Linked Data
ClinVar Variation Id:
2933119
ClinVar RCV Id:
RCV003790237
dbSNP Id:
rs551962186
ExAC:
6:152443793 G / A
gnomAD v2:
6-152443793-G-A
gnomAD v3:
6-152122658-G-A
gnomAD v4:
6-152122658-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122658G>A , CM000668.2:g.152122658G>A | GRCh38 |
| NC_000006.11:g.152443793G>A , CM000668.1:g.152443793G>A | GRCh37 |
| NC_000006.10:g.152485486G>A | NCBI36 |
| NG_012855.1:g.519742C>T | |
| NG_008493.2:g.470968G>A | |
| NG_012855.2:g.519742C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2706C>T (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Ser902= | |
| ENST00000367255.10:c.26172C>T (SYNE1) MANE Select | ENSP00000356224.5:p.Ser8724= | |
| ENST00000423061.6:c.26028C>T (SYNE1) | ENSP00000396024.1:p.Ser8676= | |
| ENST00000672154.1:c.1515C>T (SYNE1) | ||
| ENST00000672169.1:c.1890C>T (SYNE1) | ||
| ENST00000673173.1:c.1757C>T (SYNE1) | ||
| ENST00000673451.1:c.2022C>T (SYNE1) | ENSP00000500189.1:n.2022C>T | |
| ENST00000341594.9:c.24957C>T (SYNE1) | ENSP00000341887.6:p.Ser8319= | |
| ENST00000347037.9:n.2920C>T (SYNE1) | ||
| ENST00000354674.4:c.2706C>T (SYNE1) | ENSP00000346701.4:p.Ser902= | |
| ENST00000367251.7:c.4948C>T (SYNE1) | ENSP00000356220.3:p.Arg1650Ter | |
| ENST00000367255.9:c.26172C>T (SYNE1) | ENSP00000356224.5:p.Ser8724= | |
| ENST00000367256.9:n.9864C>T (SYNE1) | ||
| ENST00000367257.8:c.4051C>T (SYNE1) | ENSP00000356226.4:p.Arg1351Ter | |
| ENST00000409694.6:n.9756C>T (SYNE1) | ||
| ENST00000423061.5:c.26028C>T (SYNE1) | ENSP00000396024.1:p.Ser8676= | |
| ENST00000427531.6:c.851-2608G>A (ESR1) | ENSP00000394721.2:n.851-2608G>A | |
| ENST00000460912.6:n.2786C>T (SYNE1) | ||
| ENST00000478916.5:n.6809C>T (SYNE1) | ||
| ENST00000536990.5:n.2950C>T (SYNE1) | ||
| ENST00000539504.5:c.2637C>T (SYNE1) | ENSP00000441052.1:p.Ser879= | |
| NM_033071.3:c.26028C>T (SYNE1) | NP_149062.1:p.Ser8676= | |
| NM_182961.3:c.26172C>T (SYNE1) | NP_892006.3:p.Ser8724= | |
| XM_006715407.1:c.26319C>T (SYNE1) | XP_006715470.1:p.Ser8773= | |
| XM_006715408.1:c.26307C>T (SYNE1) | XP_006715471.1:p.Ser8769= | |
| XM_006715409.1:c.26298C>T (SYNE1) | XP_006715472.1:p.Ser8766= | |
| XM_006715410.1:c.26277C>T (SYNE1) | XP_006715473.1:p.Ser8759= | |
| XM_006715411.1:c.26268C>T (SYNE1) | XP_006715474.1:p.Ser8756= | |
| XM_006715412.1:c.26262C>T (SYNE1) | XP_006715475.1:p.Ser8754= | |
| XM_006715413.1:c.26250C>T (SYNE1) | XP_006715476.1:p.Ser8750= | |
| XM_006715414.1:c.26247C>T (SYNE1) | XP_006715477.1:p.Ser8749= | |
| XM_006715415.1:c.26208C>T (SYNE1) | XP_006715478.1:p.Ser8736= | |
| XM_006715416.1:c.26193C>T (SYNE1) | XP_006715479.1:p.Ser8731= | |
| XM_006715417.1:c.26178C>T (SYNE1) | XP_006715480.1:p.Ser8726= | |
| XM_006715420.1:c.26166C>T (SYNE1) | XP_006715483.1:p.Ser8722= | |
| XM_006715421.1:c.26163C>T (SYNE1) | XP_006715484.1:p.Ser8721= | |
| XM_006715422.1:c.26160C>T (SYNE1) | XP_006715485.1:p.Ser8720= | |
| XM_006715423.1:c.26260C>T (SYNE1) | XP_006715486.1:p.Arg8754Ter | |
