1:p.Arg579Pro
NM_001382655.1:c.1790G>C	NP_001369584.1:p.Arg597Pro
NM_001382657.1:c.1736G>C	NP_001369586.1:p.Arg579Pro
NM_001382658.1:c.1736G>C	NP_001369587.1:p.Arg579Pro
NM_001382659.1:c.1736G>C	NP_001369588.1:p.Arg579Pro
NM_001382662.1:c.1586G>C	NP_001369591.1:p.Arg529Pro
NM_001367562.3:c.1727G>C	NP_001354491.2:p.Arg576Pro
NM_001382655.3:c.1781G>C	NP_001369584.2:p.Arg594Pro
NM_001382657.2:c.1727G>C	NP_001369586.2:p.Arg576Pro
NM_001382658.3:c.1727G>C	NP_001369587.2:p.Arg576Pro
NM_001382659.3:c.1727G>C	NP_001369588.2:p.Arg576Pro
NM_001382662.3:c.1577G>C	NP_001369591.2:p.Arg526Pro
NM_001395413.1:c.1727G>C MANE Select	NP_001382342.1:p.Arg576Pro