UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
135008
ClinVar RCV Id:
RCV000121775
dbSNP Id:
rs142726131
ExAC:
3:52584478 G / A
gnomAD v2:
3-52584478-G-A
gnomAD v3:
3-52550462-G-A
gnomAD v4:
3-52550462-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52550462G>A , CM000665.2:g.52550462G>A | GRCh38 |
| NC_000003.11:g.52584478G>A , CM000665.1:g.52584478G>A | GRCh37 |
| NC_000003.10:g.52559518G>A | NCBI36 |
| NG_032108.1:g.140389C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707071.1:c.4901C>T (PBRM1) MANE Select | ENSP00000516722.1:p.Ala1634Val | |
| ENST00000296302.11:c.4856C>T (PBRM1) | ENSP00000296302.7:p.Ala1619Val | |
| ENST00000337303.8:c.4535C>T (PBRM1) | ENSP00000338302.4:p.Ala1512Val | |
| ENST00000356770.8:c.4595C>T (PBRM1) | ENSP00000349213.4:p.Ala1532Val | |
| ENST00000394830.7:c.4535C>T (PBRM1) | ENSP00000378307.3:p.Ala1512Val | |
| ENST00000409057.5:c.4691C>T (PBRM1) | ENSP00000386593.1:p.Ala1564Val | |
| ENST00000409114.7:c.4745C>T (PBRM1) | ENSP00000386643.3:p.Ala1582Val | |
| ENST00000409767.5:c.4580C>T (PBRM1) | ENSP00000386601.1:p.Ala1527Val | |
| ENST00000410007.5:c.4616C>T (PBRM1) | ENSP00000386529.1:p.Ala1539Val | |
| ENST00000412587.5:c.*1905C>T (PBRM1) | ENSP00000404579.1:n.*1905C>T | |
| ENST00000476842.1:c.151+13556G>A (UQCC5) | ENSP00000418000.1:n.151+13556G>A | |
| NM_018313.4:c.4535C>T (PBRM1) | NP_060783.3:p.Ala1512Val | |
| XM_005265275.3:c.4955C>T (PBRM1) | XP_005265332.1:p.Ala1652Val | |
| XM_005265279.3:c.4901C>T (PBRM1) | XP_005265336.1:p.Ala1634Val | |
| XM_005265280.2:c.4901C>T (PBRM1) | XP_005265337.1:p.Ala1634Val | |
| XM_005265282.2:c.4901C>T (PBRM1) | XP_005265339.1:p.Ala1634Val | |
| XM_005265283.2:c.4901C>T (PBRM1) | XP_005265340.1:p.Ala1634Val | |
| XM_006713220.2:c.4955C>T (PBRM1) | XP_006713283.1:p.Ala1652Val | |
| XM_006713221.2:c.4955C>T (PBRM1) | XP_006713284.1:p.Ala1652Val | |
| XM_011533900.1:c.4964C>T (PBRM1) | XP_011532202.1:p.Ala1655Val | |
| XM_011533901.1:c.4964C>T (PBRM1) | XP_011532203.1:p.Ala1655Val | |
| XM_011533902.1:c.4964C>T (PBRM1) | XP_011532204.1:p.Ala1655Val | |
| XM_011533903.1:c.4964C>T (PBRM1) | XP_011532205.1:p.Ala1655Val | |
| XM_011533904.1:c.4961C>T (PBRM1) | XP_011532206.1:p.Ala1654Val | |
| XM_011533905.1:c.4961C>T (PBRM1) | XP_011532207.1:p.Ala1654Val | |
| XM_011533906.1:c.4919C>T (PBRM1) | XP_011532208.1:p.Ala1640Val | |
| XM_011533907.1:c.4901C>T (PBRM1) | XP_011532209.1:p.Ala1634Val | |
| XM_011533908.1:c.4901C>T (PBRM1) | XP_011532210.1:p.Ala1634Val | |
| XM_011533909.1:c.4889C>T (PBRM1) | XP_011532211.1:p.Ala1630Val | |
