Canonical Allele Identifier: CA150189612

Linked Data

dbSNP Id: rs111925860

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122646A>G , CM000668.2:g.152122646A>G GRCh38
NC_000006.11:g.152443781A>G , CM000668.1:g.152443781A>G GRCh37
NC_000006.10:g.152485474A>G NCBI36
NG_012855.1:g.519754T>C
NG_008493.2:g.470956A>G
NG_012855.2:g.519754T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2718T>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Leu906=
ENST00000367255.10:c.26184T>C (SYNE1) MANE Select ENSP00000356224.5:p.Leu8728=
ENST00000423061.6:c.26040T>C (SYNE1) ENSP00000396024.1:p.Leu8680=
ENST00000672154.1:c.1527T>C (SYNE1)
ENST00000672169.1:c.1902T>C (SYNE1)
ENST00000673173.1:c.1769T>C (SYNE1)
ENST00000673451.1:c.2034T>C (SYNE1) ENSP00000500189.1:n.2034T>C
ENST00000341594.9:c.24969T>C (SYNE1) ENSP00000341887.6:p.Leu8323=
ENST00000347037.9:n.2932T>C (SYNE1)
ENST00000354674.4:c.2718T>C (SYNE1) ENSP00000346701.4:p.Leu906=
ENST00000367251.7:c.4960T>C (SYNE1) ENSP00000356220.3:p.Phe1654Leu
ENST00000367255.9:c.26184T>C (SYNE1) ENSP00000356224.5:p.Leu8728=
ENST00000367256.9:n.9876T>C (SYNE1)
ENST00000367257.8:c.4063T>C (SYNE1) ENSP00000356226.4:p.Phe1355Leu
ENST00000409694.6:n.9768T>C (SYNE1)
ENST00000423061.5:c.26040T>C (SYNE1) ENSP00000396024.1:p.Leu8680=
ENST00000427531.6:c.851-2620A>G (ESR1) ENSP00000394721.2:n.851-2620A>G
ENST00000460912.6:n.2798T>C (SYNE1)
ENST00000478916.5:n.6821T>C (SYNE1)
ENST00000536990.5:n.2962T>C (SYNE1)
ENST00000539504.5:c.2649T>C (SYNE1) ENSP00000441052.1:p.Leu883=
NM_033071.3:c.26040T>C (SYNE1) NP_149062.1:p.Leu8680=
NM_182961.3:c.26184T>C (SYNE1) NP_892006.3:p.Leu8728=
XM_006715407.1:c.26331T>C (SYNE1) XP_006715470.1:p.Leu8777=
XM_006715408.1:c.26319T>C (SYNE1) XP_006715471.1:p.Leu8773=
XM_006715409.1:c.26310T>C (SYNE1) XP_006715472.1:p.Leu8770=
XM_006715410.1:c.26289T>C (SYNE1) XP_006715473.1:p.Leu8763=
XM_006715411.1:c.26280T>C (SYNE1) XP_006715474.1:p.Leu8760=
XM_006715412.1:c.26274T>C (SYNE1) XP_006715475.1:p.Leu8758=
XM_006715413.1:c.26262T>C (SYNE1) XP_006715476.1:p.Leu8754=
XM_006715414.1:c.26259T>C (SYNE1) XP_006715477.1:p.Leu8753=
XM_006715415.1:c.26220T>C (SYNE1) XP_006715478.1:p.Leu8740=
XM_006715416.1:c.26205T>C (SYNE1) XP_006715479.1:p.Leu8735=
XM_006715417.1:c.26190T>C (SYNE1) XP_006715480.1:p.Leu8730=
XM_006715420.1:c.26178T>C (SYNE1) XP_006715483.1:p.Leu8726=
XM_006715421.1:c.26175T>C (SYNE1) XP_006715484.1:p.Leu8725=
XM_006715422.1:c.26172T>C (SYNE1) XP_006715485.1:p.Leu8724=
XM_006715423.1:c.26272T>C (SYNE1) XP_006715486.1:p.Phe8758Leu
XM_006715424.1:c.26230T>C (SYNE1) XP_006715487.1:p.Phe8744Leu
