Canonical Allele Identifier: CA366099080
Gene: SYNE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152213639G>T , CM000668.2:g.152213639G>T GRCh38
NC_000006.11:g.152534774G>T , CM000668.1:g.152534774G>T GRCh37
NC_000006.10:g.152576467G>T NCBI36
NG_012855.1:g.428761C>A
NG_012855.2:g.428761C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367255.10:c.22467C>A MANE Select ENSP00000356224.5:p.His7489Gln
ENST00000423061.6:c.22254C>A ENSP00000396024.1:p.His7418Gln
ENST00000341594.9:c.21252C>A ENSP00000341887.6:p.His7084Gln
ENST00000367251.7:c.1233C>A ENSP00000356220.3:p.His411Gln
ENST00000367255.9:c.22467C>A ENSP00000356224.5:p.His7489Gln
ENST00000367256.9:n.6159C>A
ENST00000367257.8:c.405C>A ENSP00000356226.4:p.His135Gln
ENST00000409694.6:n.6051C>A
ENST00000423061.5:c.22254C>A ENSP00000396024.1:p.His7418Gln
NM_033071.3:c.22254C>A NP_149062.1:p.His7418Gln
NM_182961.3:c.22467C>A NP_892006.3:p.His7489Gln
XM_006715407.1:c.22503C>A XP_006715470.1:p.His7501Gln
XM_006715408.1:c.22491C>A XP_006715471.1:p.His7497Gln
XM_006715409.1:c.22482C>A XP_006715472.1:p.His7494Gln
XM_006715410.1:c.22503C>A XP_006715473.1:p.His7501Gln
XM_006715411.1:c.22452C>A XP_006715474.1:p.His7484Gln
XM_006715412.1:c.22488C>A XP_006715475.1:p.His7496Gln
XM_006715413.1:c.22503C>A XP_006715476.1:p.His7501Gln
XM_006715414.1:c.22431C>A XP_006715477.1:p.His7477Gln
XM_006715415.1:c.22503C>A XP_006715478.1:p.His7501Gln
XM_006715416.1:c.22488C>A XP_006715479.1:p.His7496Gln
XM_006715417.1:c.22362C>A XP_006715480.1:p.His7454Gln
XM_006715420.1:c.22350C>A XP_006715483.1:p.His7450Gln
XM_006715421.1:c.22347C>A XP_006715484.1:p.His7449Gln
XM_006715422.1:c.22344C>A XP_006715485.1:p.His7448Gln
XM_006715423.1:c.22503C>A XP_006715486.1:p.His7501Gln
XM_006715424.1:c.22503C>A XP_006715487.1:p.His7501Gln
XM_006715425.1:c.22503C>A XP_006715488.1:p.His7501Gln
XM_011535641.1:c.22500C>A XP_011533943.1:p.His7500Gln
XM_011535642.1:c.22488C>A XP_011533944.1:p.His7496Gln
XM_011535643.1:c.22338C>A XP_011533945.1:p.His7446Gln
XM_011535644.1:c.20778C>A XP_011533946.1:p.His6926Gln
XM_011535645.1:c.20271C>A XP_011533947.1:p.His6757Gln
XM_011535647.1:c.15738C>A XP_011533949.1:p.His5246Gln
XM_006715408.2:c.22491C>A XP_006715471.1:p.His7497Gln
XM_006715410.2:c.22503C>A XP_006715473.1:p.His7501Gln
XM_006715412.2:c.22488C>A XP_006715475.1:p.His7496Gln
XM_006715413.2:c.22503C>A XP_006715476.1:p.His7501Gln
XM_006715415.2:c.22503C>A XP_006715478.1:p.His7501Gln
XM_006715416.2:c.22488C>A XP_006715479.1:p.His7496Gln
XM_006715417.2:c.22362C>A XP_006715480.1:p.His7454Gln
XM_006715420.2:c.22350C>A XP_006715483.1:p.His7450Gln
XM_006715421.2:c.22347C>A XP_006715484.1:p.His7449Gln
XM_006715423.2:c.22503C>A XP_006715486.1:p.His7501Gln
XM_006715424.2:c.22503C>A XP_006715487.1:p.His7501Gln
XM_006715425.2:c.22503C>A XP_006715488.1:p.His7501Gln
XM_011535641.2:c.22500C>A XP_011533943.1:p.His7500Gln
XM_011535642.2:c.22488C>A XP_011533944.1:p.His7496Gln
XM_011535645.2:c.20271C>A XP_011533947.1:p.His6757Gln
XM_017010608.1:c.22503C>A XP_016866097.1:p.His7501Gln
XM_017010609.1:c.22503C>A XP_016866098.1:p.His7501Gln
XM_017010610.1:c.22482C>A XP_016866099.1:p.His7494Gln
XM_017010611.2:c.22476C>A XP_016866100.1:p.His7492Gln
XM_017010612.1:c.22425C>A XP_016866101.1:p.His7475Gln
XM_017010613.1:c.22500C>A XP_016866102.1:p.His7500Gln
XM_017010614.1:c.22347C>A XP_016866103.1:p.His7449Gln
XM_017010615.1:c.22347C>A XP_016866104.1:p.His7449Gln
XM_017010616.1:c.22503C>A XP_016866105.1:p.His7501Gln
XM_017010617.1:c.22500C>A XP_016866106.1:p.His7500Gln
XM_017010618.1:c.22488C>A XP_016866107.1:p.His7496Gln
XM_017010619.1:c.20778C>A XP_016866108.1:p.His6926Gln
NM_182961.4:c.22467C>A MANE Select NP_892006.3:p.His7489Gln
NM_033071.5:c.22254C>A NP_149062.2:p.His7418Gln