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.152140044C>A , CM000668.2:g.152140044C>A | GRCh38 |
| NC_000006.11:g.152461179C>A , CM000668.1:g.152461179C>A | GRCh37 |
| NC_000006.10:g.152502872C>A | NCBI36 |
| NG_012855.1:g.502356G>T | |
| NG_012855.2:g.502356G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.1898G>T MANE Plus Clinical | ENSP00000346701.4:p.Trp633Leu | |
| ENST00000367255.10:c.25364G>T MANE Select | ENSP00000356224.5:p.Trp8455Leu | |
| ENST00000423061.6:c.25220G>T | ENSP00000396024.1:p.Trp8407Leu | |
| ENST00000672154.1:c.766G>T | ||
| ENST00000672169.1:c.1099G>T | ||
| ENST00000673173.1:c.1008G>T | ||
| ENST00000673451.1:c.1136G>T | ENSP00000500189.1:p.Trp379Leu | |
| ENST00000341594.9:c.24149G>T | ENSP00000341887.6:p.Trp8050Leu | |
| ENST00000347037.9:n.2112G>T | ||
| ENST00000354674.4:c.1898G>T | ENSP00000346701.4:p.Trp633Leu | |
| ENST00000367251.7:c.4199G>T | ENSP00000356220.3:p.Trp1400Leu | |
| ENST00000367255.9:c.25364G>T | ENSP00000356224.5:p.Trp8455Leu | |
| ENST00000367256.9:n.9056G>T | ||
| ENST00000367257.8:c.3302G>T | ENSP00000356226.4:p.Trp1101Leu | |
| ENST00000409694.6:n.8948G>T | ||
| ENST00000423061.5:c.25220G>T | ENSP00000396024.1:p.Trp8407Leu | |
| ENST00000460912.6:n.1978G>T | ||
| ENST00000478916.5:n.4386G>T | ||
| ENST00000536990.5:n.2201G>T | ||
| ENST00000539504.5:c.1829G>T | ENSP00000441052.1:p.Trp610Leu | |
| NM_033071.3:c.25220G>T | NP_149062.1:p.Trp8407Leu | |
| NM_182961.3:c.25364G>T | NP_892006.3:p.Trp8455Leu | |
| XM_006715407.1:c.25469G>T | XP_006715470.1:p.Trp8490Leu | |
| XM_006715408.1:c.25457G>T | XP_006715471.1:p.Trp8486Leu | |
| XM_006715409.1:c.25448G>T | XP_006715472.1:p.Trp8483Leu | |
| XM_006715410.1:c.25469G>T | XP_006715473.1:p.Trp8490Leu | |
| XM_006715411.1:c.25418G>T | XP_006715474.1:p.Trp8473Leu | |
| XM_006715412.1:c.25454G>T | XP_006715475.1:p.Trp8485Leu | |
| XM_006715413.1:c.25400G>T | XP_006715476.1:p.Trp8467Leu | |
| XM_006715414.1:c.25397G>T | XP_006715477.1:p.Trp8466Leu | |
| XM_006715415.1:c.25400G>T | XP_006715478.1:p.Trp8467Leu | |
| XM_006715416.1:c.25385G>T | XP_006715479.1:p.Trp8462Leu | |
| XM_006715417.1:c.25328G>T | XP_006715480.1:p.Trp8443Leu | |
| XM_006715420.1:c.25316G>T | XP_006715483.1:p.Trp8439Leu | |
| XM_006715421.1:c.25313G>T | XP_006715484.1:p.Trp8438Leu | |
| XM_006715422.1:c.25310G>T | XP_006715485.1:p.Trp8437Leu | |
| XM_006715423.1:c.25469G>T | XP_006715486.1:p.Trp8490Leu | |
| XM_006715424.1:c.25469G>T | XP_006715487.1:p.Trp8490Leu | |
