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
dbSNP Id:
rs760376988
ExAC:
6:152443658 C / T
gnomAD v2:
6-152443658-C-T
gnomAD v4:
6-152122523-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122523C>T , CM000668.2:g.152122523C>T | GRCh38 |
| NC_000006.11:g.152443658C>T , CM000668.1:g.152443658C>T | GRCh37 |
| NC_000006.10:g.152485351C>T | NCBI36 |
| NG_012855.1:g.519877G>A | |
| NG_008493.2:g.470833C>T | |
| NG_012855.2:g.519877G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.2841G>A (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Glu947= | |
| ENST00000367255.10:c.26307G>A (SYNE1) MANE Select | ENSP00000356224.5:p.Glu8769= | |
| ENST00000423061.6:c.26163G>A (SYNE1) | ENSP00000396024.1:p.Glu8721= | |
| ENST00000672154.1:c.1650G>A (SYNE1) | ||
| ENST00000672169.1:c.2025G>A (SYNE1) | ||
| ENST00000673173.1:c.1892G>A (SYNE1) | ||
| ENST00000673451.1:c.2157G>A (SYNE1) | ENSP00000500189.1:n.2157G>A | |
| ENST00000341594.9:c.25092G>A (SYNE1) | ENSP00000341887.6:p.Glu8364= | |
| ENST00000347037.9:n.3055G>A (SYNE1) | ||
| ENST00000354674.4:c.2841G>A (SYNE1) | ENSP00000346701.4:p.Glu947= | |
| ENST00000367251.7:c.5083G>A (SYNE1) | ENSP00000356220.3:n.5083G>A | |
| ENST00000367255.9:c.26307G>A (SYNE1) | ENSP00000356224.5:p.Glu8769= | |
| ENST00000367256.9:n.9999G>A (SYNE1) | ||
| ENST00000367257.8:c.4186G>A (SYNE1) | ENSP00000356226.4:n.4186G>A | |
| ENST00000409694.6:n.9891G>A (SYNE1) | ||
| ENST00000423061.5:c.26163G>A (SYNE1) | ENSP00000396024.1:p.Glu8721= | |
| ENST00000427531.6:c.851-2743C>T (ESR1) | ENSP00000394721.2:n.851-2743C>T | |
| ENST00000460912.6:n.2921G>A (SYNE1) | ||
| ENST00000478916.5:n.6944G>A (SYNE1) | ||
| ENST00000539504.5:c.2772G>A (SYNE1) | ENSP00000441052.1:p.Glu924= | |
| NM_033071.3:c.26163G>A (SYNE1) | NP_149062.1:p.Glu8721= | |
| NM_182961.3:c.26307G>A (SYNE1) | NP_892006.3:p.Glu8769= | |
| XM_006715407.1:c.26454G>A (SYNE1) | XP_006715470.1:p.Glu8818= | |
| XM_006715408.1:c.26442G>A (SYNE1) | XP_006715471.1:p.Glu8814= | |
| XM_006715409.1:c.26433G>A (SYNE1) | XP_006715472.1:p.Glu8811= | |
| XM_006715410.1:c.26412G>A (SYNE1) | XP_006715473.1:p.Glu8804= | |
| XM_006715411.1:c.26403G>A (SYNE1) | XP_006715474.1:p.Glu8801= | |
| XM_006715412.1:c.26397G>A (SYNE1) | XP_006715475.1:p.Glu8799= | |
| XM_006715413.1:c.26385G>A (SYNE1) | XP_006715476.1:p.Glu8795= | |
| XM_006715414.1:c.26382G>A (SYNE1) | XP_006715477.1:p.Glu8794= | |
| XM_006715415.1:c.26343G>A (SYNE1) | XP_006715478.1:p.Glu8781= | |
| XM_006715416.1:c.26328G>A (SYNE1) | XP_006715479.1:p.Glu8776= | |
| XM_006715417.1:c.26313G>A (SYNE1) | XP_006715480.1:p.Glu8771= | |
| XM_006715420.1:c.26301G>A (SYNE1) | XP_006715483.1:p.Glu8767= | |
| XM_006715421.1:c.26298G>A (SYNE1) | XP_006715484.1:p.Glu8766= | |
| XM_006715422.1:c.26295G>A (SYNE1) | XP_006715485.1:p.Glu8765= | |
| XM_006715423.1:c.*118G>A (SYNE1) | XP_006715486.1:n.*118G>A | |
