Canonical Allele Identifier: CA366089046

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122600C>T , CM000668.2:g.152122600C>T GRCh38
NC_000006.11:g.152443735C>T , CM000668.1:g.152443735C>T GRCh37
NC_000006.10:g.152485428C>T NCBI36
NG_012855.1:g.519800G>A
NG_008493.2:g.470910C>T
NG_012855.2:g.519800G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2764G>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Val922Ile
ENST00000367255.10:c.26230G>A (SYNE1) MANE Select ENSP00000356224.5:p.Val8744Ile
ENST00000423061.6:c.26086G>A (SYNE1) ENSP00000396024.1:p.Val8696Ile
ENST00000672154.1:c.1573G>A (SYNE1)
ENST00000672169.1:c.1948G>A (SYNE1)
ENST00000673173.1:c.1815G>A (SYNE1)
ENST00000673451.1:c.2080G>A (SYNE1) ENSP00000500189.1:n.2080G>A
ENST00000341594.9:c.25015G>A (SYNE1) ENSP00000341887.6:p.Val8339Ile
ENST00000347037.9:n.2978G>A (SYNE1)
ENST00000354674.4:c.2764G>A (SYNE1) ENSP00000346701.4:p.Val922Ile
ENST00000367251.7:c.5006G>A (SYNE1) ENSP00000356220.3:n.5006G>A
ENST00000367255.9:c.26230G>A (SYNE1) ENSP00000356224.5:p.Val8744Ile
ENST00000367256.9:n.9922G>A (SYNE1)
ENST00000367257.8:c.4109G>A (SYNE1) ENSP00000356226.4:n.4109G>A
ENST00000409694.6:n.9814G>A (SYNE1)
ENST00000423061.5:c.26086G>A (SYNE1) ENSP00000396024.1:p.Val8696Ile
ENST00000427531.6:c.851-2666C>T (ESR1) ENSP00000394721.2:n.851-2666C>T
ENST00000460912.6:n.2844G>A (SYNE1)
ENST00000478916.5:n.6867G>A (SYNE1)
ENST00000539504.5:c.2695G>A (SYNE1) ENSP00000441052.1:p.Val899Ile
NM_033071.3:c.26086G>A (SYNE1) NP_149062.1:p.Val8696Ile
NM_182961.3:c.26230G>A (SYNE1) NP_892006.3:p.Val8744Ile
XM_006715407.1:c.26377G>A (SYNE1) XP_006715470.1:p.Val8793Ile
XM_006715408.1:c.26365G>A (SYNE1) XP_006715471.1:p.Val8789Ile
XM_006715409.1:c.26356G>A (SYNE1) XP_006715472.1:p.Val8786Ile
XM_006715410.1:c.26335G>A (SYNE1) XP_006715473.1:p.Val8779Ile
XM_006715411.1:c.26326G>A (SYNE1) XP_006715474.1:p.Val8776Ile
XM_006715412.1:c.26320G>A (SYNE1) XP_006715475.1:p.Val8774Ile
XM_006715413.1:c.26308G>A (SYNE1) XP_006715476.1:p.Val8770Ile
XM_006715414.1:c.26305G>A (SYNE1) XP_006715477.1:p.Val8769Ile
XM_006715415.1:c.26266G>A (SYNE1) XP_006715478.1:p.Val8756Ile
XM_006715416.1:c.26251G>A (SYNE1) XP_006715479.1:p.Val8751Ile
XM_006715417.1:c.26236G>A (SYNE1) XP_006715480.1:p.Val8746Ile
XM_006715420.1:c.26224G>A (SYNE1) XP_006715483.1:p.Val8742Ile
XM_006715421.1:c.26221G>A (SYNE1) XP_006715484.1:p.Val8741Ile
XM_006715422.1:c.26218G>A (SYNE1) XP_006715485.1:p.Val8740Ile
XM_006715423.1:c.*41G>A (SYNE1) XP_006715486.1:n.*41G>A
XM_006715424.1:c.*41G>A (SYNE1) XP_006715487.1:n.*41G>A
