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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28484037G= , CM000678.2:g.28484037G= | GRCh38 |
| NC_000016.9:g.28495358G= , CM000678.1:g.28495358G= | GRCh37 |
| NC_000016.8:g.28402859G= | NCBI36 |
| NG_008654.2:g.13266C= , LRG_689:g.13266C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333496.14:c.687C= | ENSP00000329171.9:p.Leu229= | |
| ENST00000355477.10:c.615C= | ENSP00000347660.7:p.Leu205= | |
| ENST00000357857.14:c.597C= | ENSP00000350523.9:p.Leu199= | |
| ENST00000359984.12:c.759C= | ENSP00000353073.9:p.Leu253= | |
| ENST00000360019.8:c.687C= | ENSP00000353116.3:p.Leu229= | |
| ENST00000395653.9:c.300C= | ENSP00000379014.5:p.Leu100= | |
| ENST00000561689.6:n.1044C= | ||
| ENST00000564091.6:c.99C= | ENSP00000454466.2:p.Leu33= | |
| ENST00000565316.6:c.759C= | ENSP00000456117.1:p.Leu253= | |
| ENST00000565778.6:c.390C= | ENSP00000458015.1:p.Leu130= | |
| ENST00000566083.6:n.1217C= | ||
| ENST00000566824.6:n.739C= | ||
| ENST00000567963.6:c.597C= | ENSP00000455387.2:p.Leu199= | |
| ENST00000568076.6:n.886C= | ||
| ENST00000568422.6:c.542C= | ENSP00000455549.2:p.Ser181= | |
| ENST00000568452.6:n.862C= | ||
| ENST00000568472.6:n.635C= | ||
| ENST00000568497.6:c.-211C= | ENSP00000456414.2:n.-211C= | |
| ENST00000568558.6:c.462C= | ENSP00000455603.2:p.Leu154= | |
| ENST00000569430.7:c.759C= | ENSP00000454229.1:p.Leu253= | |
| ENST00000628023.3:c.*55C= | ENSP00000486178.1:n.*55C= | |
| ENST00000635861.1:c.*283C= | ENSP00000490034.1:n.*283C= | |
| ENST00000635887.1:c.759C= | ENSP00000490709.1:p.Leu253= | |
| ENST00000635958.1:n.870C= | ||
| ENST00000635973.1:c.510C= | ENSP00000490363.1:p.Leu170= | |
| ENST00000636017.1:c.*283C= | ENSP00000490538.1:n.*283C= | |
| ENST00000636078.1:n.801C= | ||
| ENST00000636147.2:c.759C= MANE Select | ENSP00000490105.1:p.Leu253= | |
| ENST00000636172.1:c.*283C= | ENSP00000490505.1:n.*283C= | |
| ENST00000636228.1:c.453C= | ENSP00000489627.1:p.Leu151= | |
| ENST00000636351.1:n.479C= | ||
| ENST00000636503.1:c.759C= | ENSP00000489824.1:p.Leu253= | |
| ENST00000636685.1:n.266C= | ||
| ENST00000636766.1:c.759C= | ENSP00000489841.1:p.Leu253= | |
| ENST00000636839.1:n.911C= | ||
| ENST00000636853.1:n.1674C= | ||
| ENST00000636866.1:c.759C= | ENSP00000490880.1:p.Leu253= | |
| ENST00000636907.1:n.910C= | ||
| ENST00000636977.1:n.1827C= | ||
| ENST00000637050.1:n.846C= | ||
| ENST00000637100.1:c.759C= | ENSP00000490394.1:p.Leu253= | |
| ENST00000637107.1:c.*283C= | ENSP00000490248.1:n.*283C= | |
| ENST00000637184.1:c.759C= | ENSP00000489952.1:p.Leu253= | |
| ENST00000637299.1:c.*568C= | ENSP00000489823.1:n.*568C= | |
