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.152143645A>G , CM000668.2:g.152143645A>G | GRCh38 |
| NC_000006.11:g.152464780A>G , CM000668.1:g.152464780A>G | GRCh37 |
| NC_000006.10:g.152506473A>G | NCBI36 |
| NG_012855.1:g.498755T>C | |
| NG_012855.2:g.498755T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.1631T>C MANE Plus Clinical | ENSP00000346701.4:p.Leu544Pro | |
| ENST00000367255.10:c.25097T>C MANE Select | ENSP00000356224.5:p.Leu8366Pro | |
| ENST00000423061.6:c.24953T>C | ENSP00000396024.1:p.Leu8318Pro | |
| ENST00000672154.1:c.499T>C | ||
| ENST00000672169.1:c.832T>C | ||
| ENST00000673173.1:c.891-3484T>C | ||
| ENST00000673451.1:c.869T>C | ENSP00000500189.1:p.Leu290Pro | |
| ENST00000341594.9:c.23882T>C | ENSP00000341887.6:p.Leu7961Pro | |
| ENST00000347037.9:n.1845T>C | ||
| ENST00000354674.4:c.1631T>C | ENSP00000346701.4:p.Leu544Pro | |
| ENST00000367251.7:c.3932T>C | ENSP00000356220.3:p.Leu1311Pro | |
| ENST00000367255.9:c.25097T>C | ENSP00000356224.5:p.Leu8366Pro | |
| ENST00000367256.9:n.8789T>C | ||
| ENST00000367257.8:c.3035T>C | ENSP00000356226.4:p.Leu1012Pro | |
| ENST00000409694.6:n.8681T>C | ||
| ENST00000423061.5:c.24953T>C | ENSP00000396024.1:p.Leu8318Pro | |
| ENST00000460912.6:n.1711T>C | ||
| ENST00000478916.5:n.4119T>C | ||
| ENST00000536990.5:n.1934T>C | ||
| ENST00000539504.5:c.1562T>C | ENSP00000441052.1:p.Leu521Pro | |
| NM_033071.3:c.24953T>C | NP_149062.1:p.Leu8318Pro | |
| NM_182961.3:c.25097T>C | NP_892006.3:p.Leu8366Pro | |
| XM_006715407.1:c.25202T>C | XP_006715470.1:p.Leu8401Pro | |
| XM_006715408.1:c.25190T>C | XP_006715471.1:p.Leu8397Pro | |
| XM_006715409.1:c.25181T>C | XP_006715472.1:p.Leu8394Pro | |
| XM_006715410.1:c.25202T>C | XP_006715473.1:p.Leu8401Pro | |
| XM_006715411.1:c.25151T>C | XP_006715474.1:p.Leu8384Pro | |
| XM_006715412.1:c.25187T>C | XP_006715475.1:p.Leu8396Pro | |
| XM_006715413.1:c.25133T>C | XP_006715476.1:p.Leu8378Pro | |
| XM_006715414.1:c.25130T>C | XP_006715477.1:p.Leu8377Pro | |
| XM_006715415.1:c.25133T>C | XP_006715478.1:p.Leu8378Pro | |
| XM_006715416.1:c.25118T>C | XP_006715479.1:p.Leu8373Pro | |
| XM_006715417.1:c.25061T>C | XP_006715480.1:p.Leu8354Pro | |
| XM_006715420.1:c.25049T>C | XP_006715483.1:p.Leu8350Pro | |
| XM_006715421.1:c.25046T>C | XP_006715484.1:p.Leu8349Pro | |
| XM_006715422.1:c.25043T>C | XP_006715485.1:p.Leu8348Pro | |
| XM_006715423.1:c.25202T>C | XP_006715486.1:p.Leu8401Pro | |
| XM_006715424.1:c.25202T>C | XP_006715487.1:p.Leu8401Pro | |
