Linked Data
ClinVar Variation Id:
1150698
ClinVar RCV Id:
RCV001491388
dbSNP Id:
rs770690488
ExAC:
6:152443757 G / A
gnomAD v2:
6-152443757-G-A
gnomAD v3:
6-152122622-G-A
gnomAD v4:
6-152122622-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122622G>A , CM000668.2:g.152122622G>A | GRCh38 |
| NC_000006.11:g.152443757G>A , CM000668.1:g.152443757G>A | GRCh37 |
| NC_000006.10:g.152485450G>A | NCBI36 |
| NG_012855.1:g.519778C>T | |
| NG_008493.2:g.470932G>A | |
| NG_012855.2:g.519778C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.2742C>T (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Ser914= | |
| ENST00000367255.10:c.26208C>T (SYNE1) MANE Select | ENSP00000356224.5:p.Ser8736= | |
| ENST00000423061.6:c.26064C>T (SYNE1) | ENSP00000396024.1:p.Ser8688= | |
| ENST00000672154.1:c.1551C>T (SYNE1) | ||
| ENST00000672169.1:c.1926C>T (SYNE1) | ||
| ENST00000673173.1:c.1793C>T (SYNE1) | ||
| ENST00000673451.1:c.2058C>T (SYNE1) | ENSP00000500189.1:n.2058C>T | |
| ENST00000341594.9:c.24993C>T (SYNE1) | ENSP00000341887.6:p.Ser8331= | |
| ENST00000347037.9:n.2956C>T (SYNE1) | ||
| ENST00000354674.4:c.2742C>T (SYNE1) | ENSP00000346701.4:p.Ser914= | |
| ENST00000367251.7:c.4984C>T (SYNE1) | ENSP00000356220.3:n.4984C>T | |
| ENST00000367255.9:c.26208C>T (SYNE1) | ENSP00000356224.5:p.Ser8736= | |
| ENST00000367256.9:n.9900C>T (SYNE1) | ||
| ENST00000367257.8:c.4087C>T (SYNE1) | ENSP00000356226.4:n.4087C>T | |
| ENST00000409694.6:n.9792C>T (SYNE1) | ||
| ENST00000423061.5:c.26064C>T (SYNE1) | ENSP00000396024.1:p.Ser8688= | |
| ENST00000427531.6:c.851-2644G>A (ESR1) | ENSP00000394721.2:n.851-2644G>A | |
| ENST00000460912.6:n.2822C>T (SYNE1) | ||
| ENST00000478916.5:n.6845C>T (SYNE1) | ||
| ENST00000536990.5:n.2986C>T (SYNE1) | ||
| ENST00000539504.5:c.2673C>T (SYNE1) | ENSP00000441052.1:p.Ser891= | |
| NM_033071.3:c.26064C>T (SYNE1) | NP_149062.1:p.Ser8688= | |
| NM_182961.3:c.26208C>T (SYNE1) | NP_892006.3:p.Ser8736= | |
| XM_006715407.1:c.26355C>T (SYNE1) | XP_006715470.1:p.Ser8785= | |
| XM_006715408.1:c.26343C>T (SYNE1) | XP_006715471.1:p.Ser8781= | |
| XM_006715409.1:c.26334C>T (SYNE1) | XP_006715472.1:p.Ser8778= | |
| XM_006715410.1:c.26313C>T (SYNE1) | XP_006715473.1:p.Ser8771= | |
| XM_006715411.1:c.26304C>T (SYNE1) | XP_006715474.1:p.Ser8768= | |
| XM_006715412.1:c.26298C>T (SYNE1) | XP_006715475.1:p.Ser8766= | |
| XM_006715413.1:c.26286C>T (SYNE1) | XP_006715476.1:p.Ser8762= | |
| XM_006715414.1:c.26283C>T (SYNE1) | XP_006715477.1:p.Ser8761= | |
| XM_006715415.1:c.26244C>T (SYNE1) | XP_006715478.1:p.Ser8748= | |
| XM_006715416.1:c.26229C>T (SYNE1) | XP_006715479.1:p.Ser8743= | |
| XM_006715417.1:c.26214C>T (SYNE1) | XP_006715480.1:p.Ser8738= | |
| XM_006715420.1:c.26202C>T (SYNE1) | XP_006715483.1:p.Ser8734= | |
| XM_006715421.1:c.26199C>T (SYNE1) | XP_006715484.1:p.Ser8733= | |
| XM_006715422.1:c.26196C>T (SYNE1) | XP_006715485.1:p.Ser8732= | |
| XM_006715423.1:c.*19C>T (SYNE1) | XP_006715486.1:n.*19C>T | |
