Canonical Allele Identifier: CA456330777

Gene: POR

Linked Data

• ClinVar Variation Id: 2832907
• ClinVar RCV Id: RCV003631887
• dbSNP Id: rs782494234
• gnomAD v3: 7-75984805-G-T
• gnomAD v4: 7-75984805-G-T
• MyVariant Identifiers: chr7:g.75614123G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984805G>T , CM000669.2:g.75984805G>T	GRCh38
NC_000007.13:g.75614123G>T , CM000669.1:g.75614123G>T	GRCh37
NC_000007.12:g.75452059G>T	NCBI36
NG_008930.1:g.74704G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.870G>T	ENSP00000516446.1:p.Pro290=
ENST00000706544.1:c.996G>T	ENSP00000516442.1:p.Pro332=
ENST00000706545.1:c.1095G>T	ENSP00000516443.1:p.Pro365=
ENST00000706546.1:c.1095G>T	ENSP00000516444.1:p.Pro365=
ENST00000706547.1:c.1095G>T	ENSP00000516445.1:p.Pro365=
ENST00000461988.6:c.1095G>T MANE Select	ENSP00000419970.1:p.Pro365=
ENST00000394893.5:c.1095G>T	ENSP00000378355.1:p.Pro365=
ENST00000412064.6:c.*108+1169G>T	ENSP00000404731.2:n.*108+1169G>T
ENST00000439269.1:c.309G>T	ENSP00000412490.1:p.Pro103=
ENST00000447222.5:c.1246G>T
ENST00000454934.5:c.*400G>T	ENSP00000414263.1:n.*400G>T
ENST00000461988.5:c.1095G>T	ENSP00000419970.1:p.Pro365=
ENST00000487247.5:n.450G>T
ENST00000495770.1:n.97G>T
ENST00000496888.5:n.469G>T
NM_000941.2:c.1095G>T	NP_000932.3:p.Pro365=
NM_000941.3:c.1095G>T	NP_000932.3:p.Pro365=
NM_001367562.1:c.1095G>T	NP_001354491.1:p.Pro365=
NM_001382655.1:c.1149G>T	NP_001369584.1:p.Pro383=
NM_001382657.1:c.1095G>T	NP_001369586.1:p.Pro365=
NM_001382658.1:c.1095G>T	NP_001369587.1:p.Pro365=
NM_001382659.1:c.1095G>T	NP_001369588.1:p.Pro365=
NM_001382662.1:c.1095G>T	NP_001369591.1:p.Pro365=
NM_001367562.3:c.1086G>T	NP_001354491.2:p.Pro362=
NM_001382655.3:c.1140G>T	NP_001369584.2:p.Pro380=
NM_001382657.2:c.1086G>T	NP_001369586.2:p.Pro362=
NM_001382658.3:c.1086G>T	NP_001369587.2:p.Pro362=
NM_001382659.3:c.1086G>T	NP_001369588.2:p.Pro362=
NM_001382662.3:c.1086G>T	NP_001369591.2:p.Pro362=
NM_001395413.1:c.1086G>T MANE Select	NP_001382342.1:p.Pro362=