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_000010.11:g.76891709T>C , CM000672.2:g.76891709T>C | GRCh38 |
| NC_000010.10:g.78651467T>C , CM000672.1:g.78651467T>C | GRCh37 |
| NC_000010.9:g.78321473T>C | NCBI36 |
| NG_012270.1:g.751111A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707137.1:c.2701A>G (KCNMA1) | ||
| ENST00000286627.10:c.2984A>G (KCNMA1) | ENSP00000286627.5:p.Asn995Ser | |
| ENST00000286628.14:c.3158A>G (KCNMA1) MANE Select | ENSP00000286628.8:p.Asn1053Ser | |
| ENST00000372403.9:c.2870A>G (KCNMA1) | ENSP00000361480.4:p.Asn957Ser | |
| ENST00000372408.7:c.2879A>G (KCNMA1) | ENSP00000361485.3:p.Asn960Ser | |
| ENST00000372421.10:c.2998A>G (KCNMA1) | ||
| ENST00000372437.6:c.2990A>G (KCNMA1) | ENSP00000361514.2:p.Asn997Ser | |
| ENST00000372440.6:c.2993A>G (KCNMA1) | ENSP00000361517.2:p.Asn998Ser | |
| ENST00000372443.6:c.3077A>G (KCNMA1) | ENSP00000361520.2:p.Asn1026Ser | |
| ENST00000404771.8:c.3158A>G (KCNMA1) | ENSP00000385717.3:p.Asn1053Ser | |
| ENST00000404857.6:c.2876A>G (KCNMA1) | ENSP00000385806.3:p.Asn959Ser | |
| ENST00000434208.6:c.3071A>G (KCNMA1) | ENSP00000402150.2:p.Asn1024Ser | |
| ENST00000457953.6:c.3158A>G (KCNMA1) | ENSP00000396608.2:p.Asn1053Ser | |
| ENST00000604624.6:c.2579A>G (KCNMA1) | ENSP00000473714.2:p.Asn860Ser | |
| ENST00000626620.3:c.3107A>G (KCNMA1) | ENSP00000485867.1:p.Asn1036Ser | |
| ENST00000638203.1:c.2984A>G (KCNMA1) | ENSP00000491123.1:p.Asn995Ser | |
| ENST00000638223.1:c.3086A>G (KCNMA1) | ENSP00000492492.1:p.Asn1029Ser | |
| ENST00000638252.1:c.2807A>G (KCNMA1) | ENSP00000492178.1:p.Asn936Ser | |
| ENST00000638283.1:c.2786A>G (KCNMA1) | ENSP00000491300.1:p.Asn929Ser | |
| ENST00000638306.1:c.2984A>G (KCNMA1) | ENSP00000491008.1:p.Asn995Ser | |
| ENST00000638351.1:c.2993A>G (KCNMA1) | ENSP00000491156.1:p.Asn998Ser | |
| ENST00000638514.1:c.3116A>G (KCNMA1) | ENSP00000491840.1:p.Asn1039Ser | |
| ENST00000638575.1:c.3167A>G (KCNMA1) | ENSP00000492049.1:p.Asn1056Ser | |
| ENST00000638606.1:c.2996A>G (KCNMA1) | ENSP00000491981.1:p.Asn999Ser | |
| ENST00000638632.1:n.7347A>G (KCNMA1) | ||
| ENST00000638751.1:c.2409A>G (KCNMA1) | ENSP00000492172.1:n.2409A>G | |
| ENST00000638754.1:c.2510A>G (KCNMA1) | ENSP00000491166.1:p.Asn837Ser | |
| ENST00000638759.1:c.3170A>G (KCNMA1) | ENSP00000492632.1:p.Asn1057Ser | |
| ENST00000638848.1:c.3170A>G (KCNMA1) | ENSP00000492414.1:p.Asn1057Ser | |
| ENST00000638895.1:c.2961A>G (KCNMA1) | ||
