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.152143646G>T , CM000668.2:g.152143646G>T | GRCh38 |
| NC_000006.11:g.152464781G>T , CM000668.1:g.152464781G>T | GRCh37 |
| NC_000006.10:g.152506474G>T | NCBI36 |
| NG_012855.1:g.498754C>A | |
| NG_012855.2:g.498754C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.1630C>A MANE Plus Clinical | ENSP00000346701.4:p.Leu544Ile | |
| ENST00000367255.10:c.25096C>A MANE Select | ENSP00000356224.5:p.Leu8366Ile | |
| ENST00000423061.6:c.24952C>A | ENSP00000396024.1:p.Leu8318Ile | |
| ENST00000672154.1:c.498C>A | ||
| ENST00000672169.1:c.831C>A | ||
| ENST00000673173.1:c.891-3485C>A | ||
| ENST00000673451.1:c.868C>A | ENSP00000500189.1:p.Leu290Ile | |
| ENST00000341594.9:c.23881C>A | ENSP00000341887.6:p.Leu7961Ile | |
| ENST00000347037.9:n.1844C>A | ||
| ENST00000354674.4:c.1630C>A | ENSP00000346701.4:p.Leu544Ile | |
| ENST00000367251.7:c.3931C>A | ENSP00000356220.3:p.Leu1311Ile | |
| ENST00000367255.9:c.25096C>A | ENSP00000356224.5:p.Leu8366Ile | |
| ENST00000367256.9:n.8788C>A | ||
| ENST00000367257.8:c.3034C>A | ENSP00000356226.4:p.Leu1012Ile | |
| ENST00000409694.6:n.8680C>A | ||
| ENST00000423061.5:c.24952C>A | ENSP00000396024.1:p.Leu8318Ile | |
| ENST00000460912.6:n.1710C>A | ||
| ENST00000478916.5:n.4118C>A | ||
| ENST00000536990.5:n.1933C>A | ||
| ENST00000539504.5:c.1561C>A | ENSP00000441052.1:p.Leu521Ile | |
| NM_033071.3:c.24952C>A | NP_149062.1:p.Leu8318Ile | |
| NM_182961.3:c.25096C>A | NP_892006.3:p.Leu8366Ile | |
| XM_006715407.1:c.25201C>A | XP_006715470.1:p.Leu8401Ile | |
| XM_006715408.1:c.25189C>A | XP_006715471.1:p.Leu8397Ile | |
| XM_006715409.1:c.25180C>A | XP_006715472.1:p.Leu8394Ile | |
| XM_006715410.1:c.25201C>A | XP_006715473.1:p.Leu8401Ile | |
| XM_006715411.1:c.25150C>A | XP_006715474.1:p.Leu8384Ile | |
| XM_006715412.1:c.25186C>A | XP_006715475.1:p.Leu8396Ile | |
| XM_006715413.1:c.25132C>A | XP_006715476.1:p.Leu8378Ile | |
| XM_006715414.1:c.25129C>A | XP_006715477.1:p.Leu8377Ile | |
| XM_006715415.1:c.25132C>A | XP_006715478.1:p.Leu8378Ile | |
| XM_006715416.1:c.25117C>A | XP_006715479.1:p.Leu8373Ile | |
| XM_006715417.1:c.25060C>A | XP_006715480.1:p.Leu8354Ile | |
| XM_006715420.1:c.25048C>A | XP_006715483.1:p.Leu8350Ile | |
| XM_006715421.1:c.25045C>A | XP_006715484.1:p.Leu8349Ile | |
| XM_006715422.1:c.25042C>A | XP_006715485.1:p.Leu8348Ile | |
| XM_006715423.1:c.25201C>A | XP_006715486.1:p.Leu8401Ile | |
| XM_006715424.1:c.25201C>A | XP_006715487.1:p.Leu8401Ile | |
