Canonical Allele Identifier: CA4303725
Community Standard Title: NM_001395413.1(POR):c.560A>G (p.Tyr187Cys)
Gene: POR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75981100A>G , CM000669.2:g.75981100A>G GRCh38
NC_000007.13:g.75610418A>G , CM000669.1:g.75610418A>G GRCh37
NC_000007.12:g.75448354A>G NCBI36
NG_008930.1:g.70999A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001395413.1:c.560A>G MANE Select NP_001382342.1:p.Tyr187Cys
ENST00000461988.6:c.569A>G MANE Select ENSP00000419970.1:p.Tyr190Cys
NM_000941.2:c.569A>G NP_000932.3:p.Tyr190Cys
NM_000941.3:c.569A>G NP_000932.3:p.Tyr190Cys
NM_001367562.1:c.569A>G NP_001354491.1:p.Tyr190Cys
NM_001367562.3:c.560A>G NP_001354491.2:p.Tyr187Cys
NM_001382655.1:c.623A>G NP_001369584.1:p.Tyr208Cys
NM_001382655.3:c.614A>G NP_001369584.2:p.Tyr205Cys
NM_001382657.1:c.569A>G NP_001369586.1:p.Tyr190Cys
NM_001382657.2:c.560A>G NP_001369586.2:p.Tyr187Cys
NM_001382658.1:c.569A>G NP_001369587.1:p.Tyr190Cys
NM_001382658.3:c.560A>G NP_001369587.2:p.Tyr187Cys
NM_001382659.1:c.569A>G NP_001369588.1:p.Tyr190Cys
NM_001382659.3:c.560A>G NP_001369588.2:p.Tyr187Cys
NM_001382662.1:c.569A>G NP_001369591.1:p.Tyr190Cys
NM_001382662.3:c.560A>G NP_001369591.2:p.Tyr187Cys
ENST00000394893.5:c.569A>G ENSP00000378355.1:p.Tyr190Cys
ENST00000412064.6:c.566+3A>G ENSP00000404731.2:n.566+3A>G
ENST00000447222.5:c.720A>G
ENST00000454934.5:c.517-417A>G ENSP00000414263.1:n.517-417A>G
ENST00000460892.1:n.169A>G
ENST00000461988.5:c.569A>G ENSP00000419970.1:p.Tyr190Cys
ENST00000475509.2:c.344A>G ENSP00000516446.1:p.Tyr115Cys
ENST00000706544.1:c.569A>G ENSP00000516442.1:p.Tyr190Cys
ENST00000706545.1:c.569A>G ENSP00000516443.1:p.Tyr190Cys
ENST00000706546.1:c.569A>G ENSP00000516444.1:p.Tyr190Cys
ENST00000706547.1:c.569A>G ENSP00000516445.1:p.Tyr190Cys