Linked Data
ClinVar Variation Id:
1807208
ClinVar RCV Id:
RCV002475165
dbSNP Id:
rs780263411
ExAC:
6:152443807 T / A
gnomAD v2:
6-152443807-T-A
gnomAD v3:
6-152122672-T-A
gnomAD v4:
6-152122672-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122672T>A , CM000668.2:g.152122672T>A | GRCh38 |
| NC_000006.11:g.152443807T>A , CM000668.1:g.152443807T>A | GRCh37 |
| NC_000006.10:g.152485500T>A | NCBI36 |
| NG_012855.1:g.519728A>T | |
| NG_008493.2:g.470982T>A | |
| NG_012855.2:g.519728A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2692A>T (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Thr898Ser | |
| ENST00000367255.10:c.26158A>T (SYNE1) MANE Select | ENSP00000356224.5:p.Thr8720Ser | |
| ENST00000423061.6:c.26014A>T (SYNE1) | ENSP00000396024.1:p.Thr8672Ser | |
| ENST00000672154.1:c.1501A>T (SYNE1) | ||
| ENST00000672169.1:c.1876A>T (SYNE1) | ||
| ENST00000673173.1:c.1743A>T (SYNE1) | ||
| ENST00000673451.1:c.2008A>T (SYNE1) | ENSP00000500189.1:n.2008A>T | |
| ENST00000341594.9:c.24943A>T (SYNE1) | ENSP00000341887.6:p.Thr8315Ser | |
| ENST00000347037.9:n.2906A>T (SYNE1) | ||
| ENST00000354674.4:c.2692A>T (SYNE1) | ENSP00000346701.4:p.Thr898Ser | |
| ENST00000367251.7:c.4934A>T (SYNE1) | ENSP00000356220.3:p.His1645Leu | |
| ENST00000367255.9:c.26158A>T (SYNE1) | ENSP00000356224.5:p.Thr8720Ser | |
| ENST00000367256.9:n.9850A>T (SYNE1) | ||
| ENST00000367257.8:c.4037A>T (SYNE1) | ENSP00000356226.4:p.His1346Leu | |
| ENST00000409694.6:n.9742A>T (SYNE1) | ||
| ENST00000423061.5:c.26014A>T (SYNE1) | ENSP00000396024.1:p.Thr8672Ser | |
| ENST00000427531.6:c.851-2594T>A (ESR1) | ENSP00000394721.2:n.851-2594T>A | |
| ENST00000460912.6:n.2772A>T (SYNE1) | ||
| ENST00000478916.5:n.6795A>T (SYNE1) | ||
| ENST00000536990.5:n.2936A>T (SYNE1) | ||
| ENST00000539504.5:c.2623A>T (SYNE1) | ENSP00000441052.1:p.Thr875Ser | |
| NM_033071.3:c.26014A>T (SYNE1) | NP_149062.1:p.Thr8672Ser | |
| NM_182961.3:c.26158A>T (SYNE1) | NP_892006.3:p.Thr8720Ser | |
| XM_006715407.1:c.26305A>T (SYNE1) | XP_006715470.1:p.Thr8769Ser | |
| XM_006715408.1:c.26293A>T (SYNE1) | XP_006715471.1:p.Thr8765Ser | |
| XM_006715409.1:c.26284A>T (SYNE1) | XP_006715472.1:p.Thr8762Ser | |
| XM_006715410.1:c.26263A>T (SYNE1) | XP_006715473.1:p.Thr8755Ser | |
| XM_006715411.1:c.26254A>T (SYNE1) | XP_006715474.1:p.Thr8752Ser | |
| XM_006715412.1:c.26248A>T (SYNE1) | XP_006715475.1:p.Thr8750Ser | |
| XM_006715413.1:c.26236A>T (SYNE1) | XP_006715476.1:p.Thr8746Ser | |
| XM_006715414.1:c.26233A>T (SYNE1) | XP_006715477.1:p.Thr8745Ser | |
| XM_006715415.1:c.26194A>T (SYNE1) | XP_006715478.1:p.Thr8732Ser | |
| XM_006715416.1:c.26179A>T (SYNE1) | XP_006715479.1:p.Thr8727Ser | |
| XM_006715417.1:c.26164A>T (SYNE1) | XP_006715480.1:p.Thr8722Ser | |
| XM_006715420.1:c.26152A>T (SYNE1) | XP_006715483.1:p.Thr8718Ser | |
| XM_006715421.1:c.26149A>T (SYNE1) | XP_006715484.1:p.Thr8717Ser | |
| XM_006715422.1:c.26146A>T (SYNE1) | XP_006715485.1:p.Thr8716Ser | |
| XM_006715423.1:c.26246A>T (SYNE1) | XP_006715486.1:p.His8749Leu | |
