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_000023.11:g.111685008C= , CM000685.2:g.111685008C= | GRCh38 |
| NC_000023.10:g.110928236C= , CM000685.1:g.110928236C= | GRCh37 |
| NC_000023.9:g.110814892C= | NCBI36 |
| NG_016238.1:g.8891C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623622.2:c.288C= | ENSP00000485624.2:p.Leu96= | |
| ENST00000699748.1:c.*257C= | ENSP00000514558.1:n.*257C= | |
| ENST00000394780.8:c.288C= MANE Select | ENSP00000378260.3:p.Leu96= | |
| ENST00000636363.1:c.288C= | ENSP00000490681.1:p.Leu96= | |
| ENST00000251943.8:c.-25C= | ENSP00000251943.4:n.-25C= | |
| ENST00000371979.7:c.288C= | ENSP00000361047.3:p.Leu96= | |
| ENST00000394780.7:c.288C= | ENSP00000378260.3:p.Leu96= | |
| ENST00000436609.5:c.-25C= | ENSP00000392990.2:n.-25C= | |
| ENST00000468657.5:c.*257C= | ENSP00000480638.2:n.*257C= | |
| ENST00000470971.5:c.*52C= | ENSP00000479424.2:n.*52C= | |
| ENST00000471924.5:c.365C= | ENSP00000484523.2:n.365C= | |
| ENST00000473389.5:c.288C= | ENSP00000480711.1:p.Leu96= | |
| ENST00000482374.5:c.*153C= | ENSP00000479632.1:n.*153C= | |
| ENST00000482742.5:c.-25C= | ENSP00000477513.1:n.-25C= | |
| ENST00000486353.5:c.288C= | ENSP00000426892.2:p.Leu96= | |
| ENST00000487141.5:c.324C= | ENSP00000478130.1:p.Leu108= | |
| ENST00000489033.5:c.*198C= | ENSP00000482257.2:n.*198C= | |
| ENST00000492038.5:c.*52C= | ENSP00000479483.1:n.*52C= | |
| ENST00000495283.5:c.*153C= | ENSP00000427093.3:n.*153C= | |
| ENST00000610588.4:c.54C= | ENSP00000479731.1:p.Leu18= | |
| ENST00000621367.4:c.-25C= | ENSP00000481509.1:n.-25C= | |
| ENST00000622986.3:c.288C= | ENSP00000485067.1:p.Leu96= | |
| ENST00000622997.3:c.*257C= | ENSP00000485420.1:n.*257C= | |
| ENST00000623144.3:c.*257C= | ENSP00000485279.1:n.*257C= | |
| ENST00000623148.3:c.306C= | ENSP00000485658.1:n.306C= | |
| ENST00000623189.1:c.-25C= | ENSP00000485392.1:n.-25C= | |
| ENST00000623255.1:c.279C= | ENSP00000485333.1:p.Leu93= | |
| ENST00000624161.3:c.*52C= | ENSP00000485181.1:n.*52C= | |
| ENST00000624881.3:c.229C= | ENSP00000485093.1:p.Arg77= | |
| NM_001039210.3:c.229C= | NP_001034299.3:p.Arg77= | |
| NM_001099922.2:c.288C= | NP_001093392.1:p.Leu96= | |
| NM_001168385.1:c.288C= | NP_001161857.1:p.Leu96= | |
| NM_001257230.1:c.-25C= | NP_001244159.1:n.-25C= | |
| NM_001257231.1:c.54C= | NP_001244160.1:p.Leu18= | |
| NM_001257234.1:c.-25C= | NP_001244163.1:n.-25C= | |
| NM_001257235.1:c.-25C= | NP_001244164.1:n.-25C= | |
| NM_001257237.1:c.-25C= | NP_001244166.1:n.-25C= | |
| NM_001257239.1:c.-25C= | NP_001244168.1:n.-25C= | |
| NM_001257240.1:c.-25C= | NP_001244169.1:n.-25C= | |
| NM_001257241.1:c.54C= | NP_001244170.1:p.Leu18= | |
| NM_018466.4:c.288C= | NP_060936.1:p.Leu96= | |
| NR_033125.1:n.285C= | ||
| XM_005262191.3:c.-25C= | XP_005262248.1:n.-25C= | |
| XM_006724693.2:c.288C= | XP_006724756.1:p.Leu96= | |
| XM_006724695.2:c.288C= | XP_006724758.1:p.Leu96= | |
