Linked Data
ClinVar Variation Id:
1425327
dbSNP Id:
rs1276774540
gnomAD v2:
6-152443752-C-T
gnomAD v4:
6-152122617-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122617C>T , CM000668.2:g.152122617C>T | GRCh38 |
| NC_000006.11:g.152443752C>T , CM000668.1:g.152443752C>T | GRCh37 |
| NC_000006.10:g.152485445C>T | NCBI36 |
| NG_012855.1:g.519783G>A | |
| NG_008493.2:g.470927C>T | |
| NG_012855.2:g.519783G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.2747G>A (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Arg916His | |
| ENST00000367255.10:c.26213G>A (SYNE1) MANE Select | ENSP00000356224.5:p.Arg8738His | |
| ENST00000423061.6:c.26069G>A (SYNE1) | ENSP00000396024.1:p.Arg8690His | |
| ENST00000672154.1:c.1556G>A (SYNE1) | ||
| ENST00000672169.1:c.1931G>A (SYNE1) | ||
| ENST00000673173.1:c.1798G>A (SYNE1) | ||
| ENST00000673451.1:c.2063G>A (SYNE1) | ENSP00000500189.1:n.2063G>A | |
| ENST00000341594.9:c.24998G>A (SYNE1) | ENSP00000341887.6:p.Arg8333His | |
| ENST00000347037.9:n.2961G>A (SYNE1) | ||
| ENST00000354674.4:c.2747G>A (SYNE1) | ENSP00000346701.4:p.Arg916His | |
| ENST00000367251.7:c.4989G>A (SYNE1) | ENSP00000356220.3:n.4989G>A | |
| ENST00000367255.9:c.26213G>A (SYNE1) | ENSP00000356224.5:p.Arg8738His | |
| ENST00000367256.9:n.9905G>A (SYNE1) | ||
| ENST00000367257.8:c.4092G>A (SYNE1) | ENSP00000356226.4:n.4092G>A | |
| ENST00000409694.6:n.9797G>A (SYNE1) | ||
| ENST00000423061.5:c.26069G>A (SYNE1) | ENSP00000396024.1:p.Arg8690His | |
| ENST00000427531.6:c.851-2649C>T (ESR1) | ENSP00000394721.2:n.851-2649C>T | |
| ENST00000460912.6:n.2827G>A (SYNE1) | ||
| ENST00000478916.5:n.6850G>A (SYNE1) | ||
| ENST00000536990.5:n.2991G>A (SYNE1) | ||
| ENST00000539504.5:c.2678G>A (SYNE1) | ENSP00000441052.1:p.Arg893His | |
| NM_033071.3:c.26069G>A (SYNE1) | NP_149062.1:p.Arg8690His | |
| NM_182961.3:c.26213G>A (SYNE1) | NP_892006.3:p.Arg8738His | |
| XM_006715407.1:c.26360G>A (SYNE1) | XP_006715470.1:p.Arg8787His | |
| XM_006715408.1:c.26348G>A (SYNE1) | XP_006715471.1:p.Arg8783His | |
| XM_006715409.1:c.26339G>A (SYNE1) | XP_006715472.1:p.Arg8780His | |
| XM_006715410.1:c.26318G>A (SYNE1) | XP_006715473.1:p.Arg8773His | |
| XM_006715411.1:c.26309G>A (SYNE1) | XP_006715474.1:p.Arg8770His | |
| XM_006715412.1:c.26303G>A (SYNE1) | XP_006715475.1:p.Arg8768His | |
| XM_006715413.1:c.26291G>A (SYNE1) | XP_006715476.1:p.Arg8764His | |
| XM_006715414.1:c.26288G>A (SYNE1) | XP_006715477.1:p.Arg8763His | |
| XM_006715415.1:c.26249G>A (SYNE1) | XP_006715478.1:p.Arg8750His | |
| XM_006715416.1:c.26234G>A (SYNE1) | XP_006715479.1:p.Arg8745His | |
| XM_006715417.1:c.26219G>A (SYNE1) | XP_006715480.1:p.Arg8740His | |
| XM_006715420.1:c.26207G>A (SYNE1) | XP_006715483.1:p.Arg8736His | |
| XM_006715421.1:c.26204G>A (SYNE1) | XP_006715484.1:p.Arg8735His | |
| XM_006715422.1:c.26201G>A (SYNE1) | XP_006715485.1:p.Arg8734His | |
| XM_006715423.1:c.*24G>A (SYNE1) | XP_006715486.1:n.*24G>A | |
