Canonical Allele Identifier: CA366089101

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122614C>A , CM000668.2:g.152122614C>A GRCh38
NC_000006.11:g.152443749C>A , CM000668.1:g.152443749C>A GRCh37
NC_000006.10:g.152485442C>A NCBI36
NG_012855.1:g.519786G>T
NG_008493.2:g.470924C>A
NG_012855.2:g.519786G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000354674.5:c.2750G>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Gly917Val
ENST00000367255.10:c.26216G>T (SYNE1) MANE Select ENSP00000356224.5:p.Gly8739Val
ENST00000423061.6:c.26072G>T (SYNE1) ENSP00000396024.1:p.Gly8691Val
ENST00000672154.1:c.1559G>T (SYNE1)
ENST00000672169.1:c.1934G>T (SYNE1)
ENST00000673173.1:c.1801G>T (SYNE1)
ENST00000673451.1:c.2066G>T (SYNE1) ENSP00000500189.1:n.2066G>T
ENST00000341594.9:c.25001G>T (SYNE1) ENSP00000341887.6:p.Gly8334Val
ENST00000347037.9:n.2964G>T (SYNE1)
ENST00000354674.4:c.2750G>T (SYNE1) ENSP00000346701.4:p.Gly917Val
ENST00000367251.7:c.4992G>T (SYNE1) ENSP00000356220.3:n.4992G>T
ENST00000367255.9:c.26216G>T (SYNE1) ENSP00000356224.5:p.Gly8739Val
ENST00000367256.9:n.9908G>T (SYNE1)
ENST00000367257.8:c.4095G>T (SYNE1) ENSP00000356226.4:n.4095G>T
ENST00000409694.6:n.9800G>T (SYNE1)
ENST00000423061.5:c.26072G>T (SYNE1) ENSP00000396024.1:p.Gly8691Val
ENST00000427531.6:c.851-2652C>A (ESR1) ENSP00000394721.2:n.851-2652C>A
ENST00000460912.6:n.2830G>T (SYNE1)
ENST00000478916.5:n.6853G>T (SYNE1)
ENST00000536990.5:n.2994G>T (SYNE1)
ENST00000539504.5:c.2681G>T (SYNE1) ENSP00000441052.1:p.Gly894Val
NM_033071.3:c.26072G>T (SYNE1) NP_149062.1:p.Gly8691Val
NM_182961.3:c.26216G>T (SYNE1) NP_892006.3:p.Gly8739Val
XM_006715407.1:c.26363G>T (SYNE1) XP_006715470.1:p.Gly8788Val
XM_006715408.1:c.26351G>T (SYNE1) XP_006715471.1:p.Gly8784Val
XM_006715409.1:c.26342G>T (SYNE1) XP_006715472.1:p.Gly8781Val
XM_006715410.1:c.26321G>T (SYNE1) XP_006715473.1:p.Gly8774Val
XM_006715411.1:c.26312G>T (SYNE1) XP_006715474.1:p.Gly8771Val
XM_006715412.1:c.26306G>T (SYNE1) XP_006715475.1:p.Gly8769Val
XM_006715413.1:c.26294G>T (SYNE1) XP_006715476.1:p.Gly8765Val
XM_006715414.1:c.26291G>T (SYNE1) XP_006715477.1:p.Gly8764Val
XM_006715415.1:c.26252G>T (SYNE1) XP_006715478.1:p.Gly8751Val
XM_006715416.1:c.26237G>T (SYNE1) XP_006715479.1:p.Gly8746Val
XM_006715417.1:c.26222G>T (SYNE1) XP_006715480.1:p.Gly8741Val
XM_006715420.1:c.26210G>T (SYNE1) XP_006715483.1:p.Gly8737Val
XM_006715421.1:c.26207G>T (SYNE1) XP_006715484.1:p.Gly8736Val
XM_006715422.1:c.26204G>T (SYNE1) XP_006715485.1:p.Gly8735Val
XM_006715423.1:c.*27G>T (SYNE1) XP_006715486.1:n.*27G>T
XM_006715424.1:c.*27G>T (SYNE1) XP_006715487.1:n.*27G>T
