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_000006.12:g.152151996A>C , CM000668.2:g.152151996A>C | GRCh38 |
| NC_000006.11:g.152473131A>C , CM000668.1:g.152473131A>C | GRCh37 |
| NC_000006.10:g.152514824A>C | NCBI36 |
| NG_012855.1:g.490404T>G | |
| NG_012855.2:g.490404T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.740T>G MANE Plus Clinical | ENSP00000346701.4:p.Leu247Arg | |
| ENST00000367255.10:c.24275T>G MANE Select | ENSP00000356224.5:p.Leu8092Arg | |
| ENST00000423061.6:c.24062T>G | ENSP00000396024.1:p.Leu8021Arg | |
| ENST00000672169.1:c.10T>G | ||
| ENST00000673173.1:c.189T>G | ||
| ENST00000673451.1:c.47T>G | ENSP00000500189.1:p.Leu16Arg | |
| ENST00000341594.9:c.23060T>G | ENSP00000341887.6:p.Leu7687Arg | |
| ENST00000347037.9:n.954T>G | ||
| ENST00000354674.4:c.740T>G | ENSP00000346701.4:p.Leu247Arg | |
| ENST00000367251.7:c.3041T>G | ENSP00000356220.3:p.Leu1014Arg | |
| ENST00000367255.9:c.24275T>G | ENSP00000356224.5:p.Leu8092Arg | |
| ENST00000367256.9:n.7967T>G | ||
| ENST00000367257.8:c.2213T>G | ENSP00000356226.4:p.Leu738Arg | |
| ENST00000409694.6:n.7859T>G | ||
| ENST00000423061.5:c.24062T>G | ENSP00000396024.1:p.Leu8021Arg | |
| ENST00000460912.6:n.820T>G | ||
| ENST00000476519.1:n.337T>G | ||
| ENST00000536990.5:n.1112T>G | ||
| ENST00000539504.5:c.740T>G | ENSP00000441052.1:p.Leu247Arg | |
| NM_033071.3:c.24062T>G | NP_149062.1:p.Leu8021Arg | |
| NM_182961.3:c.24275T>G | NP_892006.3:p.Leu8092Arg | |
| XM_006715407.1:c.24311T>G | XP_006715470.1:p.Leu8104Arg | |
| XM_006715408.1:c.24299T>G | XP_006715471.1:p.Leu8100Arg | |
| XM_006715409.1:c.24290T>G | XP_006715472.1:p.Leu8097Arg | |
| XM_006715410.1:c.24311T>G | XP_006715473.1:p.Leu8104Arg | |
| XM_006715411.1:c.24260T>G | XP_006715474.1:p.Leu8087Arg | |
| XM_006715412.1:c.24296T>G | XP_006715475.1:p.Leu8099Arg | |
| XM_006715413.1:c.24311T>G | XP_006715476.1:p.Leu8104Arg | |
| XM_006715414.1:c.24239T>G | XP_006715477.1:p.Leu8080Arg | |
| XM_006715415.1:c.24311T>G | XP_006715478.1:p.Leu8104Arg | |
| XM_006715416.1:c.24296T>G | XP_006715479.1:p.Leu8099Arg | |
| XM_006715417.1:c.24170T>G | XP_006715480.1:p.Leu8057Arg | |
| XM_006715420.1:c.24158T>G | XP_006715483.1:p.Leu8053Arg | |
| XM_006715421.1:c.24155T>G | XP_006715484.1:p.Leu8052Arg | |
| XM_006715422.1:c.24152T>G | XP_006715485.1:p.Leu8051Arg | |
| XM_006715423.1:c.24311T>G | XP_006715486.1:p.Leu8104Arg | |
| XM_006715424.1:c.24311T>G | XP_006715487.1:p.Leu8104Arg | |
