Canonical Allele Identifier: CA366089245

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122661G>T , CM000668.2:g.152122661G>T GRCh38
NC_000006.11:g.152443796G>T , CM000668.1:g.152443796G>T GRCh37
NC_000006.10:g.152485489G>T NCBI36
NG_012855.1:g.519739C>A
NG_008493.2:g.470971G>T
NG_012855.2:g.519739C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2703C>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Gly901=
ENST00000367255.10:c.26169C>A (SYNE1) MANE Select ENSP00000356224.5:p.Gly8723=
ENST00000423061.6:c.26025C>A (SYNE1) ENSP00000396024.1:p.Gly8675=
ENST00000672154.1:c.1512C>A (SYNE1)
ENST00000672169.1:c.1887C>A (SYNE1)
ENST00000673173.1:c.1754C>A (SYNE1)
ENST00000673451.1:c.2019C>A (SYNE1) ENSP00000500189.1:n.2019C>A
ENST00000341594.9:c.24954C>A (SYNE1) ENSP00000341887.6:p.Gly8318=
ENST00000347037.9:n.2917C>A (SYNE1)
ENST00000354674.4:c.2703C>A (SYNE1) ENSP00000346701.4:p.Gly901=
ENST00000367251.7:c.4945C>A (SYNE1) ENSP00000356220.3:p.Leu1649Ile
ENST00000367255.9:c.26169C>A (SYNE1) ENSP00000356224.5:p.Gly8723=
ENST00000367256.9:n.9861C>A (SYNE1)
ENST00000367257.8:c.4048C>A (SYNE1) ENSP00000356226.4:p.Leu1350Ile
ENST00000409694.6:n.9753C>A (SYNE1)
ENST00000423061.5:c.26025C>A (SYNE1) ENSP00000396024.1:p.Gly8675=
ENST00000427531.6:c.851-2605G>T (ESR1) ENSP00000394721.2:n.851-2605G>T
ENST00000460912.6:n.2783C>A (SYNE1)
ENST00000478916.5:n.6806C>A (SYNE1)
ENST00000536990.5:n.2947C>A (SYNE1)
ENST00000539504.5:c.2634C>A (SYNE1) ENSP00000441052.1:p.Gly878=
NM_033071.3:c.26025C>A (SYNE1) NP_149062.1:p.Gly8675=
NM_182961.3:c.26169C>A (SYNE1) NP_892006.3:p.Gly8723=
XM_006715407.1:c.26316C>A (SYNE1) XP_006715470.1:p.Gly8772=
XM_006715408.1:c.26304C>A (SYNE1) XP_006715471.1:p.Gly8768=
XM_006715409.1:c.26295C>A (SYNE1) XP_006715472.1:p.Gly8765=
XM_006715410.1:c.26274C>A (SYNE1) XP_006715473.1:p.Gly8758=
XM_006715411.1:c.26265C>A (SYNE1) XP_006715474.1:p.Gly8755=
XM_006715412.1:c.26259C>A (SYNE1) XP_006715475.1:p.Gly8753=
XM_006715413.1:c.26247C>A (SYNE1) XP_006715476.1:p.Gly8749=
XM_006715414.1:c.26244C>A (SYNE1) XP_006715477.1:p.Gly8748=
XM_006715415.1:c.26205C>A (SYNE1) XP_006715478.1:p.Gly8735=
XM_006715416.1:c.26190C>A (SYNE1) XP_006715479.1:p.Gly8730=
XM_006715417.1:c.26175C>A (SYNE1) XP_006715480.1:p.Gly8725=
XM_006715420.1:c.26163C>A (SYNE1) XP_006715483.1:p.Gly8721=
XM_006715421.1:c.26160C>A (SYNE1) XP_006715484.1:p.Gly8720=
XM_006715422.1:c.26157C>A (SYNE1) XP_006715485.1:p.Gly8719=
XM_006715423.1:c.26257C>A (SYNE1) XP_006715486.1:p.Leu8753Ile
XM_006715424.1:c.26215C>A (SYNE1) XP_006715487.1:p.Leu8739Ile