| ENST00000638991.1:c.2993A>G (KCNMA1) | ENSP00000490978.1:p.Asn998Ser | |
| ENST00000638999.1:n.2169A>G (KCNMA1) | ||
| ENST00000639069.1:n.2701A>G (KCNMA1) | ||
| ENST00000639090.1:c.2984A>G (KCNMA1) | ENSP00000491673.1:p.Asn995Ser | |
| ENST00000639205.1:c.2879A>G (KCNMA1) | ENSP00000492718.1:p.Asn960Ser | |
| ENST00000639321.1:n.1905A>G (KCNMA1) | ||
| ENST00000639344.1:c.2845A>G (KCNMA1) | ||
| ENST00000639370.1:c.3012A>G (KCNMA1) | ||
| ENST00000639406.1:c.3074A>G (KCNMA1) | ENSP00000491732.1:p.Asn1025Ser | |
| ENST00000639483.1:c.*1680A>G (KCNMA1) | ENSP00000492406.1:n.*1680A>G | |
| ENST00000639486.1:c.2984A>G (KCNMA1) | ENSP00000492005.1:p.Asn995Ser | |
| ENST00000639489.1:c.2996A>G (KCNMA1) | ENSP00000491927.1:p.Asn999Ser | |
| ENST00000639498.1:c.2879A>G (KCNMA1) | ENSP00000492835.1:p.Asn960Ser | |
| ENST00000639544.1:c.3158A>G (KCNMA1) | ENSP00000492075.1:p.Asn1053Ser | |
| ENST00000639591.1:c.3167A>G (KCNMA1) | ENSP00000492793.1:p.Asn1056Ser | |
| ENST00000639601.1:c.2984A>G (KCNMA1) | ENSP00000492806.1:p.Asn995Ser | |
| ENST00000639657.1:n.3067A>G (KCNMA1) | ||
| ENST00000639691.1:c.2326A>G (KCNMA1) | ||
| ENST00000639716.1:c.1175A>G (KCNMA1) | ENSP00000491131.1:p.Asn392Ser | |
| ENST00000639730.1:c.2350A>G (KCNMA1) | ||
| ENST00000639823.1:c.2888A>G (KCNMA1) | ENSP00000490982.1:p.Asn963Ser | |
| ENST00000639851.1:n.3208A>G (KCNMA1) | ||
| ENST00000639913.1:c.3074A>G (KCNMA1) | ENSP00000492241.1:p.Asn1025Ser | |
| ENST00000639968.1:c.*2002A>G (KCNMA1) | ENSP00000491723.1:n.*2002A>G | |
| ENST00000639995.1:c.2640A>G (KCNMA1) | ENSP00000491902.1:n.2640A>G | |
| ENST00000640029.1:c.2984A>G (KCNMA1) | ENSP00000491463.1:p.Asn995Ser | |
| ENST00000640093.1:c.2881A>G (KCNMA1) | ENSP00000492224.1:n.2881A>G | |
| ENST00000640141.1:c.2993A>G (KCNMA1) | ENSP00000491418.1:p.Asn998Ser | |
| ENST00000640182.1:c.2996A>G (KCNMA1) | ENSP00000492510.1:p.Asn999Ser | |
| ENST00000640353.1:c.2415A>G (KCNMA1) | ||
| ENST00000640523.1:c.3179A>G (KCNMA1) | ENSP00000491795.1:p.Asn1060Ser | |
| ENST00000640570.1:n.2688A>G (KCNMA1) | ||
| ENST00000640605.1:c.3005A>G (KCNMA1) | ENSP00000491435.1:p.Asn1002Ser | |
| ENST00000640626.1:c.2636A>G (KCNMA1) | ENSP00000491545.1:p.Asn879Ser | |
| ENST00000640773.1:c.3006A>G (KCNMA1) | ||
| ENST00000640807.1:c.2834A>G (KCNMA1) | ENSP00000491555.1:p.Asn945Ser | |
| ENST00000640834.1:c.2984A>G (KCNMA1) | ENSP00000491920.1:p.Asn995Ser | |