| XM_006724697.2:c.-25C= | XP_006724760.2:n.-25C= | |
| XM_006724698.2:c.-25C= | XP_006724761.2:n.-25C= | |
| XM_011531028.1:c.288C= | XP_011529330.1:p.Leu96= | |
| XM_011531029.1:c.288C= | XP_011529331.1:p.Leu96= | |
| XM_011531030.1:c.288C= | XP_011529332.1:p.Leu96= | |
| XM_011531031.1:c.-25C= | XP_011529333.1:n.-25C= | |
| XM_011531032.1:c.-25C= | XP_011529334.1:n.-25C= | |
| XM_011531033.1:c.-25C= | XP_011529335.1:n.-25C= | |
| XR_938409.1:n.761C= | ||
| NM_001039210.4:c.229C= | NP_001034299.3:p.Arg77= | |
| NM_001168385.2:c.288C= | NP_001161857.1:p.Leu96= | |
| NM_001257235.2:c.-25C= | NP_001244164.1:n.-25C= | |
| NM_001257239.2:c.-25C= | NP_001244168.1:n.-25C= | |
| NM_001257240.2:c.-25C= | NP_001244169.1:n.-25C= | |
| NM_001257241.2:c.54C= | NP_001244170.1:p.Leu18= | |
| NM_001324290.1:c.294C= | NP_001311219.1:p.Leu98= | |
| NM_001324291.1:c.-25C= | NP_001311220.1:n.-25C= | |
| NM_001324292.1:c.288C= | NP_001311221.1:p.Leu96= | |
| NM_001324293.1:c.-25C= | NP_001311222.1:n.-25C= | |
| NM_001324294.1:c.-25C= | NP_001311223.1:n.-25C= | |
| NM_018466.5:c.288C= | NP_060936.1:p.Leu96= | |
| NR_033125.2:n.285C= | ||
| NR_136735.1:n.358C= | ||
| NR_148693.1:n.389C= | ||
| XM_006724693.3:c.288C= | XP_006724756.1:p.Leu96= | |
| XM_006724697.3:c.-25C= | XP_006724760.2:n.-25C= | |
| XM_006724698.3:c.-25C= | XP_006724761.2:n.-25C= | |
| XM_011531028.2:c.288C= | XP_011529330.1:p.Leu96= | |
| XM_011531030.2:c.288C= | XP_011529332.1:p.Leu96= | |
| XM_011531033.3:c.-25C= | XP_011529335.1:n.-25C= | |
| XM_017029846.1:c.288C= | XP_016885335.1:p.Leu96= | |
| XM_017029847.1:c.288C= | XP_016885336.1:p.Leu96= | |
| XM_017029848.1:c.288C= | XP_016885337.1:p.Leu96= | |
| XM_017029849.1:c.288C= | XP_016885338.1:p.Leu96= | |
| XM_017029850.2:c.288C= | XP_016885339.1:p.Leu96= | |
| XM_017029851.1:c.-423C= | XP_016885340.1:n.-423C= | |
| XM_024452449.1:c.288C= | XP_024308217.1:p.Leu96= | |
| XR_001755726.1:n.328C= | ||
| XR_001755727.1:n.328C= | ||
| XR_001755728.1:n.328C= | ||
| NM_001039210.5:c.229C= | NP_001034299.3:p.Arg77= | |
| NM_001099922.3:c.288C= MANE Select | NP_001093392.1:p.Leu96= | |
| NM_001168385.3:c.288C= | NP_001161857.1:p.Leu96= | |
| NM_001257230.2:c.-25C= | NP_001244159.1:n.-25C= | |
| NM_001257235.3:c.-25C= | NP_001244164.1:n.-25C= | |
| NM_001257239.3:c.-25C= | NP_001244168.1:n.-25C= | |
| NM_001257240.3:c.-25C= | NP_001244169.1:n.-25C= | |
| NM_001257241.3:c.54C= | NP_001244170.1:p.Leu18= | |
| NM_001324290.2:c.294C= | NP_001311219.1:p.Leu98= | |
| NM_001324291.2:c.-25C= | NP_001311220.1:n.-25C= | |
| NM_001324292.2:c.288C= | NP_001311221.1:p.Leu96= | |
| NM_001324294.2:c.-25C= | NP_001311223.1:n.-25C= | |
| NM_018466.6:c.288C= | NP_060936.1:p.Leu96= | |
| NR_033125.3:n.233C= | ||
| NR_136735.2:n.358C= | ||
| NR_148693.2:n.337C= | ||
| NM_001257231.2:c.54C= | NP_001244160.1:p.Leu18= | |
| NM_001257234.2:c.-25C= | NP_001244163.1:n.-25C= | |
| NM_001257237.2:c.-25C= | NP_001244166.1:n.-25C= |