| XM_011533910.1:c.4868C>T (PBRM1) | XP_011532212.1:p.Ala1623Val | |
| XM_011533911.1:c.4844C>T (PBRM1) | XP_011532213.1:p.Ala1615Val | |
| XM_011533912.1:c.4808C>T (PBRM1) | XP_011532214.1:p.Ala1603Val | |
| XM_011533913.1:c.4799C>T (PBRM1) | XP_011532215.1:p.Ala1600Val | |
| XM_011533914.1:c.4754C>T (PBRM1) | XP_011532216.1:p.Ala1585Val | |
| XM_011533915.1:c.4751C>T (PBRM1) | XP_011532217.1:p.Ala1584Val | |
| XM_011533916.1:c.4679C>T (PBRM1) | XP_011532218.1:p.Ala1560Val | |
| XM_011533917.1:c.4658C>T (PBRM1) | XP_011532219.1:p.Ala1553Val | |
| XM_011533918.1:c.4643C>T (PBRM1) | XP_011532220.1:p.Ala1548Val | |
| XM_011533919.1:c.4598C>T (PBRM1) | XP_011532221.1:p.Ala1533Val | |
| NM_001350074.1:c.4643C>T (PBRM1) | NP_001337003.1:p.Ala1548Val | |
| NM_001350075.1:c.4691C>T (PBRM1) | NP_001337004.1:p.Ala1564Val | |
| NM_001350076.1:c.4640C>T (PBRM1) | NP_001337005.1:p.Ala1547Val | |
| NM_001350077.1:c.4634C>T (PBRM1) | NP_001337006.1:p.Ala1545Val | |
| NM_001350078.1:c.4643C>T (PBRM1) | NP_001337007.1:p.Ala1548Val | |
| NM_001350079.1:c.4523C>T (PBRM1) | NP_001337008.1:p.Ala1508Val | |
| NM_001366070.1:c.4643C>T (PBRM1) | NP_001352999.1:p.Ala1548Val | |
| NM_001366071.1:c.4763C>T (PBRM1) | NP_001353000.1:p.Ala1588Val | |
| NM_001366072.1:c.4598C>T (PBRM1) | NP_001353001.1:p.Ala1533Val | |
| NM_001366073.1:c.4589C>T (PBRM1) | NP_001353002.1:p.Ala1530Val | |
| NM_001366074.1:c.4586C>T (PBRM1) | NP_001353003.1:p.Ala1529Val | |
| NM_001366075.1:c.4568C>T (PBRM1) | NP_001353004.1:p.Ala1523Val | |
| NM_001366076.1:c.4538C>T (PBRM1) | NP_001353005.1:p.Ala1513Val | |
| NM_181042.4:c.4535C>T (PBRM1) | NP_851385.1:p.Ala1512Val | |
| XM_005265279.5:c.4901C>T (PBRM1) | XP_005265336.1:p.Ala1634Val | |
| XM_005265280.3:c.4901C>T (PBRM1) | XP_005265337.1:p.Ala1634Val | |
| XM_005265282.4:c.4901C>T (PBRM1) | XP_005265339.1:p.Ala1634Val | |
| XM_011533900.3:c.4964C>T (PBRM1) | XP_011532202.1:p.Ala1655Val | |
| XM_011533902.3:c.4964C>T (PBRM1) | XP_011532204.1:p.Ala1655Val | |
| XM_011533903.3:c.4964C>T (PBRM1) | XP_011532205.1:p.Ala1655Val | |
| XM_017006725.1:c.4991C>T (PBRM1) | XP_016862214.1:p.Ala1664Val | |
| XM_017006726.1:c.4991C>T (PBRM1) | XP_016862215.1:p.Ala1664Val | |
| XM_017006727.1:c.4991C>T (PBRM1) | XP_016862216.1:p.Ala1664Val | |
| XM_017006728.1:c.4991C>T (PBRM1) | XP_016862217.1:p.Ala1664Val | |
| XM_017006729.2:c.4988C>T (PBRM1) | XP_016862218.1:p.Ala1663Val | |
| XM_017006730.1:c.4982C>T (PBRM1) | XP_016862219.1:p.Ala1661Val | |
