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_000006.12:g.152140042G= , CM000668.2:g.152140042G= | GRCh38 |
| NC_000006.11:g.152461177G= , CM000668.1:g.152461177G= | GRCh37 |
| NC_000006.10:g.152502870G= | NCBI36 |
| NG_012855.1:g.502358C= | |
| NG_012855.2:g.502358C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.1900C= MANE Plus Clinical | ENSP00000346701.4:p.Leu634= | |
| ENST00000367255.10:c.25366C= MANE Select | ENSP00000356224.5:p.Leu8456= | |
| ENST00000423061.6:c.25222C= | ENSP00000396024.1:p.Leu8408= | |
| ENST00000672154.1:c.768C= | ||
| ENST00000672169.1:c.1101C= | ||
| ENST00000673173.1:c.1010C= | ||
| ENST00000673451.1:c.1138C= | ENSP00000500189.1:p.Leu380= | |
| ENST00000341594.9:c.24151C= | ENSP00000341887.6:p.Leu8051= | |
| ENST00000347037.9:n.2114C= | ||
| ENST00000354674.4:c.1900C= | ENSP00000346701.4:p.Leu634= | |
| ENST00000367251.7:c.4201C= | ENSP00000356220.3:p.Leu1401= | |
| ENST00000367255.9:c.25366C= | ENSP00000356224.5:p.Leu8456= | |
| ENST00000367256.9:n.9058C= | ||
| ENST00000367257.8:c.3304C= | ENSP00000356226.4:p.Leu1102= | |
| ENST00000409694.6:n.8950C= | ||
| ENST00000423061.5:c.25222C= | ENSP00000396024.1:p.Leu8408= | |
| ENST00000460912.6:n.1980C= | ||
| ENST00000478916.5:n.4388C= | ||
| ENST00000536990.5:n.2203C= | ||
| ENST00000539504.5:c.1831C= | ENSP00000441052.1:p.Leu611= | |
| NM_033071.3:c.25222C= | NP_149062.1:p.Leu8408= | |
| NM_182961.3:c.25366C= | NP_892006.3:p.Leu8456= | |
| XM_006715407.1:c.25471C= | XP_006715470.1:p.Leu8491= | |
| XM_006715408.1:c.25459C= | XP_006715471.1:p.Leu8487= | |
| XM_006715409.1:c.25450C= | XP_006715472.1:p.Leu8484= | |
| XM_006715410.1:c.25471C= | XP_006715473.1:p.Leu8491= | |
| XM_006715411.1:c.25420C= | XP_006715474.1:p.Leu8474= | |
| XM_006715412.1:c.25456C= | XP_006715475.1:p.Leu8486= | |
| XM_006715413.1:c.25402C= | XP_006715476.1:p.Leu8468= | |
| XM_006715414.1:c.25399C= | XP_006715477.1:p.Leu8467= | |
| XM_006715415.1:c.25402C= | XP_006715478.1:p.Leu8468= | |
| XM_006715416.1:c.25387C= | XP_006715479.1:p.Leu8463= | |
| XM_006715417.1:c.25330C= | XP_006715480.1:p.Leu8444= | |
| XM_006715420.1:c.25318C= | XP_006715483.1:p.Leu8440= | |
| XM_006715421.1:c.25315C= | XP_006715484.1:p.Leu8439= | |
| XM_006715422.1:c.25312C= | XP_006715485.1:p.Leu8438= | |
| XM_006715423.1:c.25471C= | XP_006715486.1:p.Leu8491= | |
| XM_006715424.1:c.25471C= | XP_006715487.1:p.Leu8491= | |
| XM_006715425.1:c.25402C= | XP_006715488.1:p.Leu8468= | |
| XM_011535641.1:c.25468C= | XP_011533943.1:p.Leu8490= | |
| XM_011535642.1:c.25456C= | XP_011533944.1:p.Leu8486= | |
| XM_011535643.1:c.25306C= | XP_011533945.1:p.Leu8436= | |
| XM_011535644.1:c.23746C= | XP_011533946.1:p.Leu7916= | |
| XM_011535645.1:c.23239C= | XP_011533947.1:p.Leu7747= | |
| XM_011535647.1:c.18706C= | XP_011533949.1:p.Leu6236= | |
| NM_001347701.1:c.1972C= | NP_001334630.1:p.Leu658= | |
| NM_001347702.1:c.1900C= | NP_001334631.1:p.Leu634= | |
| XM_006715408.2:c.25459C= | XP_006715471.1:p.Leu8487= | |
| XM_006715410.2:c.25471C= | XP_006715473.1:p.Leu8491= | |
| XM_006715412.2:c.25456C= | XP_006715475.1:p.Leu8486= | |
| XM_006715413.2:c.25402C= | XP_006715476.1:p.Leu8468= | |
| XM_006715415.2:c.25402C= | XP_006715478.1:p.Leu8468= | |
| XM_006715416.2:c.25387C= | XP_006715479.1:p.Leu8463= | |
| XM_006715417.2:c.25330C= | XP_006715480.1:p.Leu8444= | |
| XM_006715420.2:c.25318C= | XP_006715483.1:p.Leu8440= | |
| XM_006715421.2:c.25315C= | XP_006715484.1:p.Leu8439= | |
| XM_006715423.2:c.25471C= | XP_006715486.1:p.Leu8491= | |
| XM_006715424.2:c.25471C= | XP_006715487.1:p.Leu8491= | |
| XM_006715425.2:c.25402C= | XP_006715488.1:p.Leu8468= | |
| XM_011535641.2:c.25468C= | XP_011533943.1:p.Leu8490= | |
| XM_011535642.2:c.25456C= | XP_011533944.1:p.Leu8486= | |
| XM_011535645.2:c.23239C= | XP_011533947.1:p.Leu7747= | |
| XM_017010608.1:c.25471C= | XP_016866097.1:p.Leu8491= | |
| XM_017010609.1:c.25471C= | XP_016866098.1:p.Leu8491= | |
| XM_017010610.1:c.25450C= | XP_016866099.1:p.Leu8484= | |
| XM_017010611.2:c.25444C= | XP_016866100.1:p.Leu8482= | |
| XM_017010612.1:c.25393C= | XP_016866101.1:p.Leu8465= | |
| XM_017010613.1:c.25399C= | XP_016866102.1:p.Leu8467= | |
| XM_017010614.1:c.25315C= | XP_016866103.1:p.Leu8439= | |
| XM_017010615.1:c.25246C= | XP_016866104.1:p.Leu8416= | |
| XM_017010616.1:c.25402C= | XP_016866105.1:p.Leu8468= | |
| XM_017010617.1:c.25399C= | XP_016866106.1:p.Leu8467= | |
| XM_017010618.1:c.25387C= | XP_016866107.1:p.Leu8463= | |
| XM_017010619.1:c.23746C= | XP_016866108.1:p.Leu7916= | |
| NM_182961.4:c.25366C= MANE Select | NP_892006.3:p.Leu8456= | |
| NM_001347701.2:c.1972C= | NP_001334630.1:p.Leu658= | |
| NM_001347702.2:c.1900C= MANE Plus Clinical | NP_001334631.1:p.Leu634= | |
| NM_033071.5:c.25222C= | NP_149062.2:p.Leu8408= |