Canonical Allele Identifier: CA367749252

Gene: POR

Linked Data

• dbSNP Id: rs1237849921
• MyVariant Identifiers: chr7:g.75614128C>T (hg19) ; chr7:g.75984810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984810C>T , CM000669.2:g.75984810C>T	GRCh38
NC_000007.13:g.75614128C>T , CM000669.1:g.75614128C>T	GRCh37
NC_000007.12:g.75452064C>T	NCBI36
NG_008930.1:g.74709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.875C>T	ENSP00000516446.1:p.Pro292Leu
ENST00000706544.1:c.1001C>T	ENSP00000516442.1:p.Pro334Leu
ENST00000706545.1:c.1100C>T	ENSP00000516443.1:p.Pro367Leu
ENST00000706546.1:c.1100C>T	ENSP00000516444.1:p.Pro367Leu
ENST00000706547.1:c.1100C>T	ENSP00000516445.1:p.Pro367Leu
ENST00000461988.6:c.1100C>T MANE Select	ENSP00000419970.1:p.Pro367Leu
ENST00000394893.5:c.1100C>T	ENSP00000378355.1:p.Pro367Leu
ENST00000412064.6:c.*108+1174C>T	ENSP00000404731.2:n.*108+1174C>T
ENST00000439269.1:c.314C>T	ENSP00000412490.1:p.Pro105Leu
ENST00000447222.5:c.1251C>T
ENST00000454934.5:c.*405C>T	ENSP00000414263.1:n.*405C>T
ENST00000461988.5:c.1100C>T	ENSP00000419970.1:p.Pro367Leu
ENST00000487247.5:n.455C>T
ENST00000495770.1:n.102C>T
ENST00000496888.5:n.474C>T
NM_000941.2:c.1100C>T	NP_000932.3:p.Pro367Leu
NM_000941.3:c.1100C>T	NP_000932.3:p.Pro367Leu
NM_001367562.1:c.1100C>T	NP_001354491.1:p.Pro367Leu
NM_001382655.1:c.1154C>T	NP_001369584.1:p.Pro385Leu
NM_001382657.1:c.1100C>T	NP_001369586.1:p.Pro367Leu
NM_001382658.1:c.1100C>T	NP_001369587.1:p.Pro367Leu
NM_001382659.1:c.1100C>T	NP_001369588.1:p.Pro367Leu
NM_001382662.1:c.1100C>T	NP_001369591.1:p.Pro367Leu
NM_001367562.3:c.1091C>T	NP_001354491.2:p.Pro364Leu
NM_001382655.3:c.1145C>T	NP_001369584.2:p.Pro382Leu
NM_001382657.2:c.1091C>T	NP_001369586.2:p.Pro364Leu
NM_001382658.3:c.1091C>T	NP_001369587.2:p.Pro364Leu
NM_001382659.3:c.1091C>T	NP_001369588.2:p.Pro364Leu
NM_001382662.3:c.1091C>T	NP_001369591.2:p.Pro364Leu
NM_001395413.1:c.1091C>T MANE Select	NP_001382342.1:p.Pro364Leu