| XM_017006731.1:c.4982C>T (PBRM1) | XP_016862220.1:p.Ala1661Val | |
| XM_017006732.1:c.4961C>T (PBRM1) | XP_016862221.1:p.Ala1654Val | |
| XM_017006733.2:c.4952C>T (PBRM1) | XP_016862222.1:p.Ala1651Val | |
| XM_017006734.2:c.4952C>T (PBRM1) | XP_016862223.1:p.Ala1651Val | |
| XM_017006735.2:c.4946C>T (PBRM1) | XP_016862224.1:p.Ala1649Val | |
| XM_017006736.1:c.4943C>T (PBRM1) | XP_016862225.1:p.Ala1648Val | |
| XM_017006737.1:c.4928C>T (PBRM1) | XP_016862226.1:p.Ala1643Val | |
| XM_017006738.2:c.4928C>T (PBRM1) | XP_016862227.1:p.Ala1643Val | |
| XM_017006739.1:c.4928C>T (PBRM1) | XP_016862228.1:p.Ala1643Val | |
| XM_017006740.1:c.4928C>T (PBRM1) | XP_016862229.1:p.Ala1643Val | |
| XM_017006741.2:c.4919C>T (PBRM1) | XP_016862230.1:p.Ala1640Val | |
| XM_017006742.1:c.4919C>T (PBRM1) | XP_016862231.1:p.Ala1640Val | |
| XM_017006743.2:c.4916C>T (PBRM1) | XP_016862232.1:p.Ala1639Val | |
| XM_017006744.1:c.4910C>T (PBRM1) | XP_016862233.1:p.Ala1637Val | |
| XM_017006745.2:c.4901C>T (PBRM1) | XP_016862234.1:p.Ala1634Val | |
| XM_017006746.2:c.4901C>T (PBRM1) | XP_016862235.1:p.Ala1634Val | |
| XM_017006747.1:c.4895C>T (PBRM1) | XP_016862236.1:p.Ala1632Val | |
| XM_017006748.1:c.4856C>T (PBRM1) | XP_016862237.1:p.Ala1619Val | |
| XM_017006749.1:c.4856C>T (PBRM1) | XP_016862238.1:p.Ala1619Val | |
| XM_017006750.1:c.4856C>T (PBRM1) | XP_016862239.1:p.Ala1619Val | |
| XM_017006751.2:c.4844C>T (PBRM1) | XP_016862240.1:p.Ala1615Val | |
| XM_017006752.1:c.4835C>T (PBRM1) | XP_016862241.1:p.Ala1612Val | |
| XM_017006753.2:c.4826C>T (PBRM1) | XP_016862242.1:p.Ala1609Val | |
| XM_017006754.1:c.4808C>T (PBRM1) | XP_016862243.1:p.Ala1603Val | |
| XM_017006755.2:c.4754C>T (PBRM1) | XP_016862244.1:p.Ala1585Val | |
| XM_017006756.2:c.4751C>T (PBRM1) | XP_016862245.1:p.Ala1584Val | |
| XM_017006758.1:c.4691C>T (PBRM1) | XP_016862247.1:p.Ala1564Val | |
| XM_017006759.2:c.4679C>T (PBRM1) | XP_016862248.1:p.Ala1560Val | |
| XM_017006764.2:c.4598C>T (PBRM1) | XP_016862253.1:p.Ala1533Val | |
| XM_024453618.1:c.4955C>T (PBRM1) | XP_024309386.1:p.Ala1652Val | |
| XM_024453619.1:c.4955C>T (PBRM1) | XP_024309387.1:p.Ala1652Val | |
| XR_001740194.2:n.5908C>T (PBRM1) | ||
| NM_001350074.2:c.4643C>T (PBRM1) | NP_001337003.1:p.Ala1548Val | |
| NM_001350075.2:c.4691C>T (PBRM1) | NP_001337004.1:p.Ala1564Val | |
| NM_001350076.2:c.4640C>T (PBRM1) | NP_001337005.1:p.Ala1547Val | |
| NM_001350077.2:c.4634C>T (PBRM1) | NP_001337006.1:p.Ala1545Val | |
| NM_001350078.2:c.4643C>T (PBRM1) | NP_001337007.1:p.Ala1548Val | |
| NM_001350079.2:c.4523C>T (PBRM1) | NP_001337008.1:p.Ala1508Val | |
