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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482168A>T , CM000678.2:g.28482168A>T | GRCh38 |
| NC_000016.9:g.28493489A>T , CM000678.1:g.28493489A>T | GRCh37 |
| NC_000016.8:g.28400990A>T | NCBI36 |
| NG_008654.2:g.15135T>A , LRG_689:g.15135T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333496.14:c.921T>A | ENSP00000329171.9:p.Phe307Leu | |
| ENST00000355477.10:c.849T>A | ENSP00000347660.7:p.Phe283Leu | |
| ENST00000357857.14:c.831T>A | ENSP00000350523.9:p.Phe277Leu | |
| ENST00000359984.12:c.993T>A | ENSP00000353073.9:p.Phe331Leu | |
| ENST00000360019.8:c.921T>A | ENSP00000353116.3:p.Phe307Leu | |
| ENST00000395653.9:c.534T>A | ENSP00000379014.5:p.Phe178Leu | |
| ENST00000561689.6:n.1406T>A | ||
| ENST00000564091.6:c.333T>A | ENSP00000454466.2:p.Phe111Leu | |
| ENST00000565316.6:c.942T>A | ENSP00000456117.1:p.Phe314Leu | |
| ENST00000566824.6:n.1053T>A | ||
| ENST00000567963.6:c.831T>A | ENSP00000455387.2:p.Phe277Leu | |
| ENST00000568076.6:n.1422T>A | ||
| ENST00000568422.6:c.*230T>A | ENSP00000455549.2:n.*230T>A | |
| ENST00000568452.6:n.1224T>A | ||
| ENST00000568497.6:c.24T>A | ENSP00000456414.2:p.Phe8Leu | |
| ENST00000569430.7:c.993T>A | ENSP00000454229.1:p.Phe331Leu | |
| ENST00000628023.3:c.*289T>A | ENSP00000486178.1:n.*289T>A | |
| ENST00000635861.1:c.*645T>A | ENSP00000490034.1:n.*645T>A | |
| ENST00000635887.1:c.993T>A | ENSP00000490709.1:p.Phe331Leu | |
| ENST00000635958.1:n.1278T>A | ||
| ENST00000635973.1:c.744T>A | ENSP00000490363.1:p.Phe248Leu | |
| ENST00000636017.1:c.*517T>A | ENSP00000490538.1:n.*517T>A | |
| ENST00000636078.1:n.1115T>A | ||
| ENST00000636147.2:c.993T>A MANE Select | ENSP00000490105.1:p.Phe331Leu | |
| ENST00000636172.1:c.*517T>A | ENSP00000490505.1:n.*517T>A | |
| ENST00000636228.1:c.687T>A | ENSP00000489627.1:p.Phe229Leu | |
| ENST00000636351.1:n.887T>A | ||
| ENST00000636503.1:c.993T>A | ENSP00000489824.1:p.Phe331Leu | |
| ENST00000636685.1:n.674T>A | ||
| ENST00000636766.1:c.993T>A | ENSP00000489841.1:p.Phe331Leu | |
| ENST00000636839.1:n.1367T>A | ||
| ENST00000636853.1:n.1908T>A | ||
| ENST00000636866.1:c.993T>A | ENSP00000490880.1:p.Phe331Leu | |
| ENST00000636907.1:n.1144T>A | ||
| ENST00000636977.1:n.2363T>A | ||
| ENST00000637050.1:n.1382T>A | ||
| ENST00000637100.1:c.942T>A | ENSP00000490394.1:p.Phe314Leu | |
| ENST00000637107.1:c.*517T>A | ENSP00000490248.1:n.*517T>A | |
| ENST00000637184.1:c.993T>A | ENSP00000489952.1:p.Phe331Leu | |
| ENST00000637299.1:c.*802T>A | ENSP00000489823.1:n.*802T>A | |
