Canonical Allele Identifier: CA366089199

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122644G>A , CM000668.2:g.152122644G>A GRCh38
NC_000006.11:g.152443779G>A , CM000668.1:g.152443779G>A GRCh37
NC_000006.10:g.152485472G>A NCBI36
NG_012855.1:g.519756C>T
NG_008493.2:g.470954G>A
NG_012855.2:g.519756C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2720C>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Ser907Phe
ENST00000367255.10:c.26186C>T (SYNE1) MANE Select ENSP00000356224.5:p.Ser8729Phe
ENST00000423061.6:c.26042C>T (SYNE1) ENSP00000396024.1:p.Ser8681Phe
ENST00000672154.1:c.1529C>T (SYNE1)
ENST00000672169.1:c.1904C>T (SYNE1)
ENST00000673173.1:c.1771C>T (SYNE1)
ENST00000673451.1:c.2036C>T (SYNE1) ENSP00000500189.1:n.2036C>T
ENST00000341594.9:c.24971C>T (SYNE1) ENSP00000341887.6:p.Ser8324Phe
ENST00000347037.9:n.2934C>T (SYNE1)
ENST00000354674.4:c.2720C>T (SYNE1) ENSP00000346701.4:p.Ser907Phe
ENST00000367251.7:c.4962C>T (SYNE1) ENSP00000356220.3:p.Phe1654=
ENST00000367255.9:c.26186C>T (SYNE1) ENSP00000356224.5:p.Ser8729Phe
ENST00000367256.9:n.9878C>T (SYNE1)
ENST00000367257.8:c.4065C>T (SYNE1) ENSP00000356226.4:p.Phe1355=
ENST00000409694.6:n.9770C>T (SYNE1)
ENST00000423061.5:c.26042C>T (SYNE1) ENSP00000396024.1:p.Ser8681Phe
ENST00000427531.6:c.851-2622G>A (ESR1) ENSP00000394721.2:n.851-2622G>A
ENST00000460912.6:n.2800C>T (SYNE1)
ENST00000478916.5:n.6823C>T (SYNE1)
ENST00000536990.5:n.2964C>T (SYNE1)
ENST00000539504.5:c.2651C>T (SYNE1) ENSP00000441052.1:p.Ser884Phe
NM_033071.3:c.26042C>T (SYNE1) NP_149062.1:p.Ser8681Phe
NM_182961.3:c.26186C>T (SYNE1) NP_892006.3:p.Ser8729Phe
XM_006715407.1:c.26333C>T (SYNE1) XP_006715470.1:p.Ser8778Phe
XM_006715408.1:c.26321C>T (SYNE1) XP_006715471.1:p.Ser8774Phe
XM_006715409.1:c.26312C>T (SYNE1) XP_006715472.1:p.Ser8771Phe
XM_006715410.1:c.26291C>T (SYNE1) XP_006715473.1:p.Ser8764Phe
XM_006715411.1:c.26282C>T (SYNE1) XP_006715474.1:p.Ser8761Phe
XM_006715412.1:c.26276C>T (SYNE1) XP_006715475.1:p.Ser8759Phe
XM_006715413.1:c.26264C>T (SYNE1) XP_006715476.1:p.Ser8755Phe
XM_006715414.1:c.26261C>T (SYNE1) XP_006715477.1:p.Ser8754Phe
XM_006715415.1:c.26222C>T (SYNE1) XP_006715478.1:p.Ser8741Phe
XM_006715416.1:c.26207C>T (SYNE1) XP_006715479.1:p.Ser8736Phe
XM_006715417.1:c.26192C>T (SYNE1) XP_006715480.1:p.Ser8731Phe
XM_006715420.1:c.26180C>T (SYNE1) XP_006715483.1:p.Ser8727Phe
XM_006715421.1:c.26177C>T (SYNE1) XP_006715484.1:p.Ser8726Phe
XM_006715422.1:c.26174C>T (SYNE1) XP_006715485.1:p.Ser8725Phe
XM_006715423.1:c.26274C>T (SYNE1) XP_006715486.1:p.Phe8758=
XM_006715424.1:c.26232C>T (SYNE1) XP_006715487.1:p.Phe8744=