| NM_001366070.2:c.4643C>T (PBRM1) | NP_001352999.1:p.Ala1548Val | |
| NM_001366071.2:c.4763C>T (PBRM1) | NP_001353000.1:p.Ala1588Val | |
| NM_001366072.2:c.4598C>T (PBRM1) | NP_001353001.1:p.Ala1533Val | |
| NM_001366073.2:c.4589C>T (PBRM1) | NP_001353002.1:p.Ala1530Val | |
| NM_001366074.2:c.4586C>T (PBRM1) | NP_001353003.1:p.Ala1529Val | |
| NM_001366075.2:c.4568C>T (PBRM1) | NP_001353004.1:p.Ala1523Val | |
| NM_001366076.2:c.4538C>T (PBRM1) | NP_001353005.1:p.Ala1513Val | |
| NM_018313.5:c.4535C>T (PBRM1) | NP_060783.3:p.Ala1512Val | |
| NM_181042.5:c.4535C>T (PBRM1) | NP_851385.1:p.Ala1512Val | |
| NM_001394867.1:c.4856C>T (PBRM1) | NP_001381796.1:p.Ala1619Val | |
| NM_001394868.1:c.4856C>T (PBRM1) | NP_001381797.1:p.Ala1619Val | |
| NM_001394869.1:c.4856C>T (PBRM1) | NP_001381798.1:p.Ala1619Val | |
| NM_001394870.1:c.4745C>T (PBRM1) | NP_001381799.1:p.Ala1582Val | |
| NM_001394871.1:c.4700C>T (PBRM1) | NP_001381800.1:p.Ala1567Val | |
| NM_001394872.1:c.4691C>T (PBRM1) | NP_001381801.1:p.Ala1564Val | |
| NM_001394873.1:c.4688C>T (PBRM1) | NP_001381802.1:p.Ala1563Val | |
| NM_001394874.1:c.4688C>T (PBRM1) | NP_001381803.1:p.Ala1563Val | |
| NM_001394875.1:c.4535C>T (PBRM1) | NP_001381804.1:p.Ala1512Val | |
| NM_001394876.1:c.4532C>T (PBRM1) | NP_001381805.1:p.Ala1511Val | |
| NM_001394877.1:c.4532C>T (PBRM1) | NP_001381806.1:p.Ala1511Val | |
| NM_001394878.1:c.4499C>T (PBRM1) | NP_001381807.1:p.Ala1500Val | |
| NM_001400470.1:c.4856C>T (PBRM1) | NP_001387399.1:p.Ala1619Val | |
| NM_001400471.1:c.4745C>T (PBRM1) | NP_001387400.1:p.Ala1582Val | |
| NM_001400472.1:c.4712C>T (PBRM1) | NP_001387401.1:p.Ala1571Val | |
| NM_001400473.1:c.4697C>T (PBRM1) | NP_001387402.1:p.Ala1566Val | |
| NM_001400474.1:c.4691C>T (PBRM1) | NP_001387403.1:p.Ala1564Val | |
| NM_001400475.1:c.4691C>T (PBRM1) | NP_001387404.1:p.Ala1564Val | |
| NM_001400479.1:c.4691C>T (PBRM1) | NP_001387408.1:p.Ala1564Val | |
| NM_001400481.1:c.4688C>T (PBRM1) | NP_001387410.1:p.Ala1563Val | |
| NM_001400484.1:c.4616C>T (PBRM1) | NP_001387413.1:p.Ala1539Val | |
| NM_001400487.1:c.4595C>T (PBRM1) | NP_001387416.1:p.Ala1532Val | |
| NM_001400490.1:c.4460C>T (PBRM1) | NP_001387419.1:p.Ala1487Val | |
| NM_001400496.1:c.4535C>T (PBRM1) | NP_001387425.1:p.Ala1512Val | |
| NM_001400500.1:c.4535C>T (PBRM1) | NP_001387429.1:p.Ala1512Val | |
| NM_001400501.1:c.4535C>T (PBRM1) | NP_001387430.1:p.Ala1512Val | |
| NM_001400504.1:c.4460C>T (PBRM1) | NP_001387433.1:p.Ala1487Val | |
| NR_174502.1:n.5003C>T (PBRM1) |