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.152140043C>A , CM000668.2:g.152140043C>A | GRCh38 |
| NC_000006.11:g.152461178C>A , CM000668.1:g.152461178C>A | GRCh37 |
| NC_000006.10:g.152502871C>A | NCBI36 |
| NG_012855.1:g.502357G>T | |
| NG_012855.2:g.502357G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1899G>T MANE Plus Clinical | ENSP00000346701.4:p.Trp633Cys | |
| ENST00000367255.10:c.25365G>T MANE Select | ENSP00000356224.5:p.Trp8455Cys | |
| ENST00000423061.6:c.25221G>T | ENSP00000396024.1:p.Trp8407Cys | |
| ENST00000672154.1:c.767G>T | ||
| ENST00000672169.1:c.1100G>T | ||
| ENST00000673173.1:c.1009G>T | ||
| ENST00000673451.1:c.1137G>T | ENSP00000500189.1:p.Trp379Cys | |
| ENST00000341594.9:c.24150G>T | ENSP00000341887.6:p.Trp8050Cys | |
| ENST00000347037.9:n.2113G>T | ||
| ENST00000354674.4:c.1899G>T | ENSP00000346701.4:p.Trp633Cys | |
| ENST00000367251.7:c.4200G>T | ENSP00000356220.3:p.Trp1400Cys | |
| ENST00000367255.9:c.25365G>T | ENSP00000356224.5:p.Trp8455Cys | |
| ENST00000367256.9:n.9057G>T | ||
| ENST00000367257.8:c.3303G>T | ENSP00000356226.4:p.Trp1101Cys | |
| ENST00000409694.6:n.8949G>T | ||
| ENST00000423061.5:c.25221G>T | ENSP00000396024.1:p.Trp8407Cys | |
| ENST00000460912.6:n.1979G>T | ||
| ENST00000478916.5:n.4387G>T | ||
| ENST00000536990.5:n.2202G>T | ||
| ENST00000539504.5:c.1830G>T | ENSP00000441052.1:p.Trp610Cys | |
| NM_033071.3:c.25221G>T | NP_149062.1:p.Trp8407Cys | |
| NM_182961.3:c.25365G>T | NP_892006.3:p.Trp8455Cys | |
| XM_006715407.1:c.25470G>T | XP_006715470.1:p.Trp8490Cys | |
| XM_006715408.1:c.25458G>T | XP_006715471.1:p.Trp8486Cys | |
| XM_006715409.1:c.25449G>T | XP_006715472.1:p.Trp8483Cys | |
| XM_006715410.1:c.25470G>T | XP_006715473.1:p.Trp8490Cys | |
| XM_006715411.1:c.25419G>T | XP_006715474.1:p.Trp8473Cys | |
| XM_006715412.1:c.25455G>T | XP_006715475.1:p.Trp8485Cys | |
| XM_006715413.1:c.25401G>T | XP_006715476.1:p.Trp8467Cys | |
| XM_006715414.1:c.25398G>T | XP_006715477.1:p.Trp8466Cys | |
| XM_006715415.1:c.25401G>T | XP_006715478.1:p.Trp8467Cys | |
| XM_006715416.1:c.25386G>T | XP_006715479.1:p.Trp8462Cys | |
| XM_006715417.1:c.25329G>T | XP_006715480.1:p.Trp8443Cys | |
| XM_006715420.1:c.25317G>T | XP_006715483.1:p.Trp8439Cys | |
| XM_006715421.1:c.25314G>T | XP_006715484.1:p.Trp8438Cys | |
| XM_006715422.1:c.25311G>T | XP_006715485.1:p.Trp8437Cys | |
| XM_006715423.1:c.25470G>T | XP_006715486.1:p.Trp8490Cys | |
| XM_006715424.1:c.25470G>T | XP_006715487.1:p.Trp8490Cys | |