| XM_006715424.1:c.*24G>A (SYNE1) | XP_006715487.1:n.*24G>A | |
| XM_006715425.1:c.*24G>A (SYNE1) | XP_006715488.1:n.*24G>A | |
| XM_011535641.1:c.26357G>A (SYNE1) | XP_011533943.1:p.Arg8786His | |
| XM_011535642.1:c.26345G>A (SYNE1) | XP_011533944.1:p.Arg8782His | |
| XM_011535643.1:c.26195G>A (SYNE1) | XP_011533945.1:p.Arg8732His | |
| XM_011535644.1:c.24635G>A (SYNE1) | XP_011533946.1:p.Arg8212His | |
| XM_011535645.1:c.24128G>A (SYNE1) | XP_011533947.1:p.Arg8043His | |
| XM_011535647.1:c.19595G>A (SYNE1) | XP_011533949.1:p.Arg6532His | |
| NM_001328100.1:c.851-2649C>T (ESR1) | NP_001315029.1:n.851-2649C>T | |
| NM_001347701.1:c.*24G>A (SYNE1) | NP_001334630.1:n.*24G>A | |
| NM_001347702.1:c.2747G>A (SYNE1) | NP_001334631.1:p.Arg916His | |
| XM_006715408.2:c.26348G>A (SYNE1) | XP_006715471.1:p.Arg8783His | |
| XM_006715410.2:c.26318G>A (SYNE1) | XP_006715473.1:p.Arg8773His | |
| XM_006715412.2:c.26303G>A (SYNE1) | XP_006715475.1:p.Arg8768His | |
| XM_006715413.2:c.26291G>A (SYNE1) | XP_006715476.1:p.Arg8764His | |
| XM_006715415.2:c.26249G>A (SYNE1) | XP_006715478.1:p.Arg8750His | |
| XM_006715416.2:c.26234G>A (SYNE1) | XP_006715479.1:p.Arg8745His | |
| XM_006715417.2:c.26219G>A (SYNE1) | XP_006715480.1:p.Arg8740His | |
| XM_006715420.2:c.26207G>A (SYNE1) | XP_006715483.1:p.Arg8736His | |
| XM_006715421.2:c.26204G>A (SYNE1) | XP_006715484.1:p.Arg8735His | |
| XM_006715423.2:c.*24G>A (SYNE1) | XP_006715486.1:n.*24G>A | |
| XM_006715424.2:c.*24G>A (SYNE1) | XP_006715487.1:n.*24G>A | |
| XM_006715425.2:c.*24G>A (SYNE1) | XP_006715488.1:n.*24G>A | |
| XM_011535641.2:c.26357G>A (SYNE1) | XP_011533943.1:p.Arg8786His | |
| XM_011535642.2:c.26345G>A (SYNE1) | XP_011533944.1:p.Arg8782His | |
| XM_011535645.2:c.24128G>A (SYNE1) | XP_011533947.1:p.Arg8043His | |
| XM_017010608.1:c.26360G>A (SYNE1) | XP_016866097.1:p.Arg8787His | |
| XM_017010609.1:c.26360G>A (SYNE1) | XP_016866098.1:p.Arg8787His | |
| XM_017010610.1:c.26339G>A (SYNE1) | XP_016866099.1:p.Arg8780His | |
| XM_017010611.2:c.26333G>A (SYNE1) | XP_016866100.1:p.Arg8778His | |
| XM_017010612.1:c.26282G>A (SYNE1) | XP_016866101.1:p.Arg8761His | |
| XM_017010613.1:c.26246G>A (SYNE1) | XP_016866102.1:p.Arg8749His | |
| XM_017010614.1:c.26204G>A (SYNE1) | XP_016866103.1:p.Arg8735His | |
| XM_017010615.1:c.26093G>A (SYNE1) | XP_016866104.1:p.Arg8698His | |
| XM_017010616.1:c.*24G>A (SYNE1) | XP_016866105.1:n.*24G>A | |
| XM_017010617.1:c.*24G>A (SYNE1) | XP_016866106.1:n.*24G>A | |
| XM_017010618.1:c.*24G>A (SYNE1) | XP_016866107.1:n.*24G>A | |
| XM_017010619.1:c.24635G>A (SYNE1) | XP_016866108.1:p.Arg8212His | |
| NM_182961.4:c.26213G>A (SYNE1) MANE Select | NP_892006.3:p.Arg8738His | |
| NM_001328100.2:c.851-2649C>T (ESR1) | NP_001315029.1:n.851-2649C>T | |
| NM_001347701.2:c.*24G>A (SYNE1) | NP_001334630.1:n.*24G>A | |
| NM_001347702.2:c.2747G>A (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Arg916His | |
| NM_033071.5:c.26069G>A (SYNE1) | NP_149062.2:p.Arg8690His |