Linked Data
ClinVar Variation Id:
1077449
ClinVar RCV Id:
RCV001392027
dbSNP Id:
rs2152524493
gnomAD v4:
6-152122454-A-G
MyVariant Identifiers:
chr6:g.152443589A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122454A>G , CM000668.2:g.152122454A>G | GRCh38 |
| NC_000006.11:g.152443589A>G , CM000668.1:g.152443589A>G | GRCh37 |
| NC_000006.10:g.152485282A>G | NCBI36 |
| NG_012855.1:g.519946T>C | |
| NG_008493.2:g.470764A>G | |
| NG_012855.2:g.519946T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2910T>C (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Asn970= | |
| ENST00000367255.10:c.26376T>C (SYNE1) MANE Select | ENSP00000356224.5:p.Asn8792= | |
| ENST00000423061.6:c.26232T>C (SYNE1) | ENSP00000396024.1:p.Asn8744= | |
| ENST00000672154.1:c.1719T>C (SYNE1) | ||
| ENST00000672169.1:c.2094T>C (SYNE1) | ||
| ENST00000673173.1:c.1961T>C (SYNE1) | ||
| ENST00000673451.1:c.2226T>C (SYNE1) | ENSP00000500189.1:n.2226T>C | |
| ENST00000341594.9:c.25161T>C (SYNE1) | ENSP00000341887.6:p.Asn8387= | |
| ENST00000347037.9:n.3124T>C (SYNE1) | ||
| ENST00000354674.4:c.2910T>C (SYNE1) | ENSP00000346701.4:p.Asn970= | |
| ENST00000367251.7:c.5152T>C (SYNE1) | ENSP00000356220.3:n.5152T>C | |
| ENST00000367255.9:c.26376T>C (SYNE1) | ENSP00000356224.5:p.Asn8792= | |
| ENST00000367256.9:n.10068T>C (SYNE1) | ||
| ENST00000367257.8:c.4255T>C (SYNE1) | ENSP00000356226.4:n.4255T>C | |
| ENST00000409694.6:n.9960T>C (SYNE1) | ||
| ENST00000423061.5:c.26232T>C (SYNE1) | ENSP00000396024.1:p.Asn8744= | |
| ENST00000427531.6:c.851-2812A>G (ESR1) | ENSP00000394721.2:n.851-2812A>G | |
| ENST00000460912.6:n.2990T>C (SYNE1) | ||
| ENST00000478916.5:n.7013T>C (SYNE1) | ||
| ENST00000539504.5:c.2841T>C (SYNE1) | ENSP00000441052.1:p.Asn947= | |
| NM_033071.3:c.26232T>C (SYNE1) | NP_149062.1:p.Asn8744= | |
| NM_182961.3:c.26376T>C (SYNE1) | NP_892006.3:p.Asn8792= | |
| XM_006715407.1:c.26523T>C (SYNE1) | XP_006715470.1:p.Asn8841= | |
| XM_006715408.1:c.26511T>C (SYNE1) | XP_006715471.1:p.Asn8837= | |
| XM_006715409.1:c.26502T>C (SYNE1) | XP_006715472.1:p.Asn8834= | |
| XM_006715410.1:c.26481T>C (SYNE1) | XP_006715473.1:p.Asn8827= | |
| XM_006715411.1:c.26472T>C (SYNE1) | XP_006715474.1:p.Asn8824= | |
| XM_006715412.1:c.26466T>C (SYNE1) | XP_006715475.1:p.Asn8822= | |
| XM_006715413.1:c.26454T>C (SYNE1) | XP_006715476.1:p.Asn8818= | |
| XM_006715414.1:c.26451T>C (SYNE1) | XP_006715477.1:p.Asn8817= | |
| XM_006715415.1:c.26412T>C (SYNE1) | XP_006715478.1:p.Asn8804= | |
| XM_006715416.1:c.26397T>C (SYNE1) | XP_006715479.1:p.Asn8799= | |
| XM_006715417.1:c.26382T>C (SYNE1) | XP_006715480.1:p.Asn8794= | |
| XM_006715420.1:c.26370T>C (SYNE1) | XP_006715483.1:p.Asn8790= | |
| XM_006715421.1:c.26367T>C (SYNE1) | XP_006715484.1:p.Asn8789= | |
| XM_006715422.1:c.26364T>C (SYNE1) | XP_006715485.1:p.Asn8788= | |
| XM_006715423.1:c.*187T>C (SYNE1) | XP_006715486.1:n.*187T>C | |