| XM_006715425.1:c.25401G>T | XP_006715488.1:p.Trp8467Cys | |
| XM_011535641.1:c.25467G>T | XP_011533943.1:p.Trp8489Cys | |
| XM_011535642.1:c.25455G>T | XP_011533944.1:p.Trp8485Cys | |
| XM_011535643.1:c.25305G>T | XP_011533945.1:p.Trp8435Cys | |
| XM_011535644.1:c.23745G>T | XP_011533946.1:p.Trp7915Cys | |
| XM_011535645.1:c.23238G>T | XP_011533947.1:p.Trp7746Cys | |
| XM_011535647.1:c.18705G>T | XP_011533949.1:p.Trp6235Cys | |
| NM_001347701.1:c.1971G>T | NP_001334630.1:p.Trp657Cys | |
| NM_001347702.1:c.1899G>T | NP_001334631.1:p.Trp633Cys | |
| XM_006715408.2:c.25458G>T | XP_006715471.1:p.Trp8486Cys | |
| XM_006715410.2:c.25470G>T | XP_006715473.1:p.Trp8490Cys | |
| XM_006715412.2:c.25455G>T | XP_006715475.1:p.Trp8485Cys | |
| XM_006715413.2:c.25401G>T | XP_006715476.1:p.Trp8467Cys | |
| XM_006715415.2:c.25401G>T | XP_006715478.1:p.Trp8467Cys | |
| XM_006715416.2:c.25386G>T | XP_006715479.1:p.Trp8462Cys | |
| XM_006715417.2:c.25329G>T | XP_006715480.1:p.Trp8443Cys | |
| XM_006715420.2:c.25317G>T | XP_006715483.1:p.Trp8439Cys | |
| XM_006715421.2:c.25314G>T | XP_006715484.1:p.Trp8438Cys | |
| XM_006715423.2:c.25470G>T | XP_006715486.1:p.Trp8490Cys | |
| XM_006715424.2:c.25470G>T | XP_006715487.1:p.Trp8490Cys | |
| XM_006715425.2:c.25401G>T | XP_006715488.1:p.Trp8467Cys | |
| XM_011535641.2:c.25467G>T | XP_011533943.1:p.Trp8489Cys | |
| XM_011535642.2:c.25455G>T | XP_011533944.1:p.Trp8485Cys | |
| XM_011535645.2:c.23238G>T | XP_011533947.1:p.Trp7746Cys | |
| XM_017010608.1:c.25470G>T | XP_016866097.1:p.Trp8490Cys | |
| XM_017010609.1:c.25470G>T | XP_016866098.1:p.Trp8490Cys | |
| XM_017010610.1:c.25449G>T | XP_016866099.1:p.Trp8483Cys | |
| XM_017010611.2:c.25443G>T | XP_016866100.1:p.Trp8481Cys | |
| XM_017010612.1:c.25392G>T | XP_016866101.1:p.Trp8464Cys | |
| XM_017010613.1:c.25398G>T | XP_016866102.1:p.Trp8466Cys | |
| XM_017010614.1:c.25314G>T | XP_016866103.1:p.Trp8438Cys | |
| XM_017010615.1:c.25245G>T | XP_016866104.1:p.Trp8415Cys | |
| XM_017010616.1:c.25401G>T | XP_016866105.1:p.Trp8467Cys | |
| XM_017010617.1:c.25398G>T | XP_016866106.1:p.Trp8466Cys | |
| XM_017010618.1:c.25386G>T | XP_016866107.1:p.Trp8462Cys | |
| XM_017010619.1:c.23745G>T | XP_016866108.1:p.Trp7915Cys | |
| NM_182961.4:c.25365G>T MANE Select | NP_892006.3:p.Trp8455Cys | |
| NM_001347701.2:c.1971G>T | NP_001334630.1:p.Trp657Cys | |
| NM_001347702.2:c.1899G>T MANE Plus Clinical | NP_001334631.1:p.Trp633Cys | |
| NM_033071.5:c.25221G>T | NP_149062.2:p.Trp8407Cys |