Linked Data
ClinVar Variation Id:
2436645
ClinVar RCV Id:
RCV003138981
dbSNP Id:
rs894581389
gnomAD v2:
6-152443621-G-C
gnomAD v3:
6-152122486-G-C
gnomAD v4:
6-152122486-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122486G>C , CM000668.2:g.152122486G>C | GRCh38 |
| NC_000006.11:g.152443621G>C , CM000668.1:g.152443621G>C | GRCh37 |
| NC_000006.10:g.152485314G>C | NCBI36 |
| NG_012855.1:g.519914C>G | |
| NG_008493.2:g.470796G>C | |
| NG_012855.2:g.519914C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2878C>G (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Arg960Gly | |
| ENST00000367255.10:c.26344C>G (SYNE1) MANE Select | ENSP00000356224.5:p.Arg8782Gly | |
| ENST00000423061.6:c.26200C>G (SYNE1) | ENSP00000396024.1:p.Arg8734Gly | |
| ENST00000672154.1:c.1687C>G (SYNE1) | ||
| ENST00000672169.1:c.2062C>G (SYNE1) | ||
| ENST00000673173.1:c.1929C>G (SYNE1) | ||
| ENST00000673451.1:c.2194C>G (SYNE1) | ENSP00000500189.1:n.2194C>G | |
| ENST00000341594.9:c.25129C>G (SYNE1) | ENSP00000341887.6:p.Arg8377Gly | |
| ENST00000347037.9:n.3092C>G (SYNE1) | ||
| ENST00000354674.4:c.2878C>G (SYNE1) | ENSP00000346701.4:p.Arg960Gly | |
| ENST00000367251.7:c.5120C>G (SYNE1) | ENSP00000356220.3:n.5120C>G | |
| ENST00000367255.9:c.26344C>G (SYNE1) | ENSP00000356224.5:p.Arg8782Gly | |
| ENST00000367256.9:n.10036C>G (SYNE1) | ||
| ENST00000367257.8:c.4223C>G (SYNE1) | ENSP00000356226.4:n.4223C>G | |
| ENST00000409694.6:n.9928C>G (SYNE1) | ||
| ENST00000423061.5:c.26200C>G (SYNE1) | ENSP00000396024.1:p.Arg8734Gly | |
| ENST00000427531.6:c.851-2780G>C (ESR1) | ENSP00000394721.2:n.851-2780G>C | |
| ENST00000460912.6:n.2958C>G (SYNE1) | ||
| ENST00000478916.5:n.6981C>G (SYNE1) | ||
| ENST00000539504.5:c.2809C>G (SYNE1) | ENSP00000441052.1:p.Arg937Gly | |
| NM_033071.3:c.26200C>G (SYNE1) | NP_149062.1:p.Arg8734Gly | |
| NM_182961.3:c.26344C>G (SYNE1) | NP_892006.3:p.Arg8782Gly | |
| XM_006715407.1:c.26491C>G (SYNE1) | XP_006715470.1:p.Arg8831Gly | |
| XM_006715408.1:c.26479C>G (SYNE1) | XP_006715471.1:p.Arg8827Gly | |
| XM_006715409.1:c.26470C>G (SYNE1) | XP_006715472.1:p.Arg8824Gly | |
| XM_006715410.1:c.26449C>G (SYNE1) | XP_006715473.1:p.Arg8817Gly | |
| XM_006715411.1:c.26440C>G (SYNE1) | XP_006715474.1:p.Arg8814Gly | |
| XM_006715412.1:c.26434C>G (SYNE1) | XP_006715475.1:p.Arg8812Gly | |
| XM_006715413.1:c.26422C>G (SYNE1) | XP_006715476.1:p.Arg8808Gly | |
| XM_006715414.1:c.26419C>G (SYNE1) | XP_006715477.1:p.Arg8807Gly | |
| XM_006715415.1:c.26380C>G (SYNE1) | XP_006715478.1:p.Arg8794Gly | |
| XM_006715416.1:c.26365C>G (SYNE1) | XP_006715479.1:p.Arg8789Gly | |
| XM_006715417.1:c.26350C>G (SYNE1) | XP_006715480.1:p.Arg8784Gly | |
| XM_006715420.1:c.26338C>G (SYNE1) | XP_006715483.1:p.Arg8780Gly | |
| XM_006715421.1:c.26335C>G (SYNE1) | XP_006715484.1:p.Arg8779Gly | |
| XM_006715422.1:c.26332C>G (SYNE1) | XP_006715485.1:p.Arg8778Gly | |
| XM_006715423.1:c.*155C>G (SYNE1) | XP_006715486.1:n.*155C>G | |
