Canonical Allele Identifier: CA366107886
Community Standard Title: NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152310744C>A , CM000668.2:g.152310744C>A GRCh38
NC_000006.11:g.152631879C>A , CM000668.1:g.152631879C>A GRCh37
NC_000006.10:g.152673572C>A NCBI36
NG_012855.1:g.331656G>T
NG_012855.2:g.331656G>T

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.16840G>T MANE Select NP_892006.3:p.Glu5614Ter
ENST00000367255.10:c.16840G>T MANE Select ENSP00000356224.5:p.Glu5614Ter
NM_033071.3:c.16627G>T NP_149062.1:p.Glu5543Ter
NM_033071.5:c.16627G>T NP_149062.2:p.Glu5543Ter
NM_182961.3:c.16840G>T NP_892006.3:p.Glu5614Ter
ENST00000341594.9:c.15625G>T ENSP00000341887.6:p.Glu5209Ter
ENST00000367255.9:c.16840G>T ENSP00000356224.5:p.Glu5614Ter
ENST00000367256.9:n.532G>T
ENST00000409694.6:n.424G>T
ENST00000423061.5:c.16627G>T ENSP00000396024.1:p.Glu5543Ter
ENST00000423061.6:c.16627G>T ENSP00000396024.1:p.Glu5543Ter
ENST00000682252.1:n.911G>T
ENST00000684208.1:n.911G>T
ENST00000684643.1:n.1000G>T
XM_006715407.1:c.16861G>T XP_006715470.1:p.Glu5621Ter
XM_006715408.1:c.16861G>T XP_006715471.1:p.Glu5621Ter
XM_006715408.2:c.16861G>T XP_006715471.1:p.Glu5621Ter
XM_006715409.1:c.16840G>T XP_006715472.1:p.Glu5614Ter
XM_006715410.1:c.16861G>T XP_006715473.1:p.Glu5621Ter
XM_006715410.2:c.16861G>T XP_006715473.1:p.Glu5621Ter
XM_006715411.1:c.16810G>T XP_006715474.1:p.Glu5604Ter
XM_006715412.1:c.16861G>T XP_006715475.1:p.Glu5621Ter
XM_006715412.2:c.16861G>T XP_006715475.1:p.Glu5621Ter
XM_006715413.1:c.16861G>T XP_006715476.1:p.Glu5621Ter
XM_006715413.2:c.16861G>T XP_006715476.1:p.Glu5621Ter
XM_006715414.1:c.16789G>T XP_006715477.1:p.Glu5597Ter
XM_006715415.1:c.16861G>T XP_006715478.1:p.Glu5621Ter
XM_006715415.2:c.16861G>T XP_006715478.1:p.Glu5621Ter
XM_006715416.1:c.16861G>T XP_006715479.1:p.Glu5621Ter
XM_006715416.2:c.16861G>T XP_006715479.1:p.Glu5621Ter
XM_006715417.1:c.16861G>T XP_006715480.1:p.Glu5621Ter
XM_006715417.2:c.16861G>T XP_006715480.1:p.Glu5621Ter
XM_006715420.1:c.16861G>T XP_006715483.1:p.Glu5621Ter
XM_006715420.2:c.16861G>T XP_006715483.1:p.Glu5621Ter
XM_006715421.1:c.16705G>T XP_006715484.1:p.Glu5569Ter
XM_006715421.2:c.16705G>T XP_006715484.1:p.Glu5569Ter
XM_006715422.1:c.16702G>T XP_006715485.1:p.Glu5568Ter
XM_006715423.1:c.16861G>T XP_006715486.1:p.Glu5621Ter
XM_006715423.2:c.16861G>T XP_006715486.1:p.Glu5621Ter
XM_006715424.1:c.16861G>T XP_006715487.1:p.Glu5621Ter
XM_006715424.2:c.16861G>T XP_006715487.1:p.Glu5621Ter
XM_006715425.1:c.16861G>T XP_006715488.1:p.Glu5621Ter
XM_006715425.2:c.16861G>T XP_006715488.1:p.Glu5621Ter
XM_011535641.1:c.16861G>T XP_011533943.1:p.Glu5621Ter
XM_011535641.2:c.16861G>T XP_011533943.1:p.Glu5621Ter
XM_011535642.1:c.16861G>T XP_011533944.1:p.Glu5621Ter
XM_011535642.2:c.16861G>T XP_011533944.1:p.Glu5621Ter
XM_011535643.1:c.16696G>T XP_011533945.1:p.Glu5566Ter
XM_011535644.1:c.15136G>T XP_011533946.1:p.Glu5046Ter
XM_011535645.1:c.14629G>T XP_011533947.1:p.Glu4877Ter
XM_011535645.2:c.14629G>T XP_011533947.1:p.Glu4877Ter
XM_011535646.1:c.16861G>T XP_011533948.1:p.Glu5621Ter
XM_011535647.1:c.10096G>T XP_011533949.1:p.Glu3366Ter
XM_017010608.1:c.16861G>T XP_016866097.1:p.Glu5621Ter
XM_017010609.1:c.16861G>T XP_016866098.1:p.Glu5621Ter
XM_017010610.1:c.16840G>T XP_016866099.1:p.Glu5614Ter
XM_017010611.2:c.16834G>T XP_016866100.1:p.Glu5612Ter
XM_017010612.1:c.16783G>T XP_016866101.1:p.Glu5595Ter
XM_017010613.1:c.16861G>T XP_016866102.1:p.Glu5621Ter
XM_017010614.1:c.16861G>T XP_016866103.1:p.Glu5621Ter
XM_017010615.1:c.16861G>T XP_016866104.1:p.Glu5621Ter
XM_017010616.1:c.16861G>T XP_016866105.1:p.Glu5621Ter
XM_017010617.1:c.16861G>T XP_016866106.1:p.Glu5621Ter
XM_017010618.1:c.16861G>T XP_016866107.1:p.Glu5621Ter
XM_017010619.1:c.15136G>T XP_016866108.1:p.Glu5046Ter
XR_001743287.1:n.17344G>T