Canonical Allele Identifier: CA4056772
Community Standard Title: NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152353427T>C , CM000668.2:g.152353427T>C GRCh38
NC_000006.11:g.152674562T>C , CM000668.1:g.152674562T>C GRCh37
NC_000006.10:g.152716255T>C NCBI36
NG_012855.1:g.288973A>G
NG_012855.2:g.288973A>G

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.11089A>G MANE Select NP_892006.3:p.Ile3697Val
ENST00000367255.10:c.11089A>G MANE Select ENSP00000356224.5:p.Ile3697Val
NM_033071.3:c.11044A>G NP_149062.1:p.Ile3682Val
NM_033071.5:c.11044A>G NP_149062.2:p.Ile3682Val
NM_182961.3:c.11089A>G NP_892006.3:p.Ile3697Val
ENST00000341594.9:c.10951A>G ENSP00000341887.6:p.Ile3651Val
ENST00000367255.9:c.11089A>G ENSP00000356224.5:p.Ile3697Val
ENST00000423061.5:c.11044A>G ENSP00000396024.1:p.Ile3682Val
ENST00000423061.6:c.11044A>G ENSP00000396024.1:p.Ile3682Val
ENST00000471834.1:n.4227A>G
XM_006715407.1:c.11110A>G XP_006715470.1:p.Ile3704Val
XM_006715408.1:c.11110A>G XP_006715471.1:p.Ile3704Val
XM_006715408.2:c.11110A>G XP_006715471.1:p.Ile3704Val
XM_006715409.1:c.11089A>G XP_006715472.1:p.Ile3697Val
XM_006715410.1:c.11110A>G XP_006715473.1:p.Ile3704Val
XM_006715410.2:c.11110A>G XP_006715473.1:p.Ile3704Val
XM_006715411.1:c.11059A>G XP_006715474.1:p.Ile3687Val
XM_006715412.1:c.11110A>G XP_006715475.1:p.Ile3704Val
XM_006715412.2:c.11110A>G XP_006715475.1:p.Ile3704Val
XM_006715413.1:c.11110A>G XP_006715476.1:p.Ile3704Val
XM_006715413.2:c.11110A>G XP_006715476.1:p.Ile3704Val
XM_006715414.1:c.11038A>G XP_006715477.1:p.Ile3680Val
XM_006715415.1:c.11110A>G XP_006715478.1:p.Ile3704Val
XM_006715415.2:c.11110A>G XP_006715478.1:p.Ile3704Val
XM_006715416.1:c.11110A>G XP_006715479.1:p.Ile3704Val
XM_006715416.2:c.11110A>G XP_006715479.1:p.Ile3704Val
XM_006715417.1:c.11110A>G XP_006715480.1:p.Ile3704Val
XM_006715417.2:c.11110A>G XP_006715480.1:p.Ile3704Val
XM_006715420.1:c.11110A>G XP_006715483.1:p.Ile3704Val
XM_006715420.2:c.11110A>G XP_006715483.1:p.Ile3704Val
XM_006715421.1:c.10954A>G XP_006715484.1:p.Ile3652Val
XM_006715421.2:c.10954A>G XP_006715484.1:p.Ile3652Val
XM_006715422.1:c.10951A>G XP_006715485.1:p.Ile3651Val
XM_006715423.1:c.11110A>G XP_006715486.1:p.Ile3704Val
XM_006715423.2:c.11110A>G XP_006715486.1:p.Ile3704Val
XM_006715424.1:c.11110A>G XP_006715487.1:p.Ile3704Val
XM_006715424.2:c.11110A>G XP_006715487.1:p.Ile3704Val
XM_006715425.1:c.11110A>G XP_006715488.1:p.Ile3704Val
XM_006715425.2:c.11110A>G XP_006715488.1:p.Ile3704Val
XM_011535641.1:c.11110A>G XP_011533943.1:p.Ile3704Val
XM_011535641.2:c.11110A>G XP_011533943.1:p.Ile3704Val
XM_011535642.1:c.11110A>G XP_011533944.1:p.Ile3704Val
XM_011535642.2:c.11110A>G XP_011533944.1:p.Ile3704Val
XM_011535643.1:c.10945A>G XP_011533945.1:p.Ile3649Val
XM_011535644.1:c.9385A>G XP_011533946.1:p.Ile3129Val
XM_011535645.1:c.8878A>G XP_011533947.1:p.Ile2960Val
XM_011535645.2:c.8878A>G XP_011533947.1:p.Ile2960Val
XM_011535646.1:c.11110A>G XP_011533948.1:p.Ile3704Val
XM_011535647.1:c.4345A>G XP_011533949.1:p.Ile1449Val
XM_017010608.1:c.11110A>G XP_016866097.1:p.Ile3704Val
XM_017010609.1:c.11110A>G XP_016866098.1:p.Ile3704Val
XM_017010610.1:c.11089A>G XP_016866099.1:p.Ile3697Val
XM_017010611.2:c.11083A>G XP_016866100.1:p.Ile3695Val
XM_017010612.1:c.11032A>G XP_016866101.1:p.Ile3678Val
XM_017010613.1:c.11110A>G XP_016866102.1:p.Ile3704Val
XM_017010614.1:c.11110A>G XP_016866103.1:p.Ile3704Val
XM_017010615.1:c.11110A>G XP_016866104.1:p.Ile3704Val
XM_017010616.1:c.11110A>G XP_016866105.1:p.Ile3704Val
XM_017010617.1:c.11110A>G XP_016866106.1:p.Ile3704Val
XM_017010618.1:c.11110A>G XP_016866107.1:p.Ile3704Val
XM_017010619.1:c.9385A>G XP_016866108.1:p.Ile3129Val
XR_001743287.1:n.11593A>G