Linked Data
dbSNP Id:
rs760509759
ExAC:
6:152443576 G / A
gnomAD v2:
6-152443576-G-A
gnomAD v4:
6-152122441-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122441G>A , CM000668.2:g.152122441G>A | GRCh38 |
| NC_000006.11:g.152443576G>A , CM000668.1:g.152443576G>A | GRCh37 |
| NC_000006.10:g.152485269G>A | NCBI36 |
| NG_012855.1:g.519959C>T | |
| NG_008493.2:g.470751G>A | |
| NG_012855.2:g.519959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2923C>T (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Leu975Phe | |
| ENST00000367255.10:c.26389C>T (SYNE1) MANE Select | ENSP00000356224.5:p.Leu8797Phe | |
| ENST00000423061.6:c.26245C>T (SYNE1) | ENSP00000396024.1:p.Leu8749Phe | |
| ENST00000672154.1:c.1732C>T (SYNE1) | ||
| ENST00000672169.1:c.2107C>T (SYNE1) | ||
| ENST00000673173.1:c.1974C>T (SYNE1) | ||
| ENST00000673451.1:c.2239C>T (SYNE1) | ENSP00000500189.1:n.2239C>T | |
| ENST00000341594.9:c.25174C>T (SYNE1) | ENSP00000341887.6:p.Leu8392Phe | |
| ENST00000347037.9:n.3137C>T (SYNE1) | ||
| ENST00000354674.4:c.2923C>T (SYNE1) | ENSP00000346701.4:p.Leu975Phe | |
| ENST00000367251.7:c.5165C>T (SYNE1) | ENSP00000356220.3:n.5165C>T | |
| ENST00000367255.9:c.26389C>T (SYNE1) | ENSP00000356224.5:p.Leu8797Phe | |
| ENST00000367256.9:n.10081C>T (SYNE1) | ||
| ENST00000367257.8:c.4268C>T (SYNE1) | ENSP00000356226.4:n.4268C>T | |
| ENST00000409694.6:n.9973C>T (SYNE1) | ||
| ENST00000423061.5:c.26245C>T (SYNE1) | ENSP00000396024.1:p.Leu8749Phe | |
| ENST00000427531.6:c.851-2825G>A (ESR1) | ENSP00000394721.2:n.851-2825G>A | |
| ENST00000460912.6:n.3003C>T (SYNE1) | ||
| ENST00000478916.5:n.7026C>T (SYNE1) | ||
| ENST00000539504.5:c.2854C>T (SYNE1) | ENSP00000441052.1:p.Leu952Phe | |
| NM_033071.3:c.26245C>T (SYNE1) | NP_149062.1:p.Leu8749Phe | |
| NM_182961.3:c.26389C>T (SYNE1) | NP_892006.3:p.Leu8797Phe | |
| XM_006715407.1:c.26536C>T (SYNE1) | XP_006715470.1:p.Leu8846Phe | |
| XM_006715408.1:c.26524C>T (SYNE1) | XP_006715471.1:p.Leu8842Phe | |
| XM_006715409.1:c.26515C>T (SYNE1) | XP_006715472.1:p.Leu8839Phe | |
| XM_006715410.1:c.26494C>T (SYNE1) | XP_006715473.1:p.Leu8832Phe | |
| XM_006715411.1:c.26485C>T (SYNE1) | XP_006715474.1:p.Leu8829Phe | |
| XM_006715412.1:c.26479C>T (SYNE1) | XP_006715475.1:p.Leu8827Phe | |
| XM_006715413.1:c.26467C>T (SYNE1) | XP_006715476.1:p.Leu8823Phe | |
| XM_006715414.1:c.26464C>T (SYNE1) | XP_006715477.1:p.Leu8822Phe | |
| XM_006715415.1:c.26425C>T (SYNE1) | XP_006715478.1:p.Leu8809Phe | |
| XM_006715416.1:c.26410C>T (SYNE1) | XP_006715479.1:p.Leu8804Phe | |
| XM_006715417.1:c.26395C>T (SYNE1) | XP_006715480.1:p.Leu8799Phe | |
| XM_006715420.1:c.26383C>T (SYNE1) | XP_006715483.1:p.Leu8795Phe | |
| XM_006715421.1:c.26380C>T (SYNE1) | XP_006715484.1:p.Leu8794Phe | |
| XM_006715422.1:c.26377C>T (SYNE1) | XP_006715485.1:p.Leu8793Phe | |
| XM_006715423.1:c.*200C>T (SYNE1) | XP_006715486.1:n.*200C>T | |
| XM_006715424.1:c.*200C>T (SYNE1) | XP_006715487.1:n.*200C>T | |