| XM_006715424.1:c.26204A>T (SYNE1) | XP_006715487.1:p.His8735Leu | |
| XM_006715425.1:c.26135A>T (SYNE1) | XP_006715488.1:p.His8712Leu | |
| XM_011535641.1:c.26302A>T (SYNE1) | XP_011533943.1:p.Thr8768Ser | |
| XM_011535642.1:c.26290A>T (SYNE1) | XP_011533944.1:p.Thr8764Ser | |
| XM_011535643.1:c.26140A>T (SYNE1) | XP_011533945.1:p.Thr8714Ser | |
| XM_011535644.1:c.24580A>T (SYNE1) | XP_011533946.1:p.Thr8194Ser | |
| XM_011535645.1:c.24073A>T (SYNE1) | XP_011533947.1:p.Thr8025Ser | |
| XM_011535647.1:c.19540A>T (SYNE1) | XP_011533949.1:p.Thr6514Ser | |
| NM_001328100.1:c.851-2594T>A (ESR1) | NP_001315029.1:n.851-2594T>A | |
| NM_001347701.1:c.2705A>T (SYNE1) | NP_001334630.1:p.His902Leu | |
| NM_001347702.1:c.2692A>T (SYNE1) | NP_001334631.1:p.Thr898Ser | |
| XM_006715408.2:c.26293A>T (SYNE1) | XP_006715471.1:p.Thr8765Ser | |
| XM_006715410.2:c.26263A>T (SYNE1) | XP_006715473.1:p.Thr8755Ser | |
| XM_006715412.2:c.26248A>T (SYNE1) | XP_006715475.1:p.Thr8750Ser | |
| XM_006715413.2:c.26236A>T (SYNE1) | XP_006715476.1:p.Thr8746Ser | |
| XM_006715415.2:c.26194A>T (SYNE1) | XP_006715478.1:p.Thr8732Ser | |
| XM_006715416.2:c.26179A>T (SYNE1) | XP_006715479.1:p.Thr8727Ser | |
| XM_006715417.2:c.26164A>T (SYNE1) | XP_006715480.1:p.Thr8722Ser | |
| XM_006715420.2:c.26152A>T (SYNE1) | XP_006715483.1:p.Thr8718Ser | |
| XM_006715421.2:c.26149A>T (SYNE1) | XP_006715484.1:p.Thr8717Ser | |
| XM_006715423.2:c.26246A>T (SYNE1) | XP_006715486.1:p.His8749Leu | |
| XM_006715424.2:c.26204A>T (SYNE1) | XP_006715487.1:p.His8735Leu | |
| XM_006715425.2:c.26135A>T (SYNE1) | XP_006715488.1:p.His8712Leu | |
| XM_011535641.2:c.26302A>T (SYNE1) | XP_011533943.1:p.Thr8768Ser | |
| XM_011535642.2:c.26290A>T (SYNE1) | XP_011533944.1:p.Thr8764Ser | |
| XM_011535645.2:c.24073A>T (SYNE1) | XP_011533947.1:p.Thr8025Ser | |
| XM_017010608.1:c.26305A>T (SYNE1) | XP_016866097.1:p.Thr8769Ser | |
| XM_017010609.1:c.26305A>T (SYNE1) | XP_016866098.1:p.Thr8769Ser | |
| XM_017010610.1:c.26284A>T (SYNE1) | XP_016866099.1:p.Thr8762Ser | |
| XM_017010611.2:c.26278A>T (SYNE1) | XP_016866100.1:p.Thr8760Ser | |
| XM_017010612.1:c.26227A>T (SYNE1) | XP_016866101.1:p.Thr8743Ser | |
| XM_017010613.1:c.26191A>T (SYNE1) | XP_016866102.1:p.Thr8731Ser | |
| XM_017010614.1:c.26149A>T (SYNE1) | XP_016866103.1:p.Thr8717Ser | |
| XM_017010615.1:c.26038A>T (SYNE1) | XP_016866104.1:p.Thr8680Ser | |
| XM_017010616.1:c.26177A>T (SYNE1) | XP_016866105.1:p.His8726Leu | |
| XM_017010617.1:c.26132A>T (SYNE1) | XP_016866106.1:p.His8711Leu | |
| XM_017010618.1:c.26120A>T (SYNE1) | XP_016866107.1:p.His8707Leu | |
| XM_017010619.1:c.24580A>T (SYNE1) | XP_016866108.1:p.Thr8194Ser | |
| NM_182961.4:c.26158A>T (SYNE1) MANE Select | NP_892006.3:p.Thr8720Ser | |
| NM_001328100.2:c.851-2594T>A (ESR1) | NP_001315029.1:n.851-2594T>A | |
| NM_001347701.2:c.2705A>T (SYNE1) | NP_001334630.1:p.His902Leu | |
| NM_001347702.2:c.2692A>T (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Thr898Ser | |
| NM_033071.5:c.26014A>T (SYNE1) | NP_149062.2:p.Thr8672Ser |