Canonical Allele Identifier: CA366088414

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122438A>T , CM000668.2:g.152122438A>T GRCh38
NC_000006.11:g.152443573A>T , CM000668.1:g.152443573A>T GRCh37
NC_000006.10:g.152485266A>T NCBI36
NG_012855.1:g.519962T>A
NG_008493.2:g.470748A>T
NG_012855.2:g.519962T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2926T>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Ter976Arg
ENST00000367255.10:c.26392T>A (SYNE1) MANE Select ENSP00000356224.5:p.Ter8798Arg
ENST00000423061.6:c.26248T>A (SYNE1) ENSP00000396024.1:p.Ter8750Arg
ENST00000672154.1:c.1735T>A (SYNE1)
ENST00000672169.1:c.2110T>A (SYNE1)
ENST00000673173.1:c.1977T>A (SYNE1)
ENST00000673451.1:c.2242T>A (SYNE1) ENSP00000500189.1:n.2242T>A
ENST00000341594.9:c.25177T>A (SYNE1) ENSP00000341887.6:p.Ter8393Arg
ENST00000347037.9:n.3140T>A (SYNE1)
ENST00000354674.4:c.2926T>A (SYNE1) ENSP00000346701.4:p.Ter976Arg
ENST00000367251.7:c.5168T>A (SYNE1) ENSP00000356220.3:n.5168T>A
ENST00000367255.9:c.26392T>A (SYNE1) ENSP00000356224.5:p.Ter8798Arg
ENST00000367256.9:n.10084T>A (SYNE1)
ENST00000367257.8:c.4271T>A (SYNE1) ENSP00000356226.4:n.4271T>A
ENST00000409694.6:n.9976T>A (SYNE1)
ENST00000423061.5:c.26248T>A (SYNE1) ENSP00000396024.1:p.Ter8750Arg
ENST00000427531.6:c.851-2828A>T (ESR1) ENSP00000394721.2:n.851-2828A>T
ENST00000460912.6:n.3006T>A (SYNE1)
ENST00000478916.5:n.7029T>A (SYNE1)
ENST00000539504.5:c.2857T>A (SYNE1) ENSP00000441052.1:p.Ter953Arg
NM_033071.3:c.26248T>A (SYNE1) NP_149062.1:p.Ter8750Arg
NM_182961.3:c.26392T>A (SYNE1) NP_892006.3:p.Ter8798Arg
XM_006715407.1:c.26539T>A (SYNE1) XP_006715470.1:p.Ter8847Arg
XM_006715408.1:c.26527T>A (SYNE1) XP_006715471.1:p.Ter8843Arg
XM_006715409.1:c.26518T>A (SYNE1) XP_006715472.1:p.Ter8840Arg
XM_006715410.1:c.26497T>A (SYNE1) XP_006715473.1:p.Ter8833Arg
XM_006715411.1:c.26488T>A (SYNE1) XP_006715474.1:p.Ter8830Arg
XM_006715412.1:c.26482T>A (SYNE1) XP_006715475.1:p.Ter8828Arg
XM_006715413.1:c.26470T>A (SYNE1) XP_006715476.1:p.Ter8824Arg
XM_006715414.1:c.26467T>A (SYNE1) XP_006715477.1:p.Ter8823Arg
XM_006715415.1:c.26428T>A (SYNE1) XP_006715478.1:p.Ter8810Arg
XM_006715416.1:c.26413T>A (SYNE1) XP_006715479.1:p.Ter8805Arg
XM_006715417.1:c.26398T>A (SYNE1) XP_006715480.1:p.Ter8800Arg
XM_006715420.1:c.26386T>A (SYNE1) XP_006715483.1:p.Ter8796Arg
XM_006715421.1:c.26383T>A (SYNE1) XP_006715484.1:p.Ter8795Arg
XM_006715422.1:c.26380T>A (SYNE1) XP_006715485.1:p.Ter8794Arg
XM_006715423.1:c.*203T>A (SYNE1) XP_006715486.1:n.*203T>A
XM_006715424.1:c.*203T>A (SYNE1) XP_006715487.1:n.*203T>A