XM_006715425.1:c.26163C>T (SYNE1) XP_006715488.1:p.Phe8721=
XM_011535641.1:c.26330C>T (SYNE1) XP_011533943.1:p.Ser8777Phe
XM_011535642.1:c.26318C>T (SYNE1) XP_011533944.1:p.Ser8773Phe
XM_011535643.1:c.26168C>T (SYNE1) XP_011533945.1:p.Ser8723Phe
XM_011535644.1:c.24608C>T (SYNE1) XP_011533946.1:p.Ser8203Phe
XM_011535645.1:c.24101C>T (SYNE1) XP_011533947.1:p.Ser8034Phe
XM_011535647.1:c.19568C>T (SYNE1) XP_011533949.1:p.Ser6523Phe
NM_001328100.1:c.851-2622G>A (ESR1) NP_001315029.1:n.851-2622G>A
NM_001347701.1:c.2733C>T (SYNE1) NP_001334630.1:p.Phe911=
NM_001347702.1:c.2720C>T (SYNE1) NP_001334631.1:p.Ser907Phe
XM_006715408.2:c.26321C>T (SYNE1) XP_006715471.1:p.Ser8774Phe
XM_006715410.2:c.26291C>T (SYNE1) XP_006715473.1:p.Ser8764Phe
XM_006715412.2:c.26276C>T (SYNE1) XP_006715475.1:p.Ser8759Phe
XM_006715413.2:c.26264C>T (SYNE1) XP_006715476.1:p.Ser8755Phe
XM_006715415.2:c.26222C>T (SYNE1) XP_006715478.1:p.Ser8741Phe
XM_006715416.2:c.26207C>T (SYNE1) XP_006715479.1:p.Ser8736Phe
XM_006715417.2:c.26192C>T (SYNE1) XP_006715480.1:p.Ser8731Phe
XM_006715420.2:c.26180C>T (SYNE1) XP_006715483.1:p.Ser8727Phe
XM_006715421.2:c.26177C>T (SYNE1) XP_006715484.1:p.Ser8726Phe
XM_006715423.2:c.26274C>T (SYNE1) XP_006715486.1:p.Phe8758=
XM_006715424.2:c.26232C>T (SYNE1) XP_006715487.1:p.Phe8744=
XM_006715425.2:c.26163C>T (SYNE1) XP_006715488.1:p.Phe8721=
XM_011535641.2:c.26330C>T (SYNE1) XP_011533943.1:p.Ser8777Phe
XM_011535642.2:c.26318C>T (SYNE1) XP_011533944.1:p.Ser8773Phe
XM_011535645.2:c.24101C>T (SYNE1) XP_011533947.1:p.Ser8034Phe
XM_017010608.1:c.26333C>T (SYNE1) XP_016866097.1:p.Ser8778Phe
XM_017010609.1:c.26333C>T (SYNE1) XP_016866098.1:p.Ser8778Phe
XM_017010610.1:c.26312C>T (SYNE1) XP_016866099.1:p.Ser8771Phe
XM_017010611.2:c.26306C>T (SYNE1) XP_016866100.1:p.Ser8769Phe
XM_017010612.1:c.26255C>T (SYNE1) XP_016866101.1:p.Ser8752Phe
XM_017010613.1:c.26219C>T (SYNE1) XP_016866102.1:p.Ser8740Phe
XM_017010614.1:c.26177C>T (SYNE1) XP_016866103.1:p.Ser8726Phe
XM_017010615.1:c.26066C>T (SYNE1) XP_016866104.1:p.Ser8689Phe
XM_017010616.1:c.26205C>T (SYNE1) XP_016866105.1:p.Phe8735=
XM_017010617.1:c.26160C>T (SYNE1) XP_016866106.1:p.Phe8720=
XM_017010618.1:c.26148C>T (SYNE1) XP_016866107.1:p.Phe8716=
XM_017010619.1:c.24608C>T (SYNE1) XP_016866108.1:p.Ser8203Phe
NM_182961.4:c.26186C>T (SYNE1) MANE Select NP_892006.3:p.Ser8729Phe
NM_001328100.2:c.851-2622G>A (ESR1) NP_001315029.1:n.851-2622G>A
NM_001347701.2:c.2733C>T (SYNE1) NP_001334630.1:p.Phe911=
NM_001347702.2:c.2720C>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Ser907Phe
NM_033071.5:c.26042C>T (SYNE1) NP_149062.2:p.Ser8681Phe