Canonical Allele Identifier: CA456330846

Gene: POR

Linked Data

• dbSNP Id: rs1563433978
• gnomAD v2: 7-75614160-C-T
• gnomAD v3: 7-75984842-C-T
• gnomAD v4: 7-75984842-C-T
• MyVariant Identifiers: chr7:g.75614160C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984842C>T , CM000669.2:g.75984842C>T	GRCh38
NC_000007.13:g.75614160C>T , CM000669.1:g.75614160C>T	GRCh37
NC_000007.12:g.75452096C>T	NCBI36
NG_008930.1:g.74741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.907C>T	ENSP00000516446.1:p.Leu303=
ENST00000706544.1:c.1033C>T	ENSP00000516442.1:p.Leu345=
ENST00000706545.1:c.1132C>T	ENSP00000516443.1:p.Leu378=
ENST00000706546.1:c.1132C>T	ENSP00000516444.1:p.Leu378=
ENST00000706547.1:c.1132C>T	ENSP00000516445.1:p.Leu378=
ENST00000461988.6:c.1132C>T MANE Select	ENSP00000419970.1:p.Leu378=
ENST00000394893.5:c.1132C>T	ENSP00000378355.1:p.Leu378=
ENST00000412064.6:c.*108+1206C>T	ENSP00000404731.2:n.*108+1206C>T
ENST00000439269.1:c.346C>T	ENSP00000412490.1:p.Leu116=
ENST00000447222.5:c.1283C>T
ENST00000454934.5:c.*437C>T	ENSP00000414263.1:n.*437C>T
ENST00000461988.5:c.1132C>T	ENSP00000419970.1:p.Leu378=
ENST00000487247.5:n.487C>T
ENST00000495770.1:n.134C>T
ENST00000496888.5:n.506C>T
NM_000941.2:c.1132C>T	NP_000932.3:p.Leu378=
NM_000941.3:c.1132C>T	NP_000932.3:p.Leu378=
NM_001367562.1:c.1132C>T	NP_001354491.1:p.Leu378=
NM_001382655.1:c.1186C>T	NP_001369584.1:p.Leu396=
NM_001382657.1:c.1132C>T	NP_001369586.1:p.Leu378=
NM_001382658.1:c.1132C>T	NP_001369587.1:p.Leu378=
NM_001382659.1:c.1132C>T	NP_001369588.1:p.Leu378=
NM_001382662.1:c.1132C>T	NP_001369591.1:p.Leu378=
NM_001367562.3:c.1123C>T	NP_001354491.2:p.Leu375=
NM_001382655.3:c.1177C>T	NP_001369584.2:p.Leu393=
NM_001382657.2:c.1123C>T	NP_001369586.2:p.Leu375=
NM_001382658.3:c.1123C>T	NP_001369587.2:p.Leu375=
NM_001382659.3:c.1123C>T	NP_001369588.2:p.Leu375=
NM_001382662.3:c.1123C>T	NP_001369591.2:p.Leu375=
NM_001395413.1:c.1123C>T MANE Select	NP_001382342.1:p.Leu375=