Canonical Allele Identifier: CA367748454

Gene: POR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75982236C>G , CM000669.2:g.75982236C>G	GRCh38
NC_000007.13:g.75611554C>G , CM000669.1:g.75611554C>G	GRCh37
NC_000007.12:g.75449490C>G	NCBI36
NG_008930.1:g.72135C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001395413.1:c.735C>G MANE Select	NP_001382342.1:p.Tyr245Ter
ENST00000461988.6:c.744C>G MANE Select	ENSP00000419970.1:p.Tyr248Ter
NM_000941.2:c.744C>G	NP_000932.3:p.Tyr248Ter
NM_000941.3:c.744C>G	NP_000932.3:p.Tyr248Ter
NM_001367562.1:c.744C>G	NP_001354491.1:p.Tyr248Ter
NM_001367562.3:c.735C>G	NP_001354491.2:p.Tyr245Ter
NM_001382655.1:c.798C>G	NP_001369584.1:p.Tyr266Ter
NM_001382655.3:c.789C>G	NP_001369584.2:p.Tyr263Ter
NM_001382657.1:c.744C>G	NP_001369586.1:p.Tyr248Ter
NM_001382657.2:c.735C>G	NP_001369586.2:p.Tyr245Ter
NM_001382658.1:c.744C>G	NP_001369587.1:p.Tyr248Ter
NM_001382658.3:c.735C>G	NP_001369587.2:p.Tyr245Ter
NM_001382659.1:c.744C>G	NP_001369588.1:p.Tyr248Ter
NM_001382659.3:c.735C>G	NP_001369588.2:p.Tyr245Ter
NM_001382662.1:c.744C>G	NP_001369591.1:p.Tyr248Ter
NM_001382662.3:c.735C>G	NP_001369591.2:p.Tyr245Ter
ENST00000394893.5:c.744C>G	ENSP00000378355.1:p.Tyr248Ter
ENST00000412064.6:c.567-26C>G	ENSP00000404731.2:n.567-26C>G
ENST00000439269.1:c.-43C>G	ENSP00000412490.1:n.-43C>G
ENST00000447222.5:c.895C>G
ENST00000454934.5:c.*49C>G	ENSP00000414263.1:n.*49C>G
ENST00000460892.1:n.344C>G
ENST00000461988.5:c.744C>G	ENSP00000419970.1:p.Tyr248Ter
ENST00000475509.2:c.519C>G	ENSP00000516446.1:p.Tyr173Ter
ENST00000706544.1:c.731+630C>G	ENSP00000516442.1:n.731+630C>G
ENST00000706545.1:c.744C>G	ENSP00000516443.1:p.Tyr248Ter
ENST00000706546.1:c.744C>G	ENSP00000516444.1:p.Tyr248Ter
ENST00000706547.1:c.744C>G	ENSP00000516445.1:p.Tyr248Ter