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
MyVariant Identifiers:
chr6:g.152443667T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122532T>A , CM000668.2:g.152122532T>A | GRCh38 |
| NC_000006.11:g.152443667T>A , CM000668.1:g.152443667T>A | GRCh37 |
| NC_000006.10:g.152485360T>A | NCBI36 |
| NG_012855.1:g.519868A>T | |
| NG_008493.2:g.470842T>A | |
| NG_012855.2:g.519868A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.2832A>T (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Pro944= | |
| ENST00000367255.10:c.26298A>T (SYNE1) MANE Select | ENSP00000356224.5:p.Pro8766= | |
| ENST00000423061.6:c.26154A>T (SYNE1) | ENSP00000396024.1:p.Pro8718= | |
| ENST00000672154.1:c.1641A>T (SYNE1) | ||
| ENST00000672169.1:c.2016A>T (SYNE1) | ||
| ENST00000673173.1:c.1883A>T (SYNE1) | ||
| ENST00000673451.1:c.2148A>T (SYNE1) | ENSP00000500189.1:n.2148A>T | |
| ENST00000341594.9:c.25083A>T (SYNE1) | ENSP00000341887.6:p.Pro8361= | |
| ENST00000347037.9:n.3046A>T (SYNE1) | ||
| ENST00000354674.4:c.2832A>T (SYNE1) | ENSP00000346701.4:p.Pro944= | |
| ENST00000367251.7:c.5074A>T (SYNE1) | ENSP00000356220.3:n.5074A>T | |
| ENST00000367255.9:c.26298A>T (SYNE1) | ENSP00000356224.5:p.Pro8766= | |
| ENST00000367256.9:n.9990A>T (SYNE1) | ||
| ENST00000367257.8:c.4177A>T (SYNE1) | ENSP00000356226.4:n.4177A>T | |
| ENST00000409694.6:n.9882A>T (SYNE1) | ||
| ENST00000423061.5:c.26154A>T (SYNE1) | ENSP00000396024.1:p.Pro8718= | |
| ENST00000427531.6:c.851-2734T>A (ESR1) | ENSP00000394721.2:n.851-2734T>A | |
| ENST00000460912.6:n.2912A>T (SYNE1) | ||
| ENST00000478916.5:n.6935A>T (SYNE1) | ||
| ENST00000539504.5:c.2763A>T (SYNE1) | ENSP00000441052.1:p.Pro921= | |
| NM_033071.3:c.26154A>T (SYNE1) | NP_149062.1:p.Pro8718= | |
| NM_182961.3:c.26298A>T (SYNE1) | NP_892006.3:p.Pro8766= | |
| XM_006715407.1:c.26445A>T (SYNE1) | XP_006715470.1:p.Pro8815= | |
| XM_006715408.1:c.26433A>T (SYNE1) | XP_006715471.1:p.Pro8811= | |
| XM_006715409.1:c.26424A>T (SYNE1) | XP_006715472.1:p.Pro8808= | |
| XM_006715410.1:c.26403A>T (SYNE1) | XP_006715473.1:p.Pro8801= | |
| XM_006715411.1:c.26394A>T (SYNE1) | XP_006715474.1:p.Pro8798= | |
| XM_006715412.1:c.26388A>T (SYNE1) | XP_006715475.1:p.Pro8796= | |
| XM_006715413.1:c.26376A>T (SYNE1) | XP_006715476.1:p.Pro8792= | |
| XM_006715414.1:c.26373A>T (SYNE1) | XP_006715477.1:p.Pro8791= | |
| XM_006715415.1:c.26334A>T (SYNE1) | XP_006715478.1:p.Pro8778= | |
| XM_006715416.1:c.26319A>T (SYNE1) | XP_006715479.1:p.Pro8773= | |
| XM_006715417.1:c.26304A>T (SYNE1) | XP_006715480.1:p.Pro8768= | |
| XM_006715420.1:c.26292A>T (SYNE1) | XP_006715483.1:p.Pro8764= | |
| XM_006715421.1:c.26289A>T (SYNE1) | XP_006715484.1:p.Pro8763= | |
| XM_006715422.1:c.26286A>T (SYNE1) | XP_006715485.1:p.Pro8762= | |
| XM_006715423.1:c.*109A>T (SYNE1) | XP_006715486.1:n.*109A>T | |
| XM_006715424.1:c.*109A>T (SYNE1) | XP_006715487.1:n.*109A>T | |