| XM_006715425.1:c.25132C>A | XP_006715488.1:p.Leu8378Ile | |
| XM_011535641.1:c.25198C>A | XP_011533943.1:p.Leu8400Ile | |
| XM_011535642.1:c.25186C>A | XP_011533944.1:p.Leu8396Ile | |
| XM_011535643.1:c.25036C>A | XP_011533945.1:p.Leu8346Ile | |
| XM_011535644.1:c.23476C>A | XP_011533946.1:p.Leu7826Ile | |
| XM_011535645.1:c.22969C>A | XP_011533947.1:p.Leu7657Ile | |
| XM_011535647.1:c.18436C>A | XP_011533949.1:p.Leu6146Ile | |
| NM_001347701.1:c.1702C>A | NP_001334630.1:p.Leu568Ile | |
| NM_001347702.1:c.1630C>A | NP_001334631.1:p.Leu544Ile | |
| XM_006715408.2:c.25189C>A | XP_006715471.1:p.Leu8397Ile | |
| XM_006715410.2:c.25201C>A | XP_006715473.1:p.Leu8401Ile | |
| XM_006715412.2:c.25186C>A | XP_006715475.1:p.Leu8396Ile | |
| XM_006715413.2:c.25132C>A | XP_006715476.1:p.Leu8378Ile | |
| XM_006715415.2:c.25132C>A | XP_006715478.1:p.Leu8378Ile | |
| XM_006715416.2:c.25117C>A | XP_006715479.1:p.Leu8373Ile | |
| XM_006715417.2:c.25060C>A | XP_006715480.1:p.Leu8354Ile | |
| XM_006715420.2:c.25048C>A | XP_006715483.1:p.Leu8350Ile | |
| XM_006715421.2:c.25045C>A | XP_006715484.1:p.Leu8349Ile | |
| XM_006715423.2:c.25201C>A | XP_006715486.1:p.Leu8401Ile | |
| XM_006715424.2:c.25201C>A | XP_006715487.1:p.Leu8401Ile | |
| XM_006715425.2:c.25132C>A | XP_006715488.1:p.Leu8378Ile | |
| XM_011535641.2:c.25198C>A | XP_011533943.1:p.Leu8400Ile | |
| XM_011535642.2:c.25186C>A | XP_011533944.1:p.Leu8396Ile | |
| XM_011535645.2:c.22969C>A | XP_011533947.1:p.Leu7657Ile | |
| XM_017010608.1:c.25201C>A | XP_016866097.1:p.Leu8401Ile | |
| XM_017010609.1:c.25201C>A | XP_016866098.1:p.Leu8401Ile | |
| XM_017010610.1:c.25180C>A | XP_016866099.1:p.Leu8394Ile | |
| XM_017010611.2:c.25174C>A | XP_016866100.1:p.Leu8392Ile | |
| XM_017010612.1:c.25123C>A | XP_016866101.1:p.Leu8375Ile | |
| XM_017010613.1:c.25129C>A | XP_016866102.1:p.Leu8377Ile | |
| XM_017010614.1:c.25045C>A | XP_016866103.1:p.Leu8349Ile | |
| XM_017010615.1:c.24976C>A | XP_016866104.1:p.Leu8326Ile | |
| XM_017010616.1:c.25132C>A | XP_016866105.1:p.Leu8378Ile | |
| XM_017010617.1:c.25129C>A | XP_016866106.1:p.Leu8377Ile | |
| XM_017010618.1:c.25117C>A | XP_016866107.1:p.Leu8373Ile | |
| XM_017010619.1:c.23476C>A | XP_016866108.1:p.Leu7826Ile | |
| NM_182961.4:c.25096C>A MANE Select | NP_892006.3:p.Leu8366Ile | |
| NM_001347701.2:c.1702C>A | NP_001334630.1:p.Leu568Ile | |
| NM_001347702.2:c.1630C>A MANE Plus Clinical | NP_001334631.1:p.Leu544Ile | |
| NM_033071.5:c.24952C>A | NP_149062.2:p.Leu8318Ile |