| XM_006715425.1:c.24311T>G | XP_006715488.1:p.Leu8104Arg | |
| XM_011535641.1:c.24308T>G | XP_011533943.1:p.Leu8103Arg | |
| XM_011535642.1:c.24296T>G | XP_011533944.1:p.Leu8099Arg | |
| XM_011535643.1:c.24146T>G | XP_011533945.1:p.Leu8049Arg | |
| XM_011535644.1:c.22586T>G | XP_011533946.1:p.Leu7529Arg | |
| XM_011535645.1:c.22079T>G | XP_011533947.1:p.Leu7360Arg | |
| XM_011535647.1:c.17546T>G | XP_011533949.1:p.Leu5849Arg | |
| NM_001347701.1:c.881T>G | NP_001334630.1:p.Leu294Arg | |
| NM_001347702.1:c.740T>G | NP_001334631.1:p.Leu247Arg | |
| XM_006715408.2:c.24299T>G | XP_006715471.1:p.Leu8100Arg | |
| XM_006715410.2:c.24311T>G | XP_006715473.1:p.Leu8104Arg | |
| XM_006715412.2:c.24296T>G | XP_006715475.1:p.Leu8099Arg | |
| XM_006715413.2:c.24311T>G | XP_006715476.1:p.Leu8104Arg | |
| XM_006715415.2:c.24311T>G | XP_006715478.1:p.Leu8104Arg | |
| XM_006715416.2:c.24296T>G | XP_006715479.1:p.Leu8099Arg | |
| XM_006715417.2:c.24170T>G | XP_006715480.1:p.Leu8057Arg | |
| XM_006715420.2:c.24158T>G | XP_006715483.1:p.Leu8053Arg | |
| XM_006715421.2:c.24155T>G | XP_006715484.1:p.Leu8052Arg | |
| XM_006715423.2:c.24311T>G | XP_006715486.1:p.Leu8104Arg | |
| XM_006715424.2:c.24311T>G | XP_006715487.1:p.Leu8104Arg | |
| XM_006715425.2:c.24311T>G | XP_006715488.1:p.Leu8104Arg | |
| XM_011535641.2:c.24308T>G | XP_011533943.1:p.Leu8103Arg | |
| XM_011535642.2:c.24296T>G | XP_011533944.1:p.Leu8099Arg | |
| XM_011535645.2:c.22079T>G | XP_011533947.1:p.Leu7360Arg | |
| XM_017010608.1:c.24311T>G | XP_016866097.1:p.Leu8104Arg | |
| XM_017010609.1:c.24311T>G | XP_016866098.1:p.Leu8104Arg | |
| XM_017010610.1:c.24290T>G | XP_016866099.1:p.Leu8097Arg | |
| XM_017010611.2:c.24284T>G | XP_016866100.1:p.Leu8095Arg | |
| XM_017010612.1:c.24233T>G | XP_016866101.1:p.Leu8078Arg | |
| XM_017010613.1:c.24308T>G | XP_016866102.1:p.Leu8103Arg | |
| XM_017010614.1:c.24155T>G | XP_016866103.1:p.Leu8052Arg | |
| XM_017010615.1:c.24155T>G | XP_016866104.1:p.Leu8052Arg | |
| XM_017010616.1:c.24311T>G | XP_016866105.1:p.Leu8104Arg | |
| XM_017010617.1:c.24308T>G | XP_016866106.1:p.Leu8103Arg | |
| XM_017010618.1:c.24296T>G | XP_016866107.1:p.Leu8099Arg | |
| XM_017010619.1:c.22586T>G | XP_016866108.1:p.Leu7529Arg | |
| NM_182961.4:c.24275T>G MANE Select | NP_892006.3:p.Leu8092Arg | |
| NM_001347701.2:c.881T>G | NP_001334630.1:p.Leu294Arg | |
| NM_001347702.2:c.740T>G MANE Plus Clinical | NP_001334631.1:p.Leu247Arg | |
| NM_033071.5:c.24062T>G | NP_149062.2:p.Leu8021Arg |