XM_006715425.1:c.*41G>A (SYNE1) XP_006715488.1:n.*41G>A
XM_011535641.1:c.26374G>A (SYNE1) XP_011533943.1:p.Val8792Ile
XM_011535642.1:c.26362G>A (SYNE1) XP_011533944.1:p.Val8788Ile
XM_011535643.1:c.26212G>A (SYNE1) XP_011533945.1:p.Val8738Ile
XM_011535644.1:c.24652G>A (SYNE1) XP_011533946.1:p.Val8218Ile
XM_011535645.1:c.24145G>A (SYNE1) XP_011533947.1:p.Val8049Ile
XM_011535647.1:c.19612G>A (SYNE1) XP_011533949.1:p.Val6538Ile
NM_001328100.1:c.851-2666C>T (ESR1) NP_001315029.1:n.851-2666C>T
NM_001347701.1:c.*41G>A (SYNE1) NP_001334630.1:n.*41G>A
NM_001347702.1:c.2764G>A (SYNE1) NP_001334631.1:p.Val922Ile
XM_006715408.2:c.26365G>A (SYNE1) XP_006715471.1:p.Val8789Ile
XM_006715410.2:c.26335G>A (SYNE1) XP_006715473.1:p.Val8779Ile
XM_006715412.2:c.26320G>A (SYNE1) XP_006715475.1:p.Val8774Ile
XM_006715413.2:c.26308G>A (SYNE1) XP_006715476.1:p.Val8770Ile
XM_006715415.2:c.26266G>A (SYNE1) XP_006715478.1:p.Val8756Ile
XM_006715416.2:c.26251G>A (SYNE1) XP_006715479.1:p.Val8751Ile
XM_006715417.2:c.26236G>A (SYNE1) XP_006715480.1:p.Val8746Ile
XM_006715420.2:c.26224G>A (SYNE1) XP_006715483.1:p.Val8742Ile
XM_006715421.2:c.26221G>A (SYNE1) XP_006715484.1:p.Val8741Ile
XM_006715423.2:c.*41G>A (SYNE1) XP_006715486.1:n.*41G>A
XM_006715424.2:c.*41G>A (SYNE1) XP_006715487.1:n.*41G>A
XM_006715425.2:c.*41G>A (SYNE1) XP_006715488.1:n.*41G>A
XM_011535641.2:c.26374G>A (SYNE1) XP_011533943.1:p.Val8792Ile
XM_011535642.2:c.26362G>A (SYNE1) XP_011533944.1:p.Val8788Ile
XM_011535645.2:c.24145G>A (SYNE1) XP_011533947.1:p.Val8049Ile
XM_017010608.1:c.26377G>A (SYNE1) XP_016866097.1:p.Val8793Ile
XM_017010609.1:c.26377G>A (SYNE1) XP_016866098.1:p.Val8793Ile
XM_017010610.1:c.26356G>A (SYNE1) XP_016866099.1:p.Val8786Ile
XM_017010611.2:c.26350G>A (SYNE1) XP_016866100.1:p.Val8784Ile
XM_017010612.1:c.26299G>A (SYNE1) XP_016866101.1:p.Val8767Ile
XM_017010613.1:c.26263G>A (SYNE1) XP_016866102.1:p.Val8755Ile
XM_017010614.1:c.26221G>A (SYNE1) XP_016866103.1:p.Val8741Ile
XM_017010615.1:c.26110G>A (SYNE1) XP_016866104.1:p.Val8704Ile
XM_017010616.1:c.*41G>A (SYNE1) XP_016866105.1:n.*41G>A
XM_017010617.1:c.*41G>A (SYNE1) XP_016866106.1:n.*41G>A
XM_017010618.1:c.*41G>A (SYNE1) XP_016866107.1:n.*41G>A
XM_017010619.1:c.24652G>A (SYNE1) XP_016866108.1:p.Val8218Ile
NM_182961.4:c.26230G>A (SYNE1) MANE Select NP_892006.3:p.Val8744Ile
NM_001328100.2:c.851-2666C>T (ESR1) NP_001315029.1:n.851-2666C>T
NM_001347701.2:c.*41G>A (SYNE1) NP_001334630.1:n.*41G>A
NM_001347702.2:c.2764G>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Val922Ile
NM_033071.5:c.26086G>A (SYNE1) NP_149062.2:p.Val8696Ile