XM_006715425.1:c.26146C>A (SYNE1) XP_006715488.1:p.Leu8716Ile
XM_011535641.1:c.26313C>A (SYNE1) XP_011533943.1:p.Gly8771=
XM_011535642.1:c.26301C>A (SYNE1) XP_011533944.1:p.Gly8767=
XM_011535643.1:c.26151C>A (SYNE1) XP_011533945.1:p.Gly8717=
XM_011535644.1:c.24591C>A (SYNE1) XP_011533946.1:p.Gly8197=
XM_011535645.1:c.24084C>A (SYNE1) XP_011533947.1:p.Gly8028=
XM_011535647.1:c.19551C>A (SYNE1) XP_011533949.1:p.Gly6517=
NM_001328100.1:c.851-2605G>T (ESR1) NP_001315029.1:n.851-2605G>T
NM_001347701.1:c.2716C>A (SYNE1) NP_001334630.1:p.Leu906Ile
NM_001347702.1:c.2703C>A (SYNE1) NP_001334631.1:p.Gly901=
XM_006715408.2:c.26304C>A (SYNE1) XP_006715471.1:p.Gly8768=
XM_006715410.2:c.26274C>A (SYNE1) XP_006715473.1:p.Gly8758=
XM_006715412.2:c.26259C>A (SYNE1) XP_006715475.1:p.Gly8753=
XM_006715413.2:c.26247C>A (SYNE1) XP_006715476.1:p.Gly8749=
XM_006715415.2:c.26205C>A (SYNE1) XP_006715478.1:p.Gly8735=
XM_006715416.2:c.26190C>A (SYNE1) XP_006715479.1:p.Gly8730=
XM_006715417.2:c.26175C>A (SYNE1) XP_006715480.1:p.Gly8725=
XM_006715420.2:c.26163C>A (SYNE1) XP_006715483.1:p.Gly8721=
XM_006715421.2:c.26160C>A (SYNE1) XP_006715484.1:p.Gly8720=
XM_006715423.2:c.26257C>A (SYNE1) XP_006715486.1:p.Leu8753Ile
XM_006715424.2:c.26215C>A (SYNE1) XP_006715487.1:p.Leu8739Ile
XM_006715425.2:c.26146C>A (SYNE1) XP_006715488.1:p.Leu8716Ile
XM_011535641.2:c.26313C>A (SYNE1) XP_011533943.1:p.Gly8771=
XM_011535642.2:c.26301C>A (SYNE1) XP_011533944.1:p.Gly8767=
XM_011535645.2:c.24084C>A (SYNE1) XP_011533947.1:p.Gly8028=
XM_017010608.1:c.26316C>A (SYNE1) XP_016866097.1:p.Gly8772=
XM_017010609.1:c.26316C>A (SYNE1) XP_016866098.1:p.Gly8772=
XM_017010610.1:c.26295C>A (SYNE1) XP_016866099.1:p.Gly8765=
XM_017010611.2:c.26289C>A (SYNE1) XP_016866100.1:p.Gly8763=
XM_017010612.1:c.26238C>A (SYNE1) XP_016866101.1:p.Gly8746=
XM_017010613.1:c.26202C>A (SYNE1) XP_016866102.1:p.Gly8734=
XM_017010614.1:c.26160C>A (SYNE1) XP_016866103.1:p.Gly8720=
XM_017010615.1:c.26049C>A (SYNE1) XP_016866104.1:p.Gly8683=
XM_017010616.1:c.26188C>A (SYNE1) XP_016866105.1:p.Leu8730Ile
XM_017010617.1:c.26143C>A (SYNE1) XP_016866106.1:p.Leu8715Ile
XM_017010618.1:c.26131C>A (SYNE1) XP_016866107.1:p.Leu8711Ile
XM_017010619.1:c.24591C>A (SYNE1) XP_016866108.1:p.Gly8197=
NM_182961.4:c.26169C>A (SYNE1) MANE Select NP_892006.3:p.Gly8723=
NM_001328100.2:c.851-2605G>T (ESR1) NP_001315029.1:n.851-2605G>T
NM_001347701.2:c.2716C>A (SYNE1) NP_001334630.1:p.Leu906Ile
NM_001347702.2:c.2703C>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Gly901=
NM_033071.5:c.26025C>A (SYNE1) NP_149062.2:p.Gly8675=