| ENST00000637376.1:c.759C= | ENSP00000490758.1:p.Leu253= | |
| ENST00000637578.1:c.*283C= | ENSP00000490206.1:n.*283C= | |
| ENST00000637699.1:c.542C= | ENSP00000490049.1:p.Ser181= | |
| ENST00000637745.1:c.98C= | ||
| ENST00000637871.1:c.*283C= | ENSP00000490670.1:n.*283C= | |
| ENST00000333496.13:c.687C= | ENSP00000329171.9:p.Leu229= | |
| ENST00000355477.9:c.542C= | ENSP00000347660.6:p.Ser181= | |
| ENST00000357806.11:c.462C= | ENSP00000350457.7:p.Leu154= | |
| ENST00000357857.13:c.597C= | ENSP00000350523.9:p.Leu199= | |
| ENST00000359984.11:c.453C= | ENSP00000353073.8:p.Leu151= | |
| ENST00000360019.6:c.759C= | ENSP00000353116.2:p.Leu253= | |
| ENST00000395653.8:c.459C= | ENSP00000379014.4:p.Leu153= | |
| ENST00000561689.5:n.600C= | ||
| ENST00000563874.5:n.2113C= | ||
| ENST00000564574.5:n.807C= | ||
| ENST00000565047.1:n.353C= | ||
| ENST00000565140.5:c.542C= | ENSP00000455342.1:p.Ser181= | |
| ENST00000565316.5:c.759C= | ENSP00000456117.1:p.Leu253= | |
| ENST00000565688.5:c.510C= | ENSP00000456122.1:p.Leu170= | |
| ENST00000565778.5:c.390C= | ENSP00000458015.1:p.Leu130= | |
| ENST00000566057.5:c.373C= | ENSP00000456693.1:n.373C= | |
| ENST00000566083.5:n.990C= | ||
| ENST00000566824.5:n.808C= | ||
| ENST00000567495.5:c.542C= | ENSP00000456013.1:p.Ser181= | |
| ENST00000567963.5:c.759C= | ENSP00000455387.1:p.Leu253= | |
| ENST00000568076.5:n.542C= | ||
| ENST00000568224.4:c.525C= | ENSP00000454253.1:p.Leu175= | |
| ENST00000568422.5:c.395C= | ENSP00000455549.1:p.Ser132= | |
| ENST00000568452.5:n.759C= | ||
| ENST00000568472.5:n.239C= | ||
| ENST00000568497.5:c.*55C= | ENSP00000456414.1:n.*55C= | |
| ENST00000568558.5:c.300C= | ENSP00000455603.1:p.Leu100= | |
| ENST00000569030.5:c.461-1365C= | ENSP00000454680.1:n.461-1365C= | |
| ENST00000569430.5:c.759C= | ENSP00000454229.1:p.Leu253= | |
| ENST00000628023.2:c.*55C= | ENSP00000486178.1:n.*55C= | |
| ENST00000631023.2:c.759C= | ENSP00000486616.1:p.Leu253= | |
| NM_000086.2:c.759C= , LRG_689t1:c.759C= | NP_000077.1:p.Leu253= | |
| NM_001042432.1:c.759C= , LRG_689t2:c.759C= | NP_001035897.1:p.Leu253= | |
| NM_001286104.1:c.687C= | NP_001273033.1:p.Leu229= | |
| NM_001286105.1:c.459C= | NP_001273034.1:p.Leu153= | |
| NM_001286109.1:c.525C= | NP_001273038.1:p.Leu175= | |
| NM_001286110.1:c.597C= | NP_001273039.1:p.Leu199= | |
| NM_001042432.2:c.759C= MANE Select | NP_001035897.1:p.Leu253= | |
| NM_001286104.2:c.687C= | NP_001273033.1:p.Leu229= | |
| NM_001286105.2:c.459C= | NP_001273034.1:p.Leu153= | |
| NM_001286109.2:c.525C= | NP_001273038.1:p.Leu175= | |
| NM_001286110.2:c.597C= | NP_001273039.1:p.Leu199= |