| XM_006715424.1:c.26218C>T (SYNE1) | XP_006715487.1:p.Arg8740Ter | |
| XM_006715425.1:c.26149C>T (SYNE1) | XP_006715488.1:p.Arg8717Ter | |
| XM_011535641.1:c.26316C>T (SYNE1) | XP_011533943.1:p.Ser8772= | |
| XM_011535642.1:c.26304C>T (SYNE1) | XP_011533944.1:p.Ser8768= | |
| XM_011535643.1:c.26154C>T (SYNE1) | XP_011533945.1:p.Ser8718= | |
| XM_011535644.1:c.24594C>T (SYNE1) | XP_011533946.1:p.Ser8198= | |
| XM_011535645.1:c.24087C>T (SYNE1) | XP_011533947.1:p.Ser8029= | |
| XM_011535647.1:c.19554C>T (SYNE1) | XP_011533949.1:p.Ser6518= | |
| NM_001328100.1:c.851-2608G>A (ESR1) | NP_001315029.1:n.851-2608G>A | |
| NM_001347701.1:c.2719C>T (SYNE1) | NP_001334630.1:p.Arg907Ter | |
| NM_001347702.1:c.2706C>T (SYNE1) | NP_001334631.1:p.Ser902= | |
| XM_006715408.2:c.26307C>T (SYNE1) | XP_006715471.1:p.Ser8769= | |
| XM_006715410.2:c.26277C>T (SYNE1) | XP_006715473.1:p.Ser8759= | |
| XM_006715412.2:c.26262C>T (SYNE1) | XP_006715475.1:p.Ser8754= | |
| XM_006715413.2:c.26250C>T (SYNE1) | XP_006715476.1:p.Ser8750= | |
| XM_006715415.2:c.26208C>T (SYNE1) | XP_006715478.1:p.Ser8736= | |
| XM_006715416.2:c.26193C>T (SYNE1) | XP_006715479.1:p.Ser8731= | |
| XM_006715417.2:c.26178C>T (SYNE1) | XP_006715480.1:p.Ser8726= | |
| XM_006715420.2:c.26166C>T (SYNE1) | XP_006715483.1:p.Ser8722= | |
| XM_006715421.2:c.26163C>T (SYNE1) | XP_006715484.1:p.Ser8721= | |
| XM_006715423.2:c.26260C>T (SYNE1) | XP_006715486.1:p.Arg8754Ter | |
| XM_006715424.2:c.26218C>T (SYNE1) | XP_006715487.1:p.Arg8740Ter | |
| XM_006715425.2:c.26149C>T (SYNE1) | XP_006715488.1:p.Arg8717Ter | |
| XM_011535641.2:c.26316C>T (SYNE1) | XP_011533943.1:p.Ser8772= | |
| XM_011535642.2:c.26304C>T (SYNE1) | XP_011533944.1:p.Ser8768= | |
| XM_011535645.2:c.24087C>T (SYNE1) | XP_011533947.1:p.Ser8029= | |
| XM_017010608.1:c.26319C>T (SYNE1) | XP_016866097.1:p.Ser8773= | |
| XM_017010609.1:c.26319C>T (SYNE1) | XP_016866098.1:p.Ser8773= | |
| XM_017010610.1:c.26298C>T (SYNE1) | XP_016866099.1:p.Ser8766= | |
| XM_017010611.2:c.26292C>T (SYNE1) | XP_016866100.1:p.Ser8764= | |
| XM_017010612.1:c.26241C>T (SYNE1) | XP_016866101.1:p.Ser8747= | |
| XM_017010613.1:c.26205C>T (SYNE1) | XP_016866102.1:p.Ser8735= | |
| XM_017010614.1:c.26163C>T (SYNE1) | XP_016866103.1:p.Ser8721= | |
| XM_017010615.1:c.26052C>T (SYNE1) | XP_016866104.1:p.Ser8684= | |
| XM_017010616.1:c.26191C>T (SYNE1) | XP_016866105.1:p.Arg8731Ter | |
| XM_017010617.1:c.26146C>T (SYNE1) | XP_016866106.1:p.Arg8716Ter | |
| XM_017010618.1:c.26134C>T (SYNE1) | XP_016866107.1:p.Arg8712Ter | |
| XM_017010619.1:c.24594C>T (SYNE1) | XP_016866108.1:p.Ser8198= | |
| NM_182961.4:c.26172C>T (SYNE1) MANE Select | NP_892006.3:p.Ser8724= | |
| NM_001328100.2:c.851-2608G>A (ESR1) | NP_001315029.1:n.851-2608G>A | |
| NM_001347701.2:c.2719C>T (SYNE1) | NP_001334630.1:p.Arg907Ter | |
| NM_001347702.2:c.2706C>T (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Ser902= | |
| NM_033071.5:c.26028C>T (SYNE1) | NP_149062.2:p.Ser8676= |