| XM_006715424.1:c.*155C>G (SYNE1) | XP_006715487.1:n.*155C>G | |
| XM_006715425.1:c.*155C>G (SYNE1) | XP_006715488.1:n.*155C>G | |
| XM_011535641.1:c.26488C>G (SYNE1) | XP_011533943.1:p.Arg8830Gly | |
| XM_011535642.1:c.26476C>G (SYNE1) | XP_011533944.1:p.Arg8826Gly | |
| XM_011535643.1:c.26326C>G (SYNE1) | XP_011533945.1:p.Arg8776Gly | |
| XM_011535644.1:c.24766C>G (SYNE1) | XP_011533946.1:p.Arg8256Gly | |
| XM_011535645.1:c.24259C>G (SYNE1) | XP_011533947.1:p.Arg8087Gly | |
| XM_011535647.1:c.19726C>G (SYNE1) | XP_011533949.1:p.Arg6576Gly | |
| NM_001328100.1:c.851-2780G>C (ESR1) | NP_001315029.1:n.851-2780G>C | |
| NM_001347701.1:c.*155C>G (SYNE1) | NP_001334630.1:n.*155C>G | |
| NM_001347702.1:c.2878C>G (SYNE1) | NP_001334631.1:p.Arg960Gly | |
| XM_006715408.2:c.26479C>G (SYNE1) | XP_006715471.1:p.Arg8827Gly | |
| XM_006715410.2:c.26449C>G (SYNE1) | XP_006715473.1:p.Arg8817Gly | |
| XM_006715412.2:c.26434C>G (SYNE1) | XP_006715475.1:p.Arg8812Gly | |
| XM_006715413.2:c.26422C>G (SYNE1) | XP_006715476.1:p.Arg8808Gly | |
| XM_006715415.2:c.26380C>G (SYNE1) | XP_006715478.1:p.Arg8794Gly | |
| XM_006715416.2:c.26365C>G (SYNE1) | XP_006715479.1:p.Arg8789Gly | |
| XM_006715417.2:c.26350C>G (SYNE1) | XP_006715480.1:p.Arg8784Gly | |
| XM_006715420.2:c.26338C>G (SYNE1) | XP_006715483.1:p.Arg8780Gly | |
| XM_006715421.2:c.26335C>G (SYNE1) | XP_006715484.1:p.Arg8779Gly | |
| XM_006715423.2:c.*155C>G (SYNE1) | XP_006715486.1:n.*155C>G | |
| XM_006715424.2:c.*155C>G (SYNE1) | XP_006715487.1:n.*155C>G | |
| XM_006715425.2:c.*155C>G (SYNE1) | XP_006715488.1:n.*155C>G | |
| XM_011535641.2:c.26488C>G (SYNE1) | XP_011533943.1:p.Arg8830Gly | |
| XM_011535642.2:c.26476C>G (SYNE1) | XP_011533944.1:p.Arg8826Gly | |
| XM_011535645.2:c.24259C>G (SYNE1) | XP_011533947.1:p.Arg8087Gly | |
| XM_017010608.1:c.26491C>G (SYNE1) | XP_016866097.1:p.Arg8831Gly | |
| XM_017010609.1:c.26491C>G (SYNE1) | XP_016866098.1:p.Arg8831Gly | |
| XM_017010610.1:c.26470C>G (SYNE1) | XP_016866099.1:p.Arg8824Gly | |
| XM_017010611.2:c.26464C>G (SYNE1) | XP_016866100.1:p.Arg8822Gly | |
| XM_017010612.1:c.26413C>G (SYNE1) | XP_016866101.1:p.Arg8805Gly | |
| XM_017010613.1:c.26377C>G (SYNE1) | XP_016866102.1:p.Arg8793Gly | |
| XM_017010614.1:c.26335C>G (SYNE1) | XP_016866103.1:p.Arg8779Gly | |
| XM_017010615.1:c.26224C>G (SYNE1) | XP_016866104.1:p.Arg8742Gly | |
| XM_017010616.1:c.*155C>G (SYNE1) | XP_016866105.1:n.*155C>G | |
| XM_017010617.1:c.*155C>G (SYNE1) | XP_016866106.1:n.*155C>G | |
| XM_017010618.1:c.*155C>G (SYNE1) | XP_016866107.1:n.*155C>G | |
| XM_017010619.1:c.24766C>G (SYNE1) | XP_016866108.1:p.Arg8256Gly | |
| NM_182961.4:c.26344C>G (SYNE1) MANE Select | NP_892006.3:p.Arg8782Gly | |
| NM_001328100.2:c.851-2780G>C (ESR1) | NP_001315029.1:n.851-2780G>C | |
| NM_001347701.2:c.*155C>G (SYNE1) | NP_001334630.1:n.*155C>G | |
| NM_001347702.2:c.2878C>G (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Arg960Gly | |
| NM_033071.5:c.26200C>G (SYNE1) | NP_149062.2:p.Arg8734Gly |