Linked Data
ClinVar Variation Id:
1024748
ClinVar RCV Id:
RCV001324972
dbSNP Id:
rs780574537
ExAC:
6:152443750 C / T
gnomAD v2:
6-152443750-C-T
gnomAD v3:
6-152122615-C-T
gnomAD v4:
6-152122615-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122615C>T , CM000668.2:g.152122615C>T | GRCh38 |
| NC_000006.11:g.152443750C>T , CM000668.1:g.152443750C>T | GRCh37 |
| NC_000006.10:g.152485443C>T | NCBI36 |
| NG_012855.1:g.519785G>A | |
| NG_008493.2:g.470925C>T | |
| NG_012855.2:g.519785G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.2749G>A (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Gly917Ser | |
| ENST00000367255.10:c.26215G>A (SYNE1) MANE Select | ENSP00000356224.5:p.Gly8739Ser | |
| ENST00000423061.6:c.26071G>A (SYNE1) | ENSP00000396024.1:p.Gly8691Ser | |
| ENST00000672154.1:c.1558G>A (SYNE1) | ||
| ENST00000672169.1:c.1933G>A (SYNE1) | ||
| ENST00000673173.1:c.1800G>A (SYNE1) | ||
| ENST00000673451.1:c.2065G>A (SYNE1) | ENSP00000500189.1:n.2065G>A | |
| ENST00000341594.9:c.25000G>A (SYNE1) | ENSP00000341887.6:p.Gly8334Ser | |
| ENST00000347037.9:n.2963G>A (SYNE1) | ||
| ENST00000354674.4:c.2749G>A (SYNE1) | ENSP00000346701.4:p.Gly917Ser | |
| ENST00000367251.7:c.4991G>A (SYNE1) | ENSP00000356220.3:n.4991G>A | |
| ENST00000367255.9:c.26215G>A (SYNE1) | ENSP00000356224.5:p.Gly8739Ser | |
| ENST00000367256.9:n.9907G>A (SYNE1) | ||
| ENST00000367257.8:c.4094G>A (SYNE1) | ENSP00000356226.4:n.4094G>A | |
| ENST00000409694.6:n.9799G>A (SYNE1) | ||
| ENST00000423061.5:c.26071G>A (SYNE1) | ENSP00000396024.1:p.Gly8691Ser | |
| ENST00000427531.6:c.851-2651C>T (ESR1) | ENSP00000394721.2:n.851-2651C>T | |
| ENST00000460912.6:n.2829G>A (SYNE1) | ||
| ENST00000478916.5:n.6852G>A (SYNE1) | ||
| ENST00000536990.5:n.2993G>A (SYNE1) | ||
| ENST00000539504.5:c.2680G>A (SYNE1) | ENSP00000441052.1:p.Gly894Ser | |
| NM_033071.3:c.26071G>A (SYNE1) | NP_149062.1:p.Gly8691Ser | |
| NM_182961.3:c.26215G>A (SYNE1) | NP_892006.3:p.Gly8739Ser | |
| XM_006715407.1:c.26362G>A (SYNE1) | XP_006715470.1:p.Gly8788Ser | |
| XM_006715408.1:c.26350G>A (SYNE1) | XP_006715471.1:p.Gly8784Ser | |
| XM_006715409.1:c.26341G>A (SYNE1) | XP_006715472.1:p.Gly8781Ser | |
| XM_006715410.1:c.26320G>A (SYNE1) | XP_006715473.1:p.Gly8774Ser | |
| XM_006715411.1:c.26311G>A (SYNE1) | XP_006715474.1:p.Gly8771Ser | |
| XM_006715412.1:c.26305G>A (SYNE1) | XP_006715475.1:p.Gly8769Ser | |
| XM_006715413.1:c.26293G>A (SYNE1) | XP_006715476.1:p.Gly8765Ser | |
| XM_006715414.1:c.26290G>A (SYNE1) | XP_006715477.1:p.Gly8764Ser | |
| XM_006715415.1:c.26251G>A (SYNE1) | XP_006715478.1:p.Gly8751Ser | |
| XM_006715416.1:c.26236G>A (SYNE1) | XP_006715479.1:p.Gly8746Ser | |
| XM_006715417.1:c.26221G>A (SYNE1) | XP_006715480.1:p.Gly8741Ser | |
| XM_006715420.1:c.26209G>A (SYNE1) | XP_006715483.1:p.Gly8737Ser | |
| XM_006715421.1:c.26206G>A (SYNE1) | XP_006715484.1:p.Gly8736Ser | |
| XM_006715422.1:c.26203G>A (SYNE1) | XP_006715485.1:p.Gly8735Ser | |
| XM_006715423.1:c.*26G>A (SYNE1) | XP_006715486.1:n.*26G>A | |
