Canonical Allele Identifier: CA366088782

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122529C>G , CM000668.2:g.152122529C>G GRCh38
NC_000006.11:g.152443664C>G , CM000668.1:g.152443664C>G GRCh37
NC_000006.10:g.152485357C>G NCBI36
NG_012855.1:g.519871G>C
NG_008493.2:g.470839C>G
NG_012855.2:g.519871G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2835G>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Met945Ile
ENST00000367255.10:c.26301G>C (SYNE1) MANE Select ENSP00000356224.5:p.Met8767Ile
ENST00000423061.6:c.26157G>C (SYNE1) ENSP00000396024.1:p.Met8719Ile
ENST00000672154.1:c.1644G>C (SYNE1)
ENST00000672169.1:c.2019G>C (SYNE1)
ENST00000673173.1:c.1886G>C (SYNE1)
ENST00000673451.1:c.2151G>C (SYNE1) ENSP00000500189.1:n.2151G>C
ENST00000341594.9:c.25086G>C (SYNE1) ENSP00000341887.6:p.Met8362Ile
ENST00000347037.9:n.3049G>C (SYNE1)
ENST00000354674.4:c.2835G>C (SYNE1) ENSP00000346701.4:p.Met945Ile
ENST00000367251.7:c.5077G>C (SYNE1) ENSP00000356220.3:n.5077G>C
ENST00000367255.9:c.26301G>C (SYNE1) ENSP00000356224.5:p.Met8767Ile
ENST00000367256.9:n.9993G>C (SYNE1)
ENST00000367257.8:c.4180G>C (SYNE1) ENSP00000356226.4:n.4180G>C
ENST00000409694.6:n.9885G>C (SYNE1)
ENST00000423061.5:c.26157G>C (SYNE1) ENSP00000396024.1:p.Met8719Ile
ENST00000427531.6:c.851-2737C>G (ESR1) ENSP00000394721.2:n.851-2737C>G
ENST00000460912.6:n.2915G>C (SYNE1)
ENST00000478916.5:n.6938G>C (SYNE1)
ENST00000539504.5:c.2766G>C (SYNE1) ENSP00000441052.1:p.Met922Ile
NM_033071.3:c.26157G>C (SYNE1) NP_149062.1:p.Met8719Ile
NM_182961.3:c.26301G>C (SYNE1) NP_892006.3:p.Met8767Ile
XM_006715407.1:c.26448G>C (SYNE1) XP_006715470.1:p.Met8816Ile
XM_006715408.1:c.26436G>C (SYNE1) XP_006715471.1:p.Met8812Ile
XM_006715409.1:c.26427G>C (SYNE1) XP_006715472.1:p.Met8809Ile
XM_006715410.1:c.26406G>C (SYNE1) XP_006715473.1:p.Met8802Ile
XM_006715411.1:c.26397G>C (SYNE1) XP_006715474.1:p.Met8799Ile
XM_006715412.1:c.26391G>C (SYNE1) XP_006715475.1:p.Met8797Ile
XM_006715413.1:c.26379G>C (SYNE1) XP_006715476.1:p.Met8793Ile
XM_006715414.1:c.26376G>C (SYNE1) XP_006715477.1:p.Met8792Ile
XM_006715415.1:c.26337G>C (SYNE1) XP_006715478.1:p.Met8779Ile
XM_006715416.1:c.26322G>C (SYNE1) XP_006715479.1:p.Met8774Ile
XM_006715417.1:c.26307G>C (SYNE1) XP_006715480.1:p.Met8769Ile
XM_006715420.1:c.26295G>C (SYNE1) XP_006715483.1:p.Met8765Ile
XM_006715421.1:c.26292G>C (SYNE1) XP_006715484.1:p.Met8764Ile
XM_006715422.1:c.26289G>C (SYNE1) XP_006715485.1:p.Met8763Ile
XM_006715423.1:c.*112G>C (SYNE1) XP_006715486.1:n.*112G>C
XM_006715424.1:c.*112G>C (SYNE1) XP_006715487.1:n.*112G>C