| XM_006715424.1:c.*187T>C (SYNE1) | XP_006715487.1:n.*187T>C | |
| XM_006715425.1:c.*187T>C (SYNE1) | XP_006715488.1:n.*187T>C | |
| XM_011535641.1:c.26520T>C (SYNE1) | XP_011533943.1:p.Asn8840= | |
| XM_011535642.1:c.26508T>C (SYNE1) | XP_011533944.1:p.Asn8836= | |
| XM_011535643.1:c.26358T>C (SYNE1) | XP_011533945.1:p.Asn8786= | |
| XM_011535644.1:c.24798T>C (SYNE1) | XP_011533946.1:p.Asn8266= | |
| XM_011535645.1:c.24291T>C (SYNE1) | XP_011533947.1:p.Asn8097= | |
| XM_011535647.1:c.19758T>C (SYNE1) | XP_011533949.1:p.Asn6586= | |
| NM_001328100.1:c.851-2812A>G (ESR1) | NP_001315029.1:n.851-2812A>G | |
| NM_001347701.1:c.*187T>C (SYNE1) | NP_001334630.1:n.*187T>C | |
| NM_001347702.1:c.2910T>C (SYNE1) | NP_001334631.1:p.Asn970= | |
| XM_006715408.2:c.26511T>C (SYNE1) | XP_006715471.1:p.Asn8837= | |
| XM_006715410.2:c.26481T>C (SYNE1) | XP_006715473.1:p.Asn8827= | |
| XM_006715412.2:c.26466T>C (SYNE1) | XP_006715475.1:p.Asn8822= | |
| XM_006715413.2:c.26454T>C (SYNE1) | XP_006715476.1:p.Asn8818= | |
| XM_006715415.2:c.26412T>C (SYNE1) | XP_006715478.1:p.Asn8804= | |
| XM_006715416.2:c.26397T>C (SYNE1) | XP_006715479.1:p.Asn8799= | |
| XM_006715417.2:c.26382T>C (SYNE1) | XP_006715480.1:p.Asn8794= | |
| XM_006715420.2:c.26370T>C (SYNE1) | XP_006715483.1:p.Asn8790= | |
| XM_006715421.2:c.26367T>C (SYNE1) | XP_006715484.1:p.Asn8789= | |
| XM_006715423.2:c.*187T>C (SYNE1) | XP_006715486.1:n.*187T>C | |
| XM_006715424.2:c.*187T>C (SYNE1) | XP_006715487.1:n.*187T>C | |
| XM_006715425.2:c.*187T>C (SYNE1) | XP_006715488.1:n.*187T>C | |
| XM_011535641.2:c.26520T>C (SYNE1) | XP_011533943.1:p.Asn8840= | |
| XM_011535642.2:c.26508T>C (SYNE1) | XP_011533944.1:p.Asn8836= | |
| XM_011535645.2:c.24291T>C (SYNE1) | XP_011533947.1:p.Asn8097= | |
| XM_017010608.1:c.26523T>C (SYNE1) | XP_016866097.1:p.Asn8841= | |
| XM_017010609.1:c.26523T>C (SYNE1) | XP_016866098.1:p.Asn8841= | |
| XM_017010610.1:c.26502T>C (SYNE1) | XP_016866099.1:p.Asn8834= | |
| XM_017010611.2:c.26496T>C (SYNE1) | XP_016866100.1:p.Asn8832= | |
| XM_017010612.1:c.26445T>C (SYNE1) | XP_016866101.1:p.Asn8815= | |
| XM_017010613.1:c.26409T>C (SYNE1) | XP_016866102.1:p.Asn8803= | |
| XM_017010614.1:c.26367T>C (SYNE1) | XP_016866103.1:p.Asn8789= | |
| XM_017010615.1:c.26256T>C (SYNE1) | XP_016866104.1:p.Asn8752= | |
| XM_017010616.1:c.*187T>C (SYNE1) | XP_016866105.1:n.*187T>C | |
| XM_017010617.1:c.*187T>C (SYNE1) | XP_016866106.1:n.*187T>C | |
| XM_017010618.1:c.*187T>C (SYNE1) | XP_016866107.1:n.*187T>C | |
| XM_017010619.1:c.24798T>C (SYNE1) | XP_016866108.1:p.Asn8266= | |
| NM_182961.4:c.26376T>C (SYNE1) MANE Select | NP_892006.3:p.Asn8792= | |
| NM_001328100.2:c.851-2812A>G (ESR1) | NP_001315029.1:n.851-2812A>G | |
| NM_001347701.2:c.*187T>C (SYNE1) | NP_001334630.1:n.*187T>C | |
| NM_001347702.2:c.2910T>C (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Asn970= | |
| NM_033071.5:c.26232T>C (SYNE1) | NP_149062.2:p.Asn8744= |