| XM_006715425.1:c.*200C>T (SYNE1) | XP_006715488.1:n.*200C>T | |
| XM_011535641.1:c.26533C>T (SYNE1) | XP_011533943.1:p.Leu8845Phe | |
| XM_011535642.1:c.26521C>T (SYNE1) | XP_011533944.1:p.Leu8841Phe | |
| XM_011535643.1:c.26371C>T (SYNE1) | XP_011533945.1:p.Leu8791Phe | |
| XM_011535644.1:c.24811C>T (SYNE1) | XP_011533946.1:p.Leu8271Phe | |
| XM_011535645.1:c.24304C>T (SYNE1) | XP_011533947.1:p.Leu8102Phe | |
| XM_011535647.1:c.19771C>T (SYNE1) | XP_011533949.1:p.Leu6591Phe | |
| NM_001328100.1:c.851-2825G>A (ESR1) | NP_001315029.1:n.851-2825G>A | |
| NM_001347701.1:c.*200C>T (SYNE1) | NP_001334630.1:n.*200C>T | |
| NM_001347702.1:c.2923C>T (SYNE1) | NP_001334631.1:p.Leu975Phe | |
| XM_006715408.2:c.26524C>T (SYNE1) | XP_006715471.1:p.Leu8842Phe | |
| XM_006715410.2:c.26494C>T (SYNE1) | XP_006715473.1:p.Leu8832Phe | |
| XM_006715412.2:c.26479C>T (SYNE1) | XP_006715475.1:p.Leu8827Phe | |
| XM_006715413.2:c.26467C>T (SYNE1) | XP_006715476.1:p.Leu8823Phe | |
| XM_006715415.2:c.26425C>T (SYNE1) | XP_006715478.1:p.Leu8809Phe | |
| XM_006715416.2:c.26410C>T (SYNE1) | XP_006715479.1:p.Leu8804Phe | |
| XM_006715417.2:c.26395C>T (SYNE1) | XP_006715480.1:p.Leu8799Phe | |
| XM_006715420.2:c.26383C>T (SYNE1) | XP_006715483.1:p.Leu8795Phe | |
| XM_006715421.2:c.26380C>T (SYNE1) | XP_006715484.1:p.Leu8794Phe | |
| XM_006715423.2:c.*200C>T (SYNE1) | XP_006715486.1:n.*200C>T | |
| XM_006715424.2:c.*200C>T (SYNE1) | XP_006715487.1:n.*200C>T | |
| XM_006715425.2:c.*200C>T (SYNE1) | XP_006715488.1:n.*200C>T | |
| XM_011535641.2:c.26533C>T (SYNE1) | XP_011533943.1:p.Leu8845Phe | |
| XM_011535642.2:c.26521C>T (SYNE1) | XP_011533944.1:p.Leu8841Phe | |
| XM_011535645.2:c.24304C>T (SYNE1) | XP_011533947.1:p.Leu8102Phe | |
| XM_017010608.1:c.26536C>T (SYNE1) | XP_016866097.1:p.Leu8846Phe | |
| XM_017010609.1:c.26536C>T (SYNE1) | XP_016866098.1:p.Leu8846Phe | |
| XM_017010610.1:c.26515C>T (SYNE1) | XP_016866099.1:p.Leu8839Phe | |
| XM_017010611.2:c.26509C>T (SYNE1) | XP_016866100.1:p.Leu8837Phe | |
| XM_017010612.1:c.26458C>T (SYNE1) | XP_016866101.1:p.Leu8820Phe | |
| XM_017010613.1:c.26422C>T (SYNE1) | XP_016866102.1:p.Leu8808Phe | |
| XM_017010614.1:c.26380C>T (SYNE1) | XP_016866103.1:p.Leu8794Phe | |
| XM_017010615.1:c.26269C>T (SYNE1) | XP_016866104.1:p.Leu8757Phe | |
| XM_017010616.1:c.*200C>T (SYNE1) | XP_016866105.1:n.*200C>T | |
| XM_017010617.1:c.*200C>T (SYNE1) | XP_016866106.1:n.*200C>T | |
| XM_017010618.1:c.*200C>T (SYNE1) | XP_016866107.1:n.*200C>T | |
| XM_017010619.1:c.24811C>T (SYNE1) | XP_016866108.1:p.Leu8271Phe | |
| NM_182961.4:c.26389C>T (SYNE1) MANE Select | NP_892006.3:p.Leu8797Phe | |
| NM_001328100.2:c.851-2825G>A (ESR1) | NP_001315029.1:n.851-2825G>A | |
| NM_001347701.2:c.*200C>T (SYNE1) | NP_001334630.1:n.*200C>T | |
| NM_001347702.2:c.2923C>T (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Leu975Phe | |
| NM_033071.5:c.26245C>T (SYNE1) | NP_149062.2:p.Leu8749Phe |