| XM_006715425.1:c.*109A>T (SYNE1) | XP_006715488.1:n.*109A>T | |
| XM_011535641.1:c.26442A>T (SYNE1) | XP_011533943.1:p.Pro8814= | |
| XM_011535642.1:c.26430A>T (SYNE1) | XP_011533944.1:p.Pro8810= | |
| XM_011535643.1:c.26280A>T (SYNE1) | XP_011533945.1:p.Pro8760= | |
| XM_011535644.1:c.24720A>T (SYNE1) | XP_011533946.1:p.Pro8240= | |
| XM_011535645.1:c.24213A>T (SYNE1) | XP_011533947.1:p.Pro8071= | |
| XM_011535647.1:c.19680A>T (SYNE1) | XP_011533949.1:p.Pro6560= | |
| NM_001328100.1:c.851-2734T>A (ESR1) | NP_001315029.1:n.851-2734T>A | |
| NM_001347701.1:c.*109A>T (SYNE1) | NP_001334630.1:n.*109A>T | |
| NM_001347702.1:c.2832A>T (SYNE1) | NP_001334631.1:p.Pro944= | |
| XM_006715408.2:c.26433A>T (SYNE1) | XP_006715471.1:p.Pro8811= | |
| XM_006715410.2:c.26403A>T (SYNE1) | XP_006715473.1:p.Pro8801= | |
| XM_006715412.2:c.26388A>T (SYNE1) | XP_006715475.1:p.Pro8796= | |
| XM_006715413.2:c.26376A>T (SYNE1) | XP_006715476.1:p.Pro8792= | |
| XM_006715415.2:c.26334A>T (SYNE1) | XP_006715478.1:p.Pro8778= | |
| XM_006715416.2:c.26319A>T (SYNE1) | XP_006715479.1:p.Pro8773= | |
| XM_006715417.2:c.26304A>T (SYNE1) | XP_006715480.1:p.Pro8768= | |
| XM_006715420.2:c.26292A>T (SYNE1) | XP_006715483.1:p.Pro8764= | |
| XM_006715421.2:c.26289A>T (SYNE1) | XP_006715484.1:p.Pro8763= | |
| XM_006715423.2:c.*109A>T (SYNE1) | XP_006715486.1:n.*109A>T | |
| XM_006715424.2:c.*109A>T (SYNE1) | XP_006715487.1:n.*109A>T | |
| XM_006715425.2:c.*109A>T (SYNE1) | XP_006715488.1:n.*109A>T | |
| XM_011535641.2:c.26442A>T (SYNE1) | XP_011533943.1:p.Pro8814= | |
| XM_011535642.2:c.26430A>T (SYNE1) | XP_011533944.1:p.Pro8810= | |
| XM_011535645.2:c.24213A>T (SYNE1) | XP_011533947.1:p.Pro8071= | |
| XM_017010608.1:c.26445A>T (SYNE1) | XP_016866097.1:p.Pro8815= | |
| XM_017010609.1:c.26445A>T (SYNE1) | XP_016866098.1:p.Pro8815= | |
| XM_017010610.1:c.26424A>T (SYNE1) | XP_016866099.1:p.Pro8808= | |
| XM_017010611.2:c.26418A>T (SYNE1) | XP_016866100.1:p.Pro8806= | |
| XM_017010612.1:c.26367A>T (SYNE1) | XP_016866101.1:p.Pro8789= | |
| XM_017010613.1:c.26331A>T (SYNE1) | XP_016866102.1:p.Pro8777= | |
| XM_017010614.1:c.26289A>T (SYNE1) | XP_016866103.1:p.Pro8763= | |
| XM_017010615.1:c.26178A>T (SYNE1) | XP_016866104.1:p.Pro8726= | |
| XM_017010616.1:c.*109A>T (SYNE1) | XP_016866105.1:n.*109A>T | |
| XM_017010617.1:c.*109A>T (SYNE1) | XP_016866106.1:n.*109A>T | |
| XM_017010618.1:c.*109A>T (SYNE1) | XP_016866107.1:n.*109A>T | |
| XM_017010619.1:c.24720A>T (SYNE1) | XP_016866108.1:p.Pro8240= | |
| NM_182961.4:c.26298A>T (SYNE1) MANE Select | NP_892006.3:p.Pro8766= | |
| NM_001328100.2:c.851-2734T>A (ESR1) | NP_001315029.1:n.851-2734T>A | |
| NM_001347701.2:c.*109A>T (SYNE1) | NP_001334630.1:n.*109A>T | |
| NM_001347702.2:c.2832A>T (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Pro944= | |
| NM_033071.5:c.26154A>T (SYNE1) | NP_149062.2:p.Pro8718= |