| XM_006715425.1:c.25400G>T | XP_006715488.1:p.Trp8467Leu | |
| XM_011535641.1:c.25466G>T | XP_011533943.1:p.Trp8489Leu | |
| XM_011535642.1:c.25454G>T | XP_011533944.1:p.Trp8485Leu | |
| XM_011535643.1:c.25304G>T | XP_011533945.1:p.Trp8435Leu | |
| XM_011535644.1:c.23744G>T | XP_011533946.1:p.Trp7915Leu | |
| XM_011535645.1:c.23237G>T | XP_011533947.1:p.Trp7746Leu | |
| XM_011535647.1:c.18704G>T | XP_011533949.1:p.Trp6235Leu | |
| NM_001347701.1:c.1970G>T | NP_001334630.1:p.Trp657Leu | |
| NM_001347702.1:c.1898G>T | NP_001334631.1:p.Trp633Leu | |
| XM_006715408.2:c.25457G>T | XP_006715471.1:p.Trp8486Leu | |
| XM_006715410.2:c.25469G>T | XP_006715473.1:p.Trp8490Leu | |
| XM_006715412.2:c.25454G>T | XP_006715475.1:p.Trp8485Leu | |
| XM_006715413.2:c.25400G>T | XP_006715476.1:p.Trp8467Leu | |
| XM_006715415.2:c.25400G>T | XP_006715478.1:p.Trp8467Leu | |
| XM_006715416.2:c.25385G>T | XP_006715479.1:p.Trp8462Leu | |
| XM_006715417.2:c.25328G>T | XP_006715480.1:p.Trp8443Leu | |
| XM_006715420.2:c.25316G>T | XP_006715483.1:p.Trp8439Leu | |
| XM_006715421.2:c.25313G>T | XP_006715484.1:p.Trp8438Leu | |
| XM_006715423.2:c.25469G>T | XP_006715486.1:p.Trp8490Leu | |
| XM_006715424.2:c.25469G>T | XP_006715487.1:p.Trp8490Leu | |
| XM_006715425.2:c.25400G>T | XP_006715488.1:p.Trp8467Leu | |
| XM_011535641.2:c.25466G>T | XP_011533943.1:p.Trp8489Leu | |
| XM_011535642.2:c.25454G>T | XP_011533944.1:p.Trp8485Leu | |
| XM_011535645.2:c.23237G>T | XP_011533947.1:p.Trp7746Leu | |
| XM_017010608.1:c.25469G>T | XP_016866097.1:p.Trp8490Leu | |
| XM_017010609.1:c.25469G>T | XP_016866098.1:p.Trp8490Leu | |
| XM_017010610.1:c.25448G>T | XP_016866099.1:p.Trp8483Leu | |
| XM_017010611.2:c.25442G>T | XP_016866100.1:p.Trp8481Leu | |
| XM_017010612.1:c.25391G>T | XP_016866101.1:p.Trp8464Leu | |
| XM_017010613.1:c.25397G>T | XP_016866102.1:p.Trp8466Leu | |
| XM_017010614.1:c.25313G>T | XP_016866103.1:p.Trp8438Leu | |
| XM_017010615.1:c.25244G>T | XP_016866104.1:p.Trp8415Leu | |
| XM_017010616.1:c.25400G>T | XP_016866105.1:p.Trp8467Leu | |
| XM_017010617.1:c.25397G>T | XP_016866106.1:p.Trp8466Leu | |
| XM_017010618.1:c.25385G>T | XP_016866107.1:p.Trp8462Leu | |
| XM_017010619.1:c.23744G>T | XP_016866108.1:p.Trp7915Leu | |
| NM_182961.4:c.25364G>T MANE Select | NP_892006.3:p.Trp8455Leu | |
| NM_001347701.2:c.1970G>T | NP_001334630.1:p.Trp657Leu | |
| NM_001347702.2:c.1898G>T MANE Plus Clinical | NP_001334631.1:p.Trp633Leu | |
| NM_033071.5:c.25220G>T | NP_149062.2:p.Trp8407Leu |