Canonical Allele Identifier: CA367747182

Gene: POR

Linked Data

• dbSNP Id: rs1554556320
• gnomAD v2: 7-75601759-G-C
• gnomAD v4: 7-75972441-G-C
• MyVariant Identifiers: chr7:g.75601759G>C (hg19) ; chr7:g.75972441G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75972441G>C , CM000669.2:g.75972441G>C	GRCh38
NC_000007.13:g.75601759G>C , CM000669.1:g.75601759G>C	GRCh37
NC_000007.12:g.75439695G>C	NCBI36
NG_008930.1:g.62340G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.-9G>C	ENSP00000516446.1:n.-9G>C
ENST00000706544.1:c.217G>C	ENSP00000516442.1:p.Val73Leu
ENST00000706545.1:c.217G>C	ENSP00000516443.1:p.Val73Leu
ENST00000706546.1:c.217G>C	ENSP00000516444.1:p.Val73Leu
ENST00000706547.1:c.217G>C	ENSP00000516445.1:p.Val73Leu
ENST00000461988.6:c.217G>C MANE Select	ENSP00000419970.1:p.Val73Leu
ENST00000394893.5:c.217G>C	ENSP00000378355.1:p.Val73Leu
ENST00000412064.6:c.217G>C	ENSP00000404731.2:p.Val73Leu
ENST00000412521.5:c.217G>C	ENSP00000409238.1:p.Val73Leu
ENST00000414186.5:c.217G>C	ENSP00000399327.1:p.Val73Leu
ENST00000426184.1:c.76G>C	ENSP00000400964.1:p.Val26Leu
ENST00000432753.5:c.217G>C	ENSP00000389409.1:p.Val73Leu
ENST00000439297.1:c.56G>C	ENSP00000403494.1:p.Cys19Ser
ENST00000439963.5:c.217G>C	ENSP00000390540.1:p.Val73Leu
ENST00000447222.5:c.134G>C
ENST00000448410.5:c.217G>C	ENSP00000399409.1:p.Val73Leu
ENST00000453773.5:c.217G>C	ENSP00000395813.1:p.Val73Leu
ENST00000454934.5:c.217G>C	ENSP00000414263.1:p.Val73Leu
ENST00000461988.5:c.217G>C	ENSP00000419970.1:p.Val73Leu
ENST00000471238.5:n.244G>C
ENST00000475509.1:n.419G>C
NM_000941.2:c.217G>C	NP_000932.3:p.Val73Leu
NM_000941.3:c.217G>C	NP_000932.3:p.Val73Leu
NM_001367562.1:c.217G>C	NP_001354491.1:p.Val73Leu
NM_001382655.1:c.271G>C	NP_001369584.1:p.Val91Leu
NM_001382657.1:c.217G>C	NP_001369586.1:p.Val73Leu
NM_001382658.1:c.217G>C	NP_001369587.1:p.Val73Leu
NM_001382659.1:c.217G>C	NP_001369588.1:p.Val73Leu
NM_001382662.1:c.217G>C	NP_001369591.1:p.Val73Leu
NM_001367562.3:c.208G>C	NP_001354491.2:p.Val70Leu
NM_001382655.3:c.262G>C	NP_001369584.2:p.Val88Leu
NM_001382657.2:c.208G>C	NP_001369586.2:p.Val70Leu
NM_001382658.3:c.208G>C	NP_001369587.2:p.Val70Leu
NM_001382659.3:c.208G>C	NP_001369588.2:p.Val70Leu
NM_001382662.3:c.208G>C	NP_001369591.2:p.Val70Leu
NM_001395413.1:c.208G>C MANE Select	NP_001382342.1:p.Val70Leu