XM_006715425.1:c.26161T>C (SYNE1) XP_006715488.1:p.Phe8721Leu
XM_011535641.1:c.26328T>C (SYNE1) XP_011533943.1:p.Leu8776=
XM_011535642.1:c.26316T>C (SYNE1) XP_011533944.1:p.Leu8772=
XM_011535643.1:c.26166T>C (SYNE1) XP_011533945.1:p.Leu8722=
XM_011535644.1:c.24606T>C (SYNE1) XP_011533946.1:p.Leu8202=
XM_011535645.1:c.24099T>C (SYNE1) XP_011533947.1:p.Leu8033=
XM_011535647.1:c.19566T>C (SYNE1) XP_011533949.1:p.Leu6522=
NM_001328100.1:c.851-2620A>G (ESR1) NP_001315029.1:n.851-2620A>G
NM_001347701.1:c.2731T>C (SYNE1) NP_001334630.1:p.Phe911Leu
NM_001347702.1:c.2718T>C (SYNE1) NP_001334631.1:p.Leu906=
XM_006715408.2:c.26319T>C (SYNE1) XP_006715471.1:p.Leu8773=
XM_006715410.2:c.26289T>C (SYNE1) XP_006715473.1:p.Leu8763=
XM_006715412.2:c.26274T>C (SYNE1) XP_006715475.1:p.Leu8758=
XM_006715413.2:c.26262T>C (SYNE1) XP_006715476.1:p.Leu8754=
XM_006715415.2:c.26220T>C (SYNE1) XP_006715478.1:p.Leu8740=
XM_006715416.2:c.26205T>C (SYNE1) XP_006715479.1:p.Leu8735=
XM_006715417.2:c.26190T>C (SYNE1) XP_006715480.1:p.Leu8730=
XM_006715420.2:c.26178T>C (SYNE1) XP_006715483.1:p.Leu8726=
XM_006715421.2:c.26175T>C (SYNE1) XP_006715484.1:p.Leu8725=
XM_006715423.2:c.26272T>C (SYNE1) XP_006715486.1:p.Phe8758Leu
XM_006715424.2:c.26230T>C (SYNE1) XP_006715487.1:p.Phe8744Leu
XM_006715425.2:c.26161T>C (SYNE1) XP_006715488.1:p.Phe8721Leu
XM_011535641.2:c.26328T>C (SYNE1) XP_011533943.1:p.Leu8776=
XM_011535642.2:c.26316T>C (SYNE1) XP_011533944.1:p.Leu8772=
XM_011535645.2:c.24099T>C (SYNE1) XP_011533947.1:p.Leu8033=
XM_017010608.1:c.26331T>C (SYNE1) XP_016866097.1:p.Leu8777=
XM_017010609.1:c.26331T>C (SYNE1) XP_016866098.1:p.Leu8777=
XM_017010610.1:c.26310T>C (SYNE1) XP_016866099.1:p.Leu8770=
XM_017010611.2:c.26304T>C (SYNE1) XP_016866100.1:p.Leu8768=
XM_017010612.1:c.26253T>C (SYNE1) XP_016866101.1:p.Leu8751=
XM_017010613.1:c.26217T>C (SYNE1) XP_016866102.1:p.Leu8739=
XM_017010614.1:c.26175T>C (SYNE1) XP_016866103.1:p.Leu8725=
XM_017010615.1:c.26064T>C (SYNE1) XP_016866104.1:p.Leu8688=
XM_017010616.1:c.26203T>C (SYNE1) XP_016866105.1:p.Phe8735Leu
XM_017010617.1:c.26158T>C (SYNE1) XP_016866106.1:p.Phe8720Leu
XM_017010618.1:c.26146T>C (SYNE1) XP_016866107.1:p.Phe8716Leu
XM_017010619.1:c.24606T>C (SYNE1) XP_016866108.1:p.Leu8202=
NM_182961.4:c.26184T>C (SYNE1) MANE Select NP_892006.3:p.Leu8728=
NM_001328100.2:c.851-2620A>G (ESR1) NP_001315029.1:n.851-2620A>G
NM_001347701.2:c.2731T>C (SYNE1) NP_001334630.1:p.Phe911Leu
NM_001347702.2:c.2718T>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Leu906=
NM_033071.5:c.26040T>C (SYNE1) NP_149062.2:p.Leu8680=