| ENST00000637376.1:c.993T>A | ENSP00000490758.1:p.Phe331Leu | |
| ENST00000637378.1:c.165T>A | ENSP00000490831.1:p.Phe55Leu | |
| ENST00000637578.1:c.*517T>A | ENSP00000490206.1:n.*517T>A | |
| ENST00000637699.1:c.904T>A | ENSP00000490049.1:n.904T>A | |
| ENST00000637745.1:c.332T>A | ||
| ENST00000637871.1:c.*691T>A | ENSP00000490670.1:n.*691T>A | |
| ENST00000638036.1:c.155T>A | ||
| ENST00000333496.13:c.921T>A | ENSP00000329171.9:p.Phe307Leu | |
| ENST00000355477.9:c.*230T>A | ENSP00000347660.6:n.*230T>A | |
| ENST00000357806.11:c.696T>A | ENSP00000350457.7:p.Phe232Leu | |
| ENST00000357857.13:c.831T>A | ENSP00000350523.9:p.Phe277Leu | |
| ENST00000359984.11:c.687T>A | ENSP00000353073.8:p.Phe229Leu | |
| ENST00000360019.6:c.993T>A | ENSP00000353116.2:p.Phe331Leu | |
| ENST00000395653.8:c.693T>A | ENSP00000379014.4:p.Phe231Leu | |
| ENST00000561689.5:n.962T>A | ||
| ENST00000563874.5:n.2521T>A | ||
| ENST00000564091.5:c.82T>A | ||
| ENST00000565140.5:c.776T>A | ENSP00000455342.1:n.776T>A | |
| ENST00000565316.5:c.942T>A | ENSP00000456117.1:p.Phe314Leu | |
| ENST00000565354.5:n.306T>A | ||
| ENST00000566057.5:c.607T>A | ENSP00000456693.1:n.607T>A | |
| ENST00000567963.5:c.906+309T>A | ENSP00000455387.1:n.906+309T>A | |
| ENST00000568076.5:n.904T>A | ||
| ENST00000568224.4:c.759T>A | ENSP00000454253.1:p.Phe253Leu | |
| ENST00000568422.5:c.*230T>A | ENSP00000455549.1:n.*230T>A | |
| ENST00000568452.5:n.1121T>A | ||
| ENST00000568472.5:n.473T>A | ||
| ENST00000568558.5:c.534T>A | ENSP00000455603.1:p.Phe178Leu | |
| ENST00000569030.5:c.663T>A | ENSP00000454680.1:p.Phe221Leu | |
| ENST00000569430.5:c.993T>A | ENSP00000454229.1:p.Phe331Leu | |
| ENST00000628023.2:c.*289T>A | ENSP00000486178.1:n.*289T>A | |
| ENST00000631023.2:c.906+309T>A | ENSP00000486616.1:n.906+309T>A | |
| NM_000086.2:c.993T>A , LRG_689t1:c.993T>A | NP_000077.1:p.Phe331Leu | |
| NM_001042432.1:c.993T>A , LRG_689t2:c.993T>A | NP_001035897.1:p.Phe331Leu | |
| NM_001286104.1:c.921T>A | NP_001273033.1:p.Phe307Leu | |
| NM_001286105.1:c.693T>A | NP_001273034.1:p.Phe231Leu | |
| NM_001286109.1:c.759T>A | NP_001273038.1:p.Phe253Leu | |
| NM_001286110.1:c.831T>A | NP_001273039.1:p.Phe277Leu | |
| NM_001042432.2:c.993T>A MANE Select | NP_001035897.1:p.Phe331Leu | |
| NM_001286104.2:c.921T>A | NP_001273033.1:p.Phe307Leu | |
| NM_001286105.2:c.693T>A | NP_001273034.1:p.Phe231Leu | |
| NM_001286109.2:c.759T>A | NP_001273038.1:p.Phe253Leu | |
| NM_001286110.2:c.831T>A | NP_001273039.1:p.Phe277Leu |