| XM_006715424.1:c.*19C>T (SYNE1) | XP_006715487.1:n.*19C>T | |
| XM_006715425.1:c.*19C>T (SYNE1) | XP_006715488.1:n.*19C>T | |
| XM_011535641.1:c.26352C>T (SYNE1) | XP_011533943.1:p.Ser8784= | |
| XM_011535642.1:c.26340C>T (SYNE1) | XP_011533944.1:p.Ser8780= | |
| XM_011535643.1:c.26190C>T (SYNE1) | XP_011533945.1:p.Ser8730= | |
| XM_011535644.1:c.24630C>T (SYNE1) | XP_011533946.1:p.Ser8210= | |
| XM_011535645.1:c.24123C>T (SYNE1) | XP_011533947.1:p.Ser8041= | |
| XM_011535647.1:c.19590C>T (SYNE1) | XP_011533949.1:p.Ser6530= | |
| NM_001328100.1:c.851-2644G>A (ESR1) | NP_001315029.1:n.851-2644G>A | |
| NM_001347701.1:c.*19C>T (SYNE1) | NP_001334630.1:n.*19C>T | |
| NM_001347702.1:c.2742C>T (SYNE1) | NP_001334631.1:p.Ser914= | |
| XM_006715408.2:c.26343C>T (SYNE1) | XP_006715471.1:p.Ser8781= | |
| XM_006715410.2:c.26313C>T (SYNE1) | XP_006715473.1:p.Ser8771= | |
| XM_006715412.2:c.26298C>T (SYNE1) | XP_006715475.1:p.Ser8766= | |
| XM_006715413.2:c.26286C>T (SYNE1) | XP_006715476.1:p.Ser8762= | |
| XM_006715415.2:c.26244C>T (SYNE1) | XP_006715478.1:p.Ser8748= | |
| XM_006715416.2:c.26229C>T (SYNE1) | XP_006715479.1:p.Ser8743= | |
| XM_006715417.2:c.26214C>T (SYNE1) | XP_006715480.1:p.Ser8738= | |
| XM_006715420.2:c.26202C>T (SYNE1) | XP_006715483.1:p.Ser8734= | |
| XM_006715421.2:c.26199C>T (SYNE1) | XP_006715484.1:p.Ser8733= | |
| XM_006715423.2:c.*19C>T (SYNE1) | XP_006715486.1:n.*19C>T | |
| XM_006715424.2:c.*19C>T (SYNE1) | XP_006715487.1:n.*19C>T | |
| XM_006715425.2:c.*19C>T (SYNE1) | XP_006715488.1:n.*19C>T | |
| XM_011535641.2:c.26352C>T (SYNE1) | XP_011533943.1:p.Ser8784= | |
| XM_011535642.2:c.26340C>T (SYNE1) | XP_011533944.1:p.Ser8780= | |
| XM_011535645.2:c.24123C>T (SYNE1) | XP_011533947.1:p.Ser8041= | |
| XM_017010608.1:c.26355C>T (SYNE1) | XP_016866097.1:p.Ser8785= | |
| XM_017010609.1:c.26355C>T (SYNE1) | XP_016866098.1:p.Ser8785= | |
| XM_017010610.1:c.26334C>T (SYNE1) | XP_016866099.1:p.Ser8778= | |
| XM_017010611.2:c.26328C>T (SYNE1) | XP_016866100.1:p.Ser8776= | |
| XM_017010612.1:c.26277C>T (SYNE1) | XP_016866101.1:p.Ser8759= | |
| XM_017010613.1:c.26241C>T (SYNE1) | XP_016866102.1:p.Ser8747= | |
| XM_017010614.1:c.26199C>T (SYNE1) | XP_016866103.1:p.Ser8733= | |
| XM_017010615.1:c.26088C>T (SYNE1) | XP_016866104.1:p.Ser8696= | |
| XM_017010616.1:c.*19C>T (SYNE1) | XP_016866105.1:n.*19C>T | |
| XM_017010617.1:c.*19C>T (SYNE1) | XP_016866106.1:n.*19C>T | |
| XM_017010618.1:c.*19C>T (SYNE1) | XP_016866107.1:n.*19C>T | |
| XM_017010619.1:c.24630C>T (SYNE1) | XP_016866108.1:p.Ser8210= | |
| NM_182961.4:c.26208C>T (SYNE1) MANE Select | NP_892006.3:p.Ser8736= | |
| NM_001328100.2:c.851-2644G>A (ESR1) | NP_001315029.1:n.851-2644G>A | |
| NM_001347701.2:c.*19C>T (SYNE1) | NP_001334630.1:n.*19C>T | |
| NM_001347702.2:c.2742C>T (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Ser914= | |
| NM_033071.5:c.26064C>T (SYNE1) | NP_149062.2:p.Ser8688= |