Canonical Allele Identifier: CA456330830

Gene: POR

Linked Data

• gnomAD v4: 7-75984916-G-A
• MyVariant Identifiers: chr7:g.75614234G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984916G>A , CM000669.2:g.75984916G>A	GRCh38
NC_000007.13:g.75614234G>A , CM000669.1:g.75614234G>A	GRCh37
NC_000007.12:g.75452170G>A	NCBI36
NG_008930.1:g.74815G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.981G>A	ENSP00000516446.1:p.Gln327=
ENST00000706544.1:c.1107G>A	ENSP00000516442.1:p.Gln369=
ENST00000706545.1:c.1206G>A	ENSP00000516443.1:p.Gln402=
ENST00000706546.1:c.1206G>A	ENSP00000516444.1:p.Gln402=
ENST00000706547.1:c.1206G>A	ENSP00000516445.1:p.Gln402=
ENST00000461988.6:c.1206G>A MANE Select	ENSP00000419970.1:p.Gln402=
ENST00000394893.5:c.1206G>A	ENSP00000378355.1:p.Gln402=
ENST00000412064.6:c.*109-1144G>A	ENSP00000404731.2:n.*109-1144G>A
ENST00000439269.1:c.420G>A	ENSP00000412490.1:p.Gln140=
ENST00000447222.5:c.1357G>A
ENST00000454934.5:c.*511G>A	ENSP00000414263.1:n.*511G>A
ENST00000461988.5:c.1206G>A	ENSP00000419970.1:p.Gln402=
ENST00000487247.5:n.561G>A
ENST00000495770.1:n.208G>A
ENST00000496888.5:n.580G>A
NM_000941.2:c.1206G>A	NP_000932.3:p.Gln402=
NM_000941.3:c.1206G>A	NP_000932.3:p.Gln402=
NM_001367562.1:c.1206G>A	NP_001354491.1:p.Gln402=
NM_001382655.1:c.1260G>A	NP_001369584.1:p.Gln420=
NM_001382657.1:c.1206G>A	NP_001369586.1:p.Gln402=
NM_001382658.1:c.1206G>A	NP_001369587.1:p.Gln402=
NM_001382659.1:c.1206G>A	NP_001369588.1:p.Gln402=
NM_001382662.1:c.1206G>A	NP_001369591.1:p.Gln402=
NM_001367562.3:c.1197G>A	NP_001354491.2:p.Gln399=
NM_001382655.3:c.1251G>A	NP_001369584.2:p.Gln417=
NM_001382657.2:c.1197G>A	NP_001369586.2:p.Gln399=
NM_001382658.3:c.1197G>A	NP_001369587.2:p.Gln399=
NM_001382659.3:c.1197G>A	NP_001369588.2:p.Gln399=
NM_001382662.3:c.1197G>A	NP_001369591.2:p.Gln399=
NM_001395413.1:c.1197G>A MANE Select	NP_001382342.1:p.Gln399=