| XM_006715424.1:c.*26G>A (SYNE1) | XP_006715487.1:n.*26G>A | |
| XM_006715425.1:c.*26G>A (SYNE1) | XP_006715488.1:n.*26G>A | |
| XM_011535641.1:c.26359G>A (SYNE1) | XP_011533943.1:p.Gly8787Ser | |
| XM_011535642.1:c.26347G>A (SYNE1) | XP_011533944.1:p.Gly8783Ser | |
| XM_011535643.1:c.26197G>A (SYNE1) | XP_011533945.1:p.Gly8733Ser | |
| XM_011535644.1:c.24637G>A (SYNE1) | XP_011533946.1:p.Gly8213Ser | |
| XM_011535645.1:c.24130G>A (SYNE1) | XP_011533947.1:p.Gly8044Ser | |
| XM_011535647.1:c.19597G>A (SYNE1) | XP_011533949.1:p.Gly6533Ser | |
| NM_001328100.1:c.851-2651C>T (ESR1) | NP_001315029.1:n.851-2651C>T | |
| NM_001347701.1:c.*26G>A (SYNE1) | NP_001334630.1:n.*26G>A | |
| NM_001347702.1:c.2749G>A (SYNE1) | NP_001334631.1:p.Gly917Ser | |
| XM_006715408.2:c.26350G>A (SYNE1) | XP_006715471.1:p.Gly8784Ser | |
| XM_006715410.2:c.26320G>A (SYNE1) | XP_006715473.1:p.Gly8774Ser | |
| XM_006715412.2:c.26305G>A (SYNE1) | XP_006715475.1:p.Gly8769Ser | |
| XM_006715413.2:c.26293G>A (SYNE1) | XP_006715476.1:p.Gly8765Ser | |
| XM_006715415.2:c.26251G>A (SYNE1) | XP_006715478.1:p.Gly8751Ser | |
| XM_006715416.2:c.26236G>A (SYNE1) | XP_006715479.1:p.Gly8746Ser | |
| XM_006715417.2:c.26221G>A (SYNE1) | XP_006715480.1:p.Gly8741Ser | |
| XM_006715420.2:c.26209G>A (SYNE1) | XP_006715483.1:p.Gly8737Ser | |
| XM_006715421.2:c.26206G>A (SYNE1) | XP_006715484.1:p.Gly8736Ser | |
| XM_006715423.2:c.*26G>A (SYNE1) | XP_006715486.1:n.*26G>A | |
| XM_006715424.2:c.*26G>A (SYNE1) | XP_006715487.1:n.*26G>A | |
| XM_006715425.2:c.*26G>A (SYNE1) | XP_006715488.1:n.*26G>A | |
| XM_011535641.2:c.26359G>A (SYNE1) | XP_011533943.1:p.Gly8787Ser | |
| XM_011535642.2:c.26347G>A (SYNE1) | XP_011533944.1:p.Gly8783Ser | |
| XM_011535645.2:c.24130G>A (SYNE1) | XP_011533947.1:p.Gly8044Ser | |
| XM_017010608.1:c.26362G>A (SYNE1) | XP_016866097.1:p.Gly8788Ser | |
| XM_017010609.1:c.26362G>A (SYNE1) | XP_016866098.1:p.Gly8788Ser | |
| XM_017010610.1:c.26341G>A (SYNE1) | XP_016866099.1:p.Gly8781Ser | |
| XM_017010611.2:c.26335G>A (SYNE1) | XP_016866100.1:p.Gly8779Ser | |
| XM_017010612.1:c.26284G>A (SYNE1) | XP_016866101.1:p.Gly8762Ser | |
| XM_017010613.1:c.26248G>A (SYNE1) | XP_016866102.1:p.Gly8750Ser | |
| XM_017010614.1:c.26206G>A (SYNE1) | XP_016866103.1:p.Gly8736Ser | |
| XM_017010615.1:c.26095G>A (SYNE1) | XP_016866104.1:p.Gly8699Ser | |
| XM_017010616.1:c.*26G>A (SYNE1) | XP_016866105.1:n.*26G>A | |
| XM_017010617.1:c.*26G>A (SYNE1) | XP_016866106.1:n.*26G>A | |
| XM_017010618.1:c.*26G>A (SYNE1) | XP_016866107.1:n.*26G>A | |
| XM_017010619.1:c.24637G>A (SYNE1) | XP_016866108.1:p.Gly8213Ser | |
| NM_182961.4:c.26215G>A (SYNE1) MANE Select | NP_892006.3:p.Gly8739Ser | |
| NM_001328100.2:c.851-2651C>T (ESR1) | NP_001315029.1:n.851-2651C>T | |
| NM_001347701.2:c.*26G>A (SYNE1) | NP_001334630.1:n.*26G>A | |
| NM_001347702.2:c.2749G>A (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Gly917Ser | |
| NM_033071.5:c.26071G>A (SYNE1) | NP_149062.2:p.Gly8691Ser |