| XM_006715425.1:c.25133T>C | XP_006715488.1:p.Leu8378Pro | |
| XM_011535641.1:c.25199T>C | XP_011533943.1:p.Leu8400Pro | |
| XM_011535642.1:c.25187T>C | XP_011533944.1:p.Leu8396Pro | |
| XM_011535643.1:c.25037T>C | XP_011533945.1:p.Leu8346Pro | |
| XM_011535644.1:c.23477T>C | XP_011533946.1:p.Leu7826Pro | |
| XM_011535645.1:c.22970T>C | XP_011533947.1:p.Leu7657Pro | |
| XM_011535647.1:c.18437T>C | XP_011533949.1:p.Leu6146Pro | |
| NM_001347701.1:c.1703T>C | NP_001334630.1:p.Leu568Pro | |
| NM_001347702.1:c.1631T>C | NP_001334631.1:p.Leu544Pro | |
| XM_006715408.2:c.25190T>C | XP_006715471.1:p.Leu8397Pro | |
| XM_006715410.2:c.25202T>C | XP_006715473.1:p.Leu8401Pro | |
| XM_006715412.2:c.25187T>C | XP_006715475.1:p.Leu8396Pro | |
| XM_006715413.2:c.25133T>C | XP_006715476.1:p.Leu8378Pro | |
| XM_006715415.2:c.25133T>C | XP_006715478.1:p.Leu8378Pro | |
| XM_006715416.2:c.25118T>C | XP_006715479.1:p.Leu8373Pro | |
| XM_006715417.2:c.25061T>C | XP_006715480.1:p.Leu8354Pro | |
| XM_006715420.2:c.25049T>C | XP_006715483.1:p.Leu8350Pro | |
| XM_006715421.2:c.25046T>C | XP_006715484.1:p.Leu8349Pro | |
| XM_006715423.2:c.25202T>C | XP_006715486.1:p.Leu8401Pro | |
| XM_006715424.2:c.25202T>C | XP_006715487.1:p.Leu8401Pro | |
| XM_006715425.2:c.25133T>C | XP_006715488.1:p.Leu8378Pro | |
| XM_011535641.2:c.25199T>C | XP_011533943.1:p.Leu8400Pro | |
| XM_011535642.2:c.25187T>C | XP_011533944.1:p.Leu8396Pro | |
| XM_011535645.2:c.22970T>C | XP_011533947.1:p.Leu7657Pro | |
| XM_017010608.1:c.25202T>C | XP_016866097.1:p.Leu8401Pro | |
| XM_017010609.1:c.25202T>C | XP_016866098.1:p.Leu8401Pro | |
| XM_017010610.1:c.25181T>C | XP_016866099.1:p.Leu8394Pro | |
| XM_017010611.2:c.25175T>C | XP_016866100.1:p.Leu8392Pro | |
| XM_017010612.1:c.25124T>C | XP_016866101.1:p.Leu8375Pro | |
| XM_017010613.1:c.25130T>C | XP_016866102.1:p.Leu8377Pro | |
| XM_017010614.1:c.25046T>C | XP_016866103.1:p.Leu8349Pro | |
| XM_017010615.1:c.24977T>C | XP_016866104.1:p.Leu8326Pro | |
| XM_017010616.1:c.25133T>C | XP_016866105.1:p.Leu8378Pro | |
| XM_017010617.1:c.25130T>C | XP_016866106.1:p.Leu8377Pro | |
| XM_017010618.1:c.25118T>C | XP_016866107.1:p.Leu8373Pro | |
| XM_017010619.1:c.23477T>C | XP_016866108.1:p.Leu7826Pro | |
| NM_182961.4:c.25097T>C MANE Select | NP_892006.3:p.Leu8366Pro | |
| NM_001347701.2:c.1703T>C | NP_001334630.1:p.Leu568Pro | |
| NM_001347702.2:c.1631T>C MANE Plus Clinical | NP_001334631.1:p.Leu544Pro | |
| NM_033071.5:c.24953T>C | NP_149062.2:p.Leu8318Pro |