Canonical Allele Identifier: CA367750418

Gene: POR

Linked Data

• gnomAD v4: 7-75985849-G-T
• MyVariant Identifiers: chr7:g.75615167G>T (hg19) ; chr7:g.75985849G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985849G>T , CM000669.2:g.75985849G>T	GRCh38
NC_000007.13:g.75615167G>T , CM000669.1:g.75615167G>T	GRCh37
NC_000007.12:g.75453103G>T	NCBI36
NG_008930.1:g.75748G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1444G>T	ENSP00000516446.1:p.Gly482Cys
ENST00000706544.1:c.1570G>T	ENSP00000516442.1:p.Gly524Cys
ENST00000706545.1:c.1669G>T	ENSP00000516443.1:p.Gly557Cys
ENST00000706546.1:c.1669G>T	ENSP00000516444.1:p.Gly557Cys
ENST00000706547.1:c.1669G>T	ENSP00000516445.1:p.Gly557Cys
ENST00000461988.6:c.1669G>T MANE Select	ENSP00000419970.1:p.Gly557Cys
ENST00000394893.5:c.1669G>T	ENSP00000378355.1:p.Gly557Cys
ENST00000412064.6:c.*109-211G>T	ENSP00000404731.2:n.*109-211G>T
ENST00000439269.1:c.883G>T	ENSP00000412490.1:p.Gly295Cys
ENST00000447222.5:c.1820G>T
ENST00000454934.5:c.*974G>T	ENSP00000414263.1:n.*974G>T
ENST00000461988.5:c.1669G>T	ENSP00000419970.1:p.Gly557Cys
ENST00000493973.1:n.280G>T
NM_000941.2:c.1669G>T	NP_000932.3:p.Gly557Cys
NM_000941.3:c.1669G>T	NP_000932.3:p.Gly557Cys
NM_001367562.1:c.1669G>T	NP_001354491.1:p.Gly557Cys
NM_001382655.1:c.1723G>T	NP_001369584.1:p.Gly575Cys
NM_001382657.1:c.1669G>T	NP_001369586.1:p.Gly557Cys
NM_001382658.1:c.1669G>T	NP_001369587.1:p.Gly557Cys
NM_001382659.1:c.1669G>T	NP_001369588.1:p.Gly557Cys
NM_001382662.1:c.1519G>T	NP_001369591.1:p.Gly507Cys
NM_001367562.3:c.1660G>T	NP_001354491.2:p.Gly554Cys
NM_001382655.3:c.1714G>T	NP_001369584.2:p.Gly572Cys
NM_001382657.2:c.1660G>T	NP_001369586.2:p.Gly554Cys
NM_001382658.3:c.1660G>T	NP_001369587.2:p.Gly554Cys
NM_001382659.3:c.1660G>T	NP_001369588.2:p.Gly554Cys
NM_001382662.3:c.1510G>T	NP_001369591.2:p.Gly504Cys
NM_001395413.1:c.1660G>T MANE Select	NP_001382342.1:p.Gly554Cys