XM_006715425.1:c.*27G>T (SYNE1) XP_006715488.1:n.*27G>T
XM_011535641.1:c.26360G>T (SYNE1) XP_011533943.1:p.Gly8787Val
XM_011535642.1:c.26348G>T (SYNE1) XP_011533944.1:p.Gly8783Val
XM_011535643.1:c.26198G>T (SYNE1) XP_011533945.1:p.Gly8733Val
XM_011535644.1:c.24638G>T (SYNE1) XP_011533946.1:p.Gly8213Val
XM_011535645.1:c.24131G>T (SYNE1) XP_011533947.1:p.Gly8044Val
XM_011535647.1:c.19598G>T (SYNE1) XP_011533949.1:p.Gly6533Val
NM_001328100.1:c.851-2652C>A (ESR1) NP_001315029.1:n.851-2652C>A
NM_001347701.1:c.*27G>T (SYNE1) NP_001334630.1:n.*27G>T
NM_001347702.1:c.2750G>T (SYNE1) NP_001334631.1:p.Gly917Val
XM_006715408.2:c.26351G>T (SYNE1) XP_006715471.1:p.Gly8784Val
XM_006715410.2:c.26321G>T (SYNE1) XP_006715473.1:p.Gly8774Val
XM_006715412.2:c.26306G>T (SYNE1) XP_006715475.1:p.Gly8769Val
XM_006715413.2:c.26294G>T (SYNE1) XP_006715476.1:p.Gly8765Val
XM_006715415.2:c.26252G>T (SYNE1) XP_006715478.1:p.Gly8751Val
XM_006715416.2:c.26237G>T (SYNE1) XP_006715479.1:p.Gly8746Val
XM_006715417.2:c.26222G>T (SYNE1) XP_006715480.1:p.Gly8741Val
XM_006715420.2:c.26210G>T (SYNE1) XP_006715483.1:p.Gly8737Val
XM_006715421.2:c.26207G>T (SYNE1) XP_006715484.1:p.Gly8736Val
XM_006715423.2:c.*27G>T (SYNE1) XP_006715486.1:n.*27G>T
XM_006715424.2:c.*27G>T (SYNE1) XP_006715487.1:n.*27G>T
XM_006715425.2:c.*27G>T (SYNE1) XP_006715488.1:n.*27G>T
XM_011535641.2:c.26360G>T (SYNE1) XP_011533943.1:p.Gly8787Val
XM_011535642.2:c.26348G>T (SYNE1) XP_011533944.1:p.Gly8783Val
XM_011535645.2:c.24131G>T (SYNE1) XP_011533947.1:p.Gly8044Val
XM_017010608.1:c.26363G>T (SYNE1) XP_016866097.1:p.Gly8788Val
XM_017010609.1:c.26363G>T (SYNE1) XP_016866098.1:p.Gly8788Val
XM_017010610.1:c.26342G>T (SYNE1) XP_016866099.1:p.Gly8781Val
XM_017010611.2:c.26336G>T (SYNE1) XP_016866100.1:p.Gly8779Val
XM_017010612.1:c.26285G>T (SYNE1) XP_016866101.1:p.Gly8762Val
XM_017010613.1:c.26249G>T (SYNE1) XP_016866102.1:p.Gly8750Val
XM_017010614.1:c.26207G>T (SYNE1) XP_016866103.1:p.Gly8736Val
XM_017010615.1:c.26096G>T (SYNE1) XP_016866104.1:p.Gly8699Val
XM_017010616.1:c.*27G>T (SYNE1) XP_016866105.1:n.*27G>T
XM_017010617.1:c.*27G>T (SYNE1) XP_016866106.1:n.*27G>T
XM_017010618.1:c.*27G>T (SYNE1) XP_016866107.1:n.*27G>T
XM_017010619.1:c.24638G>T (SYNE1) XP_016866108.1:p.Gly8213Val
NM_182961.4:c.26216G>T (SYNE1) MANE Select NP_892006.3:p.Gly8739Val
NM_001328100.2:c.851-2652C>A (ESR1) NP_001315029.1:n.851-2652C>A
NM_001347701.2:c.*27G>T (SYNE1) NP_001334630.1:n.*27G>T
NM_001347702.2:c.2750G>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Gly917Val
NM_033071.5:c.26072G>T (SYNE1) NP_149062.2:p.Gly8691Val