| XM_006715424.1:c.*118G>A (SYNE1) | XP_006715487.1:n.*118G>A | |
| XM_006715425.1:c.*118G>A (SYNE1) | XP_006715488.1:n.*118G>A | |
| XM_011535641.1:c.26451G>A (SYNE1) | XP_011533943.1:p.Glu8817= | |
| XM_011535642.1:c.26439G>A (SYNE1) | XP_011533944.1:p.Glu8813= | |
| XM_011535643.1:c.26289G>A (SYNE1) | XP_011533945.1:p.Glu8763= | |
| XM_011535644.1:c.24729G>A (SYNE1) | XP_011533946.1:p.Glu8243= | |
| XM_011535645.1:c.24222G>A (SYNE1) | XP_011533947.1:p.Glu8074= | |
| XM_011535647.1:c.19689G>A (SYNE1) | XP_011533949.1:p.Glu6563= | |
| NM_001328100.1:c.851-2743C>T (ESR1) | NP_001315029.1:n.851-2743C>T | |
| NM_001347701.1:c.*118G>A (SYNE1) | NP_001334630.1:n.*118G>A | |
| NM_001347702.1:c.2841G>A (SYNE1) | NP_001334631.1:p.Glu947= | |
| XM_006715408.2:c.26442G>A (SYNE1) | XP_006715471.1:p.Glu8814= | |
| XM_006715410.2:c.26412G>A (SYNE1) | XP_006715473.1:p.Glu8804= | |
| XM_006715412.2:c.26397G>A (SYNE1) | XP_006715475.1:p.Glu8799= | |
| XM_006715413.2:c.26385G>A (SYNE1) | XP_006715476.1:p.Glu8795= | |
| XM_006715415.2:c.26343G>A (SYNE1) | XP_006715478.1:p.Glu8781= | |
| XM_006715416.2:c.26328G>A (SYNE1) | XP_006715479.1:p.Glu8776= | |
| XM_006715417.2:c.26313G>A (SYNE1) | XP_006715480.1:p.Glu8771= | |
| XM_006715420.2:c.26301G>A (SYNE1) | XP_006715483.1:p.Glu8767= | |
| XM_006715421.2:c.26298G>A (SYNE1) | XP_006715484.1:p.Glu8766= | |
| XM_006715423.2:c.*118G>A (SYNE1) | XP_006715486.1:n.*118G>A | |
| XM_006715424.2:c.*118G>A (SYNE1) | XP_006715487.1:n.*118G>A | |
| XM_006715425.2:c.*118G>A (SYNE1) | XP_006715488.1:n.*118G>A | |
| XM_011535641.2:c.26451G>A (SYNE1) | XP_011533943.1:p.Glu8817= | |
| XM_011535642.2:c.26439G>A (SYNE1) | XP_011533944.1:p.Glu8813= | |
| XM_011535645.2:c.24222G>A (SYNE1) | XP_011533947.1:p.Glu8074= | |
| XM_017010608.1:c.26454G>A (SYNE1) | XP_016866097.1:p.Glu8818= | |
| XM_017010609.1:c.26454G>A (SYNE1) | XP_016866098.1:p.Glu8818= | |
| XM_017010610.1:c.26433G>A (SYNE1) | XP_016866099.1:p.Glu8811= | |
| XM_017010611.2:c.26427G>A (SYNE1) | XP_016866100.1:p.Glu8809= | |
| XM_017010612.1:c.26376G>A (SYNE1) | XP_016866101.1:p.Glu8792= | |
| XM_017010613.1:c.26340G>A (SYNE1) | XP_016866102.1:p.Glu8780= | |
| XM_017010614.1:c.26298G>A (SYNE1) | XP_016866103.1:p.Glu8766= | |
| XM_017010615.1:c.26187G>A (SYNE1) | XP_016866104.1:p.Glu8729= | |
| XM_017010616.1:c.*118G>A (SYNE1) | XP_016866105.1:n.*118G>A | |
| XM_017010617.1:c.*118G>A (SYNE1) | XP_016866106.1:n.*118G>A | |
| XM_017010618.1:c.*118G>A (SYNE1) | XP_016866107.1:n.*118G>A | |
| XM_017010619.1:c.24729G>A (SYNE1) | XP_016866108.1:p.Glu8243= | |
| NM_182961.4:c.26307G>A (SYNE1) MANE Select | NP_892006.3:p.Glu8769= | |
| NM_001328100.2:c.851-2743C>T (ESR1) | NP_001315029.1:n.851-2743C>T | |
| NM_001347701.2:c.*118G>A (SYNE1) | NP_001334630.1:n.*118G>A | |
| NM_001347702.2:c.2841G>A (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Glu947= | |
| NM_033071.5:c.26163G>A (SYNE1) | NP_149062.2:p.Glu8721= |