| ENST00000640934.1:c.2975A>G (KCNMA1) | ENSP00000491539.1:p.Asn992Ser | |
| ENST00000640969.1:c.3071A>G (KCNMA1) | ENSP00000492200.1:p.Asn1024Ser | |
| ENST00000286627.9:c.2984A>G (KCNMA1) | ENSP00000286627.5:p.Asn995Ser | |
| ENST00000286628.12:c.3158A>G (KCNMA1) | ENSP00000286628.8:p.Asn1053Ser | |
| ENST00000354353.9:c.2663A>G (KCNMA1) | ENSP00000346321.6:p.Asn888Ser | |
| ENST00000372403.8:c.2836A>G (KCNMA1) | ||
| ENST00000372408.6:c.2795A>G (KCNMA1) | ENSP00000361485.2:p.Asn932Ser | |
| ENST00000372421.9:c.2904A>G (KCNMA1) | ||
| ENST00000372437.5:c.2963A>G (KCNMA1) | ENSP00000361514.1:p.Asn988Ser | |
| ENST00000372440.5:c.2984A>G (KCNMA1) | ENSP00000361517.1:p.Asn995Ser | |
| ENST00000372443.5:c.3065A>G (KCNMA1) | ENSP00000361520.1:p.Asn1022Ser | |
| ENST00000404771.7:c.3158A>G (KCNMA1) | ENSP00000385717.3:p.Asn1053Ser | |
| ENST00000404857.5:c.2492A>G (KCNMA1) | ENSP00000385806.2:p.Asn831Ser | |
| ENST00000406533.7:c.2570A>G (KCNMA1) | ENSP00000385552.4:p.Asn857Ser | |
| ENST00000434208.5:c.2106A>G (KCNMA1) | ||
| ENST00000457953.5:c.3080A>G (KCNMA1) | ENSP00000396608.1:p.Asn1027Ser | |
| ENST00000604624.5:c.2579A>G (KCNMA1) | ENSP00000473714.1:p.Asn860Ser | |
| ENST00000626620.2:c.3107A>G (KCNMA1) | ENSP00000485867.1:p.Asn1036Ser | |
| NM_001014797.2:c.2996A>G (KCNMA1) | NP_001014797.1:p.Asn999Ser | |
| NM_001161352.1:c.3158A>G (KCNMA1) | NP_001154824.1:p.Asn1053Ser | |
| NM_001161353.1:c.3107A>G (KCNMA1) | NP_001154825.1:p.Asn1036Ser | |
| NM_001271518.1:c.2834A>G (KCNMA1) | NP_001258447.1:p.Asn945Ser | |
| NM_001271519.1:c.3074A>G (KCNMA1) | NP_001258448.1:p.Asn1025Ser | |
| NM_002247.3:c.2984A>G (KCNMA1) | NP_002238.2:p.Asn995Ser | |
| NR_120655.1:n.238+3428T>C (KCNMA1-AS1) | ||
| XM_005269776.2:c.3065A>G (KCNMA1) | XP_005269833.1:p.Asn1022Ser | |
| XM_005269778.1:c.3170A>G (KCNMA1) | XP_005269835.1:p.Asn1057Ser | |
| XM_005269781.1:c.3158A>G (KCNMA1) | XP_005269838.1:p.Asn1053Ser | |
| XM_005269787.2:c.2984A>G (KCNMA1) | XP_005269844.1:p.Asn995Ser | |
| XM_005269789.1:c.3077A>G (KCNMA1) | XP_005269846.1:p.Asn1026Ser | |
| XM_005269792.1:c.3071A>G (KCNMA1) | XP_005269849.1:p.Asn1024Ser | |
| XM_005269796.1:c.2984A>G (KCNMA1) | XP_005269853.1:p.Asn995Ser | |
| XM_005269797.1:c.2984A>G (KCNMA1) | XP_005269854.1:p.Asn995Ser | |
| XM_006717826.1:c.3065A>G (KCNMA1) | XP_006717889.1:p.Asn1022Ser | |
| XM_011539773.1:c.3302A>G (KCNMA1) | XP_011538075.1:p.Asn1101Ser | |
