Canonical Allele Identifier: CA4303986

Gene: POR

Linked Data

• ClinVar Variation Id: 360709
• ClinVar RCV Id: RCV000307784
• dbSNP Id: rs782729580
• ExAC: 7:75614129 T / A
• gnomAD v2: 7-75614129-T-A
• gnomAD v3: 7-75984811-T-A
• gnomAD v4: 7-75984811-T-A
• MyVariant Identifiers: chr7:g.75614129T>A (hg19) ; chr7:g.75984811T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984811T>A , CM000669.2:g.75984811T>A	GRCh38
NC_000007.13:g.75614129T>A , CM000669.1:g.75614129T>A	GRCh37
NC_000007.12:g.75452065T>A	NCBI36
NG_008930.1:g.74710T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.876T>A	ENSP00000516446.1:p.Pro292=
ENST00000706544.1:c.1002T>A	ENSP00000516442.1:p.Pro334=
ENST00000706545.1:c.1101T>A	ENSP00000516443.1:p.Pro367=
ENST00000706546.1:c.1101T>A	ENSP00000516444.1:p.Pro367=
ENST00000706547.1:c.1101T>A	ENSP00000516445.1:p.Pro367=
ENST00000461988.6:c.1101T>A MANE Select	ENSP00000419970.1:p.Pro367=
ENST00000394893.5:c.1101T>A	ENSP00000378355.1:p.Pro367=
ENST00000412064.6:c.*108+1175T>A	ENSP00000404731.2:n.*108+1175T>A
ENST00000439269.1:c.315T>A	ENSP00000412490.1:p.Pro105=
ENST00000447222.5:c.1252T>A
ENST00000454934.5:c.*406T>A	ENSP00000414263.1:n.*406T>A
ENST00000461988.5:c.1101T>A	ENSP00000419970.1:p.Pro367=
ENST00000487247.5:n.456T>A
ENST00000495770.1:n.103T>A
ENST00000496888.5:n.475T>A
NM_000941.2:c.1101T>A	NP_000932.3:p.Pro367=
NM_000941.3:c.1101T>A	NP_000932.3:p.Pro367=
NM_001367562.1:c.1101T>A	NP_001354491.1:p.Pro367=
NM_001382655.1:c.1155T>A	NP_001369584.1:p.Pro385=
NM_001382657.1:c.1101T>A	NP_001369586.1:p.Pro367=
NM_001382658.1:c.1101T>A	NP_001369587.1:p.Pro367=
NM_001382659.1:c.1101T>A	NP_001369588.1:p.Pro367=
NM_001382662.1:c.1101T>A	NP_001369591.1:p.Pro367=
NM_001367562.3:c.1092T>A	NP_001354491.2:p.Pro364=
NM_001382655.3:c.1146T>A	NP_001369584.2:p.Pro382=
NM_001382657.2:c.1092T>A	NP_001369586.2:p.Pro364=
NM_001382658.3:c.1092T>A	NP_001369587.2:p.Pro364=
NM_001382659.3:c.1092T>A	NP_001369588.2:p.Pro364=
NM_001382662.3:c.1092T>A	NP_001369591.2:p.Pro364=
NM_001395413.1:c.1092T>A MANE Select	NP_001382342.1:p.Pro364=