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:
989952
dbSNP Id:
rs1953787387
MyVariant Identifiers:
chr11:g.17415831A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17394284A>C , CM000673.2:g.17394284A>C | GRCh38 |
| NC_000011.9:g.17415831A>C , CM000673.1:g.17415831A>C | GRCh37 |
| NC_000011.8:g.17372407A>C | NCBI36 |
| NG_008867.1:g.87619T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4128T>G | ||
| ENST00000526037.6:n.462T>G | ||
| ENST00000528374.2:c.1118T>G | ||
| ENST00000529967.6:n.2866T>G | ||
| ENST00000532220.2:n.3760T>G | ||
| ENST00000642611.2:n.5860T>G | ||
| ENST00000644057.2:n.1103T>G | ||
| ENST00000645004.2:n.2026T>G | ||
| ENST00000682051.1:n.4689T>G | ||
| ENST00000682110.1:n.4742T>G | ||
| ENST00000682140.1:c.*313T>G | ENSP00000507829.1:n.*313T>G | |
| ENST00000682185.1:n.5832T>G | ||
| ENST00000682204.1:c.*2665T>G | ENSP00000507094.1:n.*2665T>G | |
| ENST00000682215.1:n.5109T>G | ||
| ENST00000682288.1:c.*2958T>G | ENSP00000507506.1:n.*2958T>G | |
| ENST00000682442.1:n.4962T>G | ||
| ENST00000682528.1:n.4819T>G | ||
| ENST00000682673.1:n.4686T>G | ||
| ENST00000682805.1:n.5147T>G | ||
| ENST00000682965.1:c.*949T>G | ENSP00000508229.1:n.*949T>G | |
| ENST00000683093.1:n.5722T>G | ||
| ENST00000683136.1:c.4410T>G | ENSP00000507768.1:p.Ala1470= | |
| ENST00000683153.1:n.4784T>G | ||
| ENST00000683365.1:n.4844T>G | ||
| ENST00000683377.1:n.4638T>G | ||
| ENST00000683456.1:c.*1664T>G | ENSP00000508318.1:n.*1664T>G | |
| ENST00000683522.1:n.4824T>G | ||
| ENST00000683562.1:c.*2592T>G | ENSP00000508265.1:n.*2592T>G | |
| ENST00000683693.1:n.6203T>G | ||
| ENST00000683725.1:c.4423T>G | ENSP00000507496.1:p.Phe1475Val | |
| ENST00000684010.1:n.4737T>G | ||
| ENST00000684014.1:n.714T>G | ||
| ENST00000684157.1:n.5727T>G | ||
| ENST00000684253.1:n.4645T>G | ||
| ENST00000684288.1:c.*2699T>G | ENSP00000507143.1:n.*2699T>G | |
| ENST00000684313.1:n.4174T>G | ||
| ENST00000684332.1:n.4815T>G | ||
| ENST00000684371.1:n.4848T>G | ||
| ENST00000684404.1:n.5770T>G | ||
| ENST00000684442.1:n.4966T>G | ||
| ENST00000684555.1:c.*2739T>G | ENSP00000507705.1:n.*2739T>G | |
| ENST00000684571.1:c.4368T>G | ENSP00000506935.1:p.Ala1456= | |
| ENST00000684593.1:c.*4232T>G | ENSP00000507005.1:n.*4232T>G | |
| ENST00000684711.1:c.*2923T>G | ENSP00000506841.1:n.*2923T>G | |
| ENST00000302539.9:c.4530T>G | ENSP00000303960.4:p.Ala1510= | |
| ENST00000389817.8:c.4527T>G MANE Select | ENSP00000374467.4:p.Ala1509= | |
| ENST00000642271.1:c.4524T>G | ENSP00000493749.1:p.Ala1508= | |
| ENST00000642579.1:c.2581T>G | ||
| ENST00000642611.1:n.5745T>G | ||
| ENST00000642902.1:c.4309T>G | ||
| ENST00000643260.1:c.4527T>G | ENSP00000494450.1:p.Ala1509= | |
| ENST00000643562.1:c.*2649T>G | ENSP00000496124.1:n.*2649T>G | |
| ENST00000643925.1:c.3167T>G | ||