| XM_011539774.1:c.3296A>G (KCNMA1) | XP_011538076.1:p.Asn1099Ser | |
| XM_011539775.1:c.3290A>G (KCNMA1) | XP_011538077.1:p.Asn1097Ser | |
| XM_011539776.1:c.3290A>G (KCNMA1) | XP_011538078.1:p.Asn1097Ser | |
| XM_011539777.1:c.3251A>G (KCNMA1) | XP_011538079.1:p.Asn1084Ser | |
| XM_011539778.1:c.3239A>G (KCNMA1) | XP_011538080.1:p.Asn1080Ser | |
| XM_011539779.1:c.3203A>G (KCNMA1) | XP_011538081.1:p.Asn1068Ser | |
| XM_011539780.1:c.3170A>G (KCNMA1) | XP_011538082.1:p.Asn1057Ser | |
| XM_011539781.1:c.3128A>G (KCNMA1) | XP_011538083.1:p.Asn1043Ser | |
| XM_011539782.1:c.3116A>G (KCNMA1) | XP_011538084.1:p.Asn1039Ser | |
| XM_011539783.1:c.3083A>G (KCNMA1) | XP_011538085.1:p.Asn1028Ser | |
| XM_011539785.1:c.3074A>G (KCNMA1) | XP_011538087.1:p.Asn1025Ser | |
| NM_001322829.1:c.2993A>G (KCNMA1) | NP_001309758.1:p.Asn998Ser | |
| NM_001322830.1:c.3086A>G (KCNMA1) | NP_001309759.1:p.Asn1029Ser | |
| NM_001322832.1:c.2984A>G (KCNMA1) | NP_001309761.1:p.Asn995Ser | |
| NM_001322835.1:c.3077A>G (KCNMA1) | NP_001309764.1:p.Asn1026Ser | |
| NM_001322836.1:c.2993A>G (KCNMA1) | NP_001309765.1:p.Asn998Ser | |
| NM_001322837.1:c.3077A>G (KCNMA1) | NP_001309766.1:p.Asn1026Ser | |
| NM_001322838.1:c.2531A>G (KCNMA1) | NP_001309767.1:p.Asn844Ser | |
| XM_005269776.4:c.3065A>G (KCNMA1) | XP_005269833.1:p.Asn1022Ser | |
| XM_005269778.2:c.3170A>G (KCNMA1) | XP_005269835.1:p.Asn1057Ser | |
| XM_005269781.2:c.3158A>G (KCNMA1) | XP_005269838.1:p.Asn1053Ser | |
| XM_005269787.4:c.2984A>G (KCNMA1) | XP_005269844.1:p.Asn995Ser | |
| XM_005269789.2:c.3077A>G (KCNMA1) | XP_005269846.1:p.Asn1026Ser | |
| XM_005269792.2:c.3071A>G (KCNMA1) | XP_005269849.1:p.Asn1024Ser | |
| XM_005269796.2:c.2984A>G (KCNMA1) | XP_005269853.1:p.Asn995Ser | |
| XM_006717826.2:c.3065A>G (KCNMA1) | XP_006717889.1:p.Asn1022Ser | |
| XM_011539773.2:c.3302A>G (KCNMA1) | XP_011538075.1:p.Asn1101Ser | |
| XM_011539774.2:c.3296A>G (KCNMA1) | XP_011538076.1:p.Asn1099Ser | |
| XM_011539775.2:c.3290A>G (KCNMA1) | XP_011538077.1:p.Asn1097Ser | |
| XM_011539777.2:c.3251A>G (KCNMA1) | XP_011538079.1:p.Asn1084Ser | |
| XM_011539778.2:c.3239A>G (KCNMA1) | XP_011538080.1:p.Asn1080Ser | |
| XM_011539779.2:c.3203A>G (KCNMA1) | XP_011538081.1:p.Asn1068Ser | |
| XM_011539780.2:c.3170A>G (KCNMA1) | XP_011538082.1:p.Asn1057Ser | |
| XM_011539781.3:c.3128A>G (KCNMA1) | XP_011538083.1:p.Asn1043Ser | |
| XM_011539782.2:c.3116A>G (KCNMA1) | XP_011538084.1:p.Asn1039Ser | |