XM_006715425.1:c.*112G>C (SYNE1) XP_006715488.1:n.*112G>C
XM_011535641.1:c.26445G>C (SYNE1) XP_011533943.1:p.Met8815Ile
XM_011535642.1:c.26433G>C (SYNE1) XP_011533944.1:p.Met8811Ile
XM_011535643.1:c.26283G>C (SYNE1) XP_011533945.1:p.Met8761Ile
XM_011535644.1:c.24723G>C (SYNE1) XP_011533946.1:p.Met8241Ile
XM_011535645.1:c.24216G>C (SYNE1) XP_011533947.1:p.Met8072Ile
XM_011535647.1:c.19683G>C (SYNE1) XP_011533949.1:p.Met6561Ile
NM_001328100.1:c.851-2737C>G (ESR1) NP_001315029.1:n.851-2737C>G
NM_001347701.1:c.*112G>C (SYNE1) NP_001334630.1:n.*112G>C
NM_001347702.1:c.2835G>C (SYNE1) NP_001334631.1:p.Met945Ile
XM_006715408.2:c.26436G>C (SYNE1) XP_006715471.1:p.Met8812Ile
XM_006715410.2:c.26406G>C (SYNE1) XP_006715473.1:p.Met8802Ile
XM_006715412.2:c.26391G>C (SYNE1) XP_006715475.1:p.Met8797Ile
XM_006715413.2:c.26379G>C (SYNE1) XP_006715476.1:p.Met8793Ile
XM_006715415.2:c.26337G>C (SYNE1) XP_006715478.1:p.Met8779Ile
XM_006715416.2:c.26322G>C (SYNE1) XP_006715479.1:p.Met8774Ile
XM_006715417.2:c.26307G>C (SYNE1) XP_006715480.1:p.Met8769Ile
XM_006715420.2:c.26295G>C (SYNE1) XP_006715483.1:p.Met8765Ile
XM_006715421.2:c.26292G>C (SYNE1) XP_006715484.1:p.Met8764Ile
XM_006715423.2:c.*112G>C (SYNE1) XP_006715486.1:n.*112G>C
XM_006715424.2:c.*112G>C (SYNE1) XP_006715487.1:n.*112G>C
XM_006715425.2:c.*112G>C (SYNE1) XP_006715488.1:n.*112G>C
XM_011535641.2:c.26445G>C (SYNE1) XP_011533943.1:p.Met8815Ile
XM_011535642.2:c.26433G>C (SYNE1) XP_011533944.1:p.Met8811Ile
XM_011535645.2:c.24216G>C (SYNE1) XP_011533947.1:p.Met8072Ile
XM_017010608.1:c.26448G>C (SYNE1) XP_016866097.1:p.Met8816Ile
XM_017010609.1:c.26448G>C (SYNE1) XP_016866098.1:p.Met8816Ile
XM_017010610.1:c.26427G>C (SYNE1) XP_016866099.1:p.Met8809Ile
XM_017010611.2:c.26421G>C (SYNE1) XP_016866100.1:p.Met8807Ile
XM_017010612.1:c.26370G>C (SYNE1) XP_016866101.1:p.Met8790Ile
XM_017010613.1:c.26334G>C (SYNE1) XP_016866102.1:p.Met8778Ile
XM_017010614.1:c.26292G>C (SYNE1) XP_016866103.1:p.Met8764Ile
XM_017010615.1:c.26181G>C (SYNE1) XP_016866104.1:p.Met8727Ile
XM_017010616.1:c.*112G>C (SYNE1) XP_016866105.1:n.*112G>C
XM_017010617.1:c.*112G>C (SYNE1) XP_016866106.1:n.*112G>C
XM_017010618.1:c.*112G>C (SYNE1) XP_016866107.1:n.*112G>C
XM_017010619.1:c.24723G>C (SYNE1) XP_016866108.1:p.Met8241Ile
NM_182961.4:c.26301G>C (SYNE1) MANE Select NP_892006.3:p.Met8767Ile
NM_001328100.2:c.851-2737C>G (ESR1) NP_001315029.1:n.851-2737C>G
NM_001347701.2:c.*112G>C (SYNE1) NP_001334630.1:n.*112G>C
NM_001347702.2:c.2835G>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Met945Ile
NM_033071.5:c.26157G>C (SYNE1) NP_149062.2:p.Met8719Ile