Canonical Allele Identifier: CA4303777

Gene: POR

Linked Data

• ClinVar Variation Id: 436385
• ClinVar RCV Id: RCV001584216 ; RCV003925487
• dbSNP Id: rs17853284
• ExAC: 7:75610876 C / T
• gnomAD v2: 7-75610876-C-T
• gnomAD v3: 7-75981558-C-T
• gnomAD v4: 7-75981558-C-T
• MyVariant Identifiers: chr7:g.75610876C>T (hg19) ; chr7:g.75981558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75981558C>T , CM000669.2:g.75981558C>T	GRCh38
NC_000007.13:g.75610876C>T , CM000669.1:g.75610876C>T	GRCh37
NC_000007.12:g.75448812C>T	NCBI36
NG_008930.1:g.71457C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475509.2:c.458C>T	ENSP00000516446.1:p.Pro153Leu
ENST00000706544.1:c.683C>T	ENSP00000516442.1:p.Pro228Leu
ENST00000706545.1:c.683C>T	ENSP00000516443.1:p.Pro228Leu
ENST00000706546.1:c.683C>T	ENSP00000516444.1:p.Pro228Leu
ENST00000706547.1:c.683C>T	ENSP00000516445.1:p.Pro228Leu
ENST00000461988.6:c.683C>T MANE Select	ENSP00000419970.1:p.Pro228Leu
ENST00000394893.5:c.683C>T	ENSP00000378355.1:p.Pro228Leu
ENST00000412064.6:c.566+461C>T	ENSP00000404731.2:n.566+461C>T
ENST00000447222.5:c.834C>T
ENST00000454934.5:c.558C>T	ENSP00000414263.1:p.Ala186=
ENST00000460892.1:n.283C>T
ENST00000461988.5:c.683C>T	ENSP00000419970.1:p.Pro228Leu
NM_000941.2:c.683C>T	NP_000932.3:p.Pro228Leu
NM_000941.3:c.683C>T	NP_000932.3:p.Pro228Leu
NM_001367562.1:c.683C>T	NP_001354491.1:p.Pro228Leu
NM_001382655.1:c.737C>T	NP_001369584.1:p.Pro246Leu
NM_001382657.1:c.683C>T	NP_001369586.1:p.Pro228Leu
NM_001382658.1:c.683C>T	NP_001369587.1:p.Pro228Leu
NM_001382659.1:c.683C>T	NP_001369588.1:p.Pro228Leu
NM_001382662.1:c.683C>T	NP_001369591.1:p.Pro228Leu
NM_001367562.3:c.674C>T	NP_001354491.2:p.Pro225Leu
NM_001382655.3:c.728C>T	NP_001369584.2:p.Pro243Leu
NM_001382657.2:c.674C>T	NP_001369586.2:p.Pro225Leu
NM_001382658.3:c.674C>T	NP_001369587.2:p.Pro225Leu
NM_001382659.3:c.674C>T	NP_001369588.2:p.Pro225Leu
NM_001382662.3:c.674C>T	NP_001369591.2:p.Pro225Leu
NM_001395413.1:c.674C>T MANE Select	NP_001382342.1:p.Pro225Leu