XM_006715425.1:c.*203T>A (SYNE1) XP_006715488.1:n.*203T>A
XM_011535641.1:c.26536T>A (SYNE1) XP_011533943.1:p.Ter8846Arg
XM_011535642.1:c.26524T>A (SYNE1) XP_011533944.1:p.Ter8842Arg
XM_011535643.1:c.26374T>A (SYNE1) XP_011533945.1:p.Ter8792Arg
XM_011535644.1:c.24814T>A (SYNE1) XP_011533946.1:p.Ter8272Arg
XM_011535645.1:c.24307T>A (SYNE1) XP_011533947.1:p.Ter8103Arg
XM_011535647.1:c.19774T>A (SYNE1) XP_011533949.1:p.Ter6592Arg
NM_001328100.1:c.851-2828A>T (ESR1) NP_001315029.1:n.851-2828A>T
NM_001347701.1:c.*203T>A (SYNE1) NP_001334630.1:n.*203T>A
NM_001347702.1:c.2926T>A (SYNE1) NP_001334631.1:p.Ter976Arg
XM_006715408.2:c.26527T>A (SYNE1) XP_006715471.1:p.Ter8843Arg
XM_006715410.2:c.26497T>A (SYNE1) XP_006715473.1:p.Ter8833Arg
XM_006715412.2:c.26482T>A (SYNE1) XP_006715475.1:p.Ter8828Arg
XM_006715413.2:c.26470T>A (SYNE1) XP_006715476.1:p.Ter8824Arg
XM_006715415.2:c.26428T>A (SYNE1) XP_006715478.1:p.Ter8810Arg
XM_006715416.2:c.26413T>A (SYNE1) XP_006715479.1:p.Ter8805Arg
XM_006715417.2:c.26398T>A (SYNE1) XP_006715480.1:p.Ter8800Arg
XM_006715420.2:c.26386T>A (SYNE1) XP_006715483.1:p.Ter8796Arg
XM_006715421.2:c.26383T>A (SYNE1) XP_006715484.1:p.Ter8795Arg
XM_006715423.2:c.*203T>A (SYNE1) XP_006715486.1:n.*203T>A
XM_006715424.2:c.*203T>A (SYNE1) XP_006715487.1:n.*203T>A
XM_006715425.2:c.*203T>A (SYNE1) XP_006715488.1:n.*203T>A
XM_011535641.2:c.26536T>A (SYNE1) XP_011533943.1:p.Ter8846Arg
XM_011535642.2:c.26524T>A (SYNE1) XP_011533944.1:p.Ter8842Arg
XM_011535645.2:c.24307T>A (SYNE1) XP_011533947.1:p.Ter8103Arg
XM_017010608.1:c.26539T>A (SYNE1) XP_016866097.1:p.Ter8847Arg
XM_017010609.1:c.26539T>A (SYNE1) XP_016866098.1:p.Ter8847Arg
XM_017010610.1:c.26518T>A (SYNE1) XP_016866099.1:p.Ter8840Arg
XM_017010611.2:c.26512T>A (SYNE1) XP_016866100.1:p.Ter8838Arg
XM_017010612.1:c.26461T>A (SYNE1) XP_016866101.1:p.Ter8821Arg
XM_017010613.1:c.26425T>A (SYNE1) XP_016866102.1:p.Ter8809Arg
XM_017010614.1:c.26383T>A (SYNE1) XP_016866103.1:p.Ter8795Arg
XM_017010615.1:c.26272T>A (SYNE1) XP_016866104.1:p.Ter8758Arg
XM_017010616.1:c.*203T>A (SYNE1) XP_016866105.1:n.*203T>A
XM_017010617.1:c.*203T>A (SYNE1) XP_016866106.1:n.*203T>A
XM_017010618.1:c.*203T>A (SYNE1) XP_016866107.1:n.*203T>A
XM_017010619.1:c.24814T>A (SYNE1) XP_016866108.1:p.Ter8272Arg
NM_182961.4:c.26392T>A (SYNE1) MANE Select NP_892006.3:p.Ter8798Arg
NM_001328100.2:c.851-2828A>T (ESR1) NP_001315029.1:n.851-2828A>T
NM_001347701.2:c.*203T>A (SYNE1) NP_001334630.1:n.*203T>A
NM_001347702.2:c.2926T>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Ter976Arg
NM_033071.5:c.26248T>A (SYNE1) NP_149062.2:p.Ter8750Arg