Canonical Allele Identifier: CA4303992

Gene: POR

Linked Data

• ClinVar Variation Id: 1336032
• ClinVar RCV Id: RCV001822214 ; RCV001869654 ; RCV003238872
• dbSNP Id: rs367810540
• ExAC: 7:75614143 C / T
• gnomAD v2: 7-75614143-C-T
• gnomAD v3: 7-75984825-C-T
• gnomAD v4: 7-75984825-C-T
• MyVariant Identifiers: chr7:g.75614143C>T (hg19) ; chr7:g.75984825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984825C>T , CM000669.2:g.75984825C>T	GRCh38
NC_000007.13:g.75614143C>T , CM000669.1:g.75614143C>T	GRCh37
NC_000007.12:g.75452079C>T	NCBI36
NG_008930.1:g.74724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.890C>T	ENSP00000516446.1:p.Thr297Met
ENST00000706544.1:c.1016C>T	ENSP00000516442.1:p.Thr339Met
ENST00000706545.1:c.1115C>T	ENSP00000516443.1:p.Thr372Met
ENST00000706546.1:c.1115C>T	ENSP00000516444.1:p.Thr372Met
ENST00000706547.1:c.1115C>T	ENSP00000516445.1:p.Thr372Met
ENST00000461988.6:c.1115C>T MANE Select	ENSP00000419970.1:p.Thr372Met
ENST00000394893.5:c.1115C>T	ENSP00000378355.1:p.Thr372Met
ENST00000412064.6:c.*108+1189C>T	ENSP00000404731.2:n.*108+1189C>T
ENST00000439269.1:c.329C>T	ENSP00000412490.1:p.Thr110Met
ENST00000447222.5:c.1266C>T
ENST00000454934.5:c.*420C>T	ENSP00000414263.1:n.*420C>T
ENST00000461988.5:c.1115C>T	ENSP00000419970.1:p.Thr372Met
ENST00000487247.5:n.470C>T
ENST00000495770.1:n.117C>T
ENST00000496888.5:n.489C>T
NM_000941.2:c.1115C>T	NP_000932.3:p.Thr372Met
NM_000941.3:c.1115C>T	NP_000932.3:p.Thr372Met
NM_001367562.1:c.1115C>T	NP_001354491.1:p.Thr372Met
NM_001382655.1:c.1169C>T	NP_001369584.1:p.Thr390Met
NM_001382657.1:c.1115C>T	NP_001369586.1:p.Thr372Met
NM_001382658.1:c.1115C>T	NP_001369587.1:p.Thr372Met
NM_001382659.1:c.1115C>T	NP_001369588.1:p.Thr372Met
NM_001382662.1:c.1115C>T	NP_001369591.1:p.Thr372Met
NM_001367562.3:c.1106C>T	NP_001354491.2:p.Thr369Met
NM_001382655.3:c.1160C>T	NP_001369584.2:p.Thr387Met
NM_001382657.2:c.1106C>T	NP_001369586.2:p.Thr369Met
NM_001382658.3:c.1106C>T	NP_001369587.2:p.Thr369Met
NM_001382659.3:c.1106C>T	NP_001369588.2:p.Thr369Met
NM_001382662.3:c.1106C>T	NP_001369591.2:p.Thr369Met
NM_001395413.1:c.1106C>T MANE Select	NP_001382342.1:p.Thr369Met