| XM_011539783.2:c.3083A>G (KCNMA1) | XP_011538085.1:p.Asn1028Ser | |
| XM_011539785.2:c.3074A>G (KCNMA1) | XP_011538087.1:p.Asn1025Ser | |
| XM_017016207.2:c.3383A>G (KCNMA1) | XP_016871696.1:p.Asn1128Ser | |
| XM_017016208.2:c.3383A>G (KCNMA1) | XP_016871697.1:p.Asn1128Ser | |
| XM_017016209.2:c.3371A>G (KCNMA1) | XP_016871698.1:p.Asn1124Ser | |
| XM_017016210.2:c.3302A>G (KCNMA1) | XP_016871699.1:p.Asn1101Ser | |
| XM_017016211.2:c.3215A>G (KCNMA1) | XP_016871700.1:p.Asn1072Ser | |
| XM_017016212.2:c.3209A>G (KCNMA1) | XP_016871701.1:p.Asn1070Ser | |
| XM_017016213.2:c.3203A>G (KCNMA1) | XP_016871702.1:p.Asn1068Ser | |
| XM_017016214.2:c.3197A>G (KCNMA1) | XP_016871703.1:p.Asn1066Ser | |
| XM_017016215.2:c.3164A>G (KCNMA1) | XP_016871704.1:p.Asn1055Ser | |
| XM_017016217.1:c.3116A>G (KCNMA1) | XP_016871706.1:p.Asn1039Ser | |
| XM_017016218.1:c.2423A>G (KCNMA1) | XP_016871707.1:p.Asn808Ser | |
| XM_017016222.2:c.2984A>G (KCNMA1) | XP_016871711.2:p.Asn995Ser | |
| XM_017016223.1:c.2531A>G (KCNMA1) | XP_016871712.1:p.Asn844Ser | |
| XM_024447984.1:c.3158A>G (KCNMA1) | XP_024303752.1:p.Asn1053Ser | |
| XM_024447985.1:c.2996A>G (KCNMA1) | XP_024303753.1:p.Asn999Ser | |
| XM_024447986.1:c.2777A>G (KCNMA1) | XP_024303754.1:p.Asn926Ser | |
| XM_024447987.1:c.3158A>G (KCNMA1) | XP_024303755.1:p.Asn1053Ser | |
| XM_024447988.1:c.2996A>G (KCNMA1) | XP_024303756.1:p.Asn999Ser | |
| XM_024447989.1:c.2996A>G (KCNMA1) | XP_024303757.1:p.Asn999Ser | |
| XM_024447990.1:c.2984A>G (KCNMA1) | XP_024303758.1:p.Asn995Ser | |
| NM_001161352.2:c.3158A>G (KCNMA1) MANE Select | NP_001154824.1:p.Asn1053Ser | |
| NM_001014797.3:c.2996A>G (KCNMA1) | NP_001014797.1:p.Asn999Ser | |
| NM_001161353.2:c.3107A>G (KCNMA1) | NP_001154825.1:p.Asn1036Ser | |
| NM_001271518.2:c.2834A>G (KCNMA1) | NP_001258447.1:p.Asn945Ser | |
| NM_001271519.2:c.3074A>G (KCNMA1) | NP_001258448.1:p.Asn1025Ser | |
| NM_001322829.2:c.2993A>G (KCNMA1) | NP_001309758.1:p.Asn998Ser | |
| NM_001322830.2:c.3086A>G (KCNMA1) | NP_001309759.1:p.Asn1029Ser | |
| NM_001322832.2:c.2984A>G (KCNMA1) | NP_001309761.1:p.Asn995Ser | |
| NM_001322835.2:c.3077A>G (KCNMA1) | NP_001309764.1:p.Asn1026Ser | |
| NM_001322836.2:c.2993A>G (KCNMA1) | NP_001309765.1:p.Asn998Ser | |
| NM_001322837.2:c.3077A>G (KCNMA1) | NP_001309766.1:p.Asn1026Ser | |
| NM_002247.4:c.2984A>G (KCNMA1) | NP_002238.2:p.Asn995Ser | |
| NM_001322838.2:c.2531A>G (KCNMA1) | NP_001309767.1:p.Asn844Ser |