| ENST00000644057.1:n.686T>G | ||
| ENST00000644484.1:c.*3913T>G | ENSP00000493558.1:n.*3913T>G | |
| ENST00000644675.1:c.*2699T>G | ENSP00000494567.1:n.*2699T>G | |
| ENST00000644757.1:c.*3203-1304T>G | ENSP00000495085.1:n.*3203-1304T>G | |
| ENST00000644772.1:c.4593T>G | ENSP00000494321.1:p.Ala1531= | |
| ENST00000645004.1:n.2220T>G | ||
| ENST00000645076.1:c.3622T>G | ||
| ENST00000645417.1:c.1715T>G | ||
| ENST00000645744.1:c.*4212T>G | ENSP00000494564.1:n.*4212T>G | |
| ENST00000645760.1:c.4948T>G | ||
| ENST00000645884.1:c.*1810T>G | ENSP00000495516.1:n.*1810T>G | |
| ENST00000646003.1:c.*2549T>G | ENSP00000495259.1:n.*2549T>G | |
| ENST00000646207.1:c.*3364T>G | ENSP00000495025.1:n.*3364T>G | |
| ENST00000646276.1:c.*3931T>G | ENSP00000496070.1:n.*3931T>G | |
| ENST00000646592.1:c.3833T>G | ||
| ENST00000646902.1:c.4494T>G | ENSP00000494101.1:p.Ala1498= | |
| ENST00000646993.1:c.*2965T>G | ENSP00000493720.1:n.*2965T>G | |
| ENST00000647015.1:c.4278T>G | ENSP00000495389.1:p.Ala1426= | |
| ENST00000647086.1:c.*4113T>G | ENSP00000493677.1:n.*4113T>G | |
| ENST00000647158.1:c.*2814T>G | ENSP00000495744.1:n.*2814T>G | |
| ENST00000302539.8:c.4530T>G | ENSP00000303960.4:p.Ala1510= | |
| ENST00000389817.7:c.4527T>G | ENSP00000374467.3:p.Ala1509= | |
| ENST00000525022.1:n.422T>G | ||
| ENST00000526037.5:n.287T>G | ||
| ENST00000526168.5:c.315T>G | ||
| ENST00000531642.5:c.558T>G | ||
| NM_000352.4:c.4527T>G | NP_000343.2:p.Ala1509= | |
| NM_001287174.1:c.4530T>G | NP_001274103.1:p.Ala1510= | |
| XM_011520331.1:c.4527T>G | XP_011518633.1:p.Ala1509= | |
| XM_011520332.1:c.4426T>G | XP_011518634.1:p.Phe1476Val | |
| XM_011520333.1:c.3027T>G | XP_011518635.1:p.Ala1009= | |
| XR_930890.1:n.4489T>G | ||
| NM_001351295.1:c.4593T>G | NP_001338224.1:p.Ala1531= | |
| NM_001351296.1:c.4527T>G | NP_001338225.1:p.Ala1509= | |
| NM_001351297.1:c.4524T>G | NP_001338226.1:p.Ala1508= | |
| NR_147094.1:n.4822T>G | ||
| XM_017018197.2:c.4596T>G | XP_016873686.1:p.Ala1532= | |
| XM_017018199.1:c.4593T>G | XP_016873688.1:p.Ala1531= | |
| XM_017018201.2:c.4492T>G | XP_016873690.1:p.Phe1498Val | |
| XM_017018202.1:c.3093T>G | XP_016873691.1:p.Ala1031= | |
| XM_017018204.1:c.2484T>G | XP_016873693.1:p.Ala828= | |
| XM_024448668.1:c.2895T>G | XP_024304436.1:p.Ala965= | |
| XR_001747945.2:n.4564T>G | ||
| XR_001747946.2:n.4495T>G | ||
| XR_002957189.1:n.6278T>G | ||
| NM_000352.6:c.4527T>G MANE Select | NP_000343.2:p.Ala1509= | |
| NM_001287174.2:c.4530T>G | NP_001274103.1:p.Ala1510= | |
| NM_001351295.2:c.4593T>G | NP_001338224.1:p.Ala1531= | |
| NM_001351296.2:c.4527T>G | NP_001338225.1:p.Ala1509= | |
| NM_001351297.2:c.4524T>G | NP_001338226.1:p.Ala1508= | |
| NR_147094.2:n.4822T>G | ||
| NM_001287174.3:c.4530T>G | NP_001274103.1:p.Ala1510= |