Canonical Allele Identifier: CA366088471

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122464C>A , CM000668.2:g.152122464C>A GRCh38
NC_000006.11:g.152443599C>A , CM000668.1:g.152443599C>A GRCh37
NC_000006.10:g.152485292C>A NCBI36
NG_012855.1:g.519936G>T
NG_008493.2:g.470774C>A
NG_012855.2:g.519936G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2900G>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Arg967Ile
ENST00000367255.10:c.26366G>T (SYNE1) MANE Select ENSP00000356224.5:p.Arg8789Ile
ENST00000423061.6:c.26222G>T (SYNE1) ENSP00000396024.1:p.Arg8741Ile
ENST00000672154.1:c.1709G>T (SYNE1)
ENST00000672169.1:c.2084G>T (SYNE1)
ENST00000673173.1:c.1951G>T (SYNE1)
ENST00000673451.1:c.2216G>T (SYNE1) ENSP00000500189.1:n.2216G>T
ENST00000341594.9:c.25151G>T (SYNE1) ENSP00000341887.6:p.Arg8384Ile
ENST00000347037.9:n.3114G>T (SYNE1)
ENST00000354674.4:c.2900G>T (SYNE1) ENSP00000346701.4:p.Arg967Ile
ENST00000367251.7:c.5142G>T (SYNE1) ENSP00000356220.3:n.5142G>T
ENST00000367255.9:c.26366G>T (SYNE1) ENSP00000356224.5:p.Arg8789Ile
ENST00000367256.9:n.10058G>T (SYNE1)
ENST00000367257.8:c.4245G>T (SYNE1) ENSP00000356226.4:n.4245G>T
ENST00000409694.6:n.9950G>T (SYNE1)
ENST00000423061.5:c.26222G>T (SYNE1) ENSP00000396024.1:p.Arg8741Ile
ENST00000427531.6:c.851-2802C>A (ESR1) ENSP00000394721.2:n.851-2802C>A
ENST00000460912.6:n.2980G>T (SYNE1)
ENST00000478916.5:n.7003G>T (SYNE1)
ENST00000539504.5:c.2831G>T (SYNE1) ENSP00000441052.1:p.Arg944Ile
NM_033071.3:c.26222G>T (SYNE1) NP_149062.1:p.Arg8741Ile
NM_182961.3:c.26366G>T (SYNE1) NP_892006.3:p.Arg8789Ile
XM_006715407.1:c.26513G>T (SYNE1) XP_006715470.1:p.Arg8838Ile
XM_006715408.1:c.26501G>T (SYNE1) XP_006715471.1:p.Arg8834Ile
XM_006715409.1:c.26492G>T (SYNE1) XP_006715472.1:p.Arg8831Ile
XM_006715410.1:c.26471G>T (SYNE1) XP_006715473.1:p.Arg8824Ile
XM_006715411.1:c.26462G>T (SYNE1) XP_006715474.1:p.Arg8821Ile
XM_006715412.1:c.26456G>T (SYNE1) XP_006715475.1:p.Arg8819Ile
XM_006715413.1:c.26444G>T (SYNE1) XP_006715476.1:p.Arg8815Ile
XM_006715414.1:c.26441G>T (SYNE1) XP_006715477.1:p.Arg8814Ile
XM_006715415.1:c.26402G>T (SYNE1) XP_006715478.1:p.Arg8801Ile
XM_006715416.1:c.26387G>T (SYNE1) XP_006715479.1:p.Arg8796Ile
XM_006715417.1:c.26372G>T (SYNE1) XP_006715480.1:p.Arg8791Ile
XM_006715420.1:c.26360G>T (SYNE1) XP_006715483.1:p.Arg8787Ile
XM_006715421.1:c.26357G>T (SYNE1) XP_006715484.1:p.Arg8786Ile
XM_006715422.1:c.26354G>T (SYNE1) XP_006715485.1:p.Arg8785Ile
XM_006715423.1:c.*177G>T (SYNE1) XP_006715486.1:n.*177G>T
XM_006715424.1:c.*177G>T (SYNE1) XP_006715487.1:n.*177G>T
XM_006715425.1:c.*177G>T (SYNE1) XP_006715488.1:n.*177G>T
XM_011535641.1:c.26510G>T (SYNE1) XP_011533943.1:p.Arg8837Ile
XM_011535642.1:c.26498G>T (SYNE1) XP_011533944.1:p.Arg8833Ile
XM_011535643.1:c.26348G>T (SYNE1) XP_011533945.1:p.Arg8783Ile
XM_011535644.1:c.24788G>T (SYNE1) XP_011533946.1:p.Arg8263Ile
XM_011535645.1:c.24281G>T (SYNE1) XP_011533947.1:p.Arg8094Ile
XM_011535647.1:c.19748G>T (SYNE1) XP_011533949.1:p.Arg6583Ile
NM_001328100.1:c.851-2802C>A (ESR1) NP_001315029.1:n.851-2802C>A
NM_001347701.1:c.*177G>T (SYNE1) NP_001334630.1:n.*177G>T
NM_001347702.1:c.2900G>T (SYNE1) NP_001334631.1:p.Arg967Ile
XM_006715408.2:c.26501G>T (SYNE1) XP_006715471.1:p.Arg8834Ile
XM_006715410.2:c.26471G>T (SYNE1) XP_006715473.1:p.Arg8824Ile
XM_006715412.2:c.26456G>T (SYNE1) XP_006715475.1:p.Arg8819Ile
XM_006715413.2:c.26444G>T (SYNE1) XP_006715476.1:p.Arg8815Ile
XM_006715415.2:c.26402G>T (SYNE1) XP_006715478.1:p.Arg8801Ile
XM_006715416.2:c.26387G>T (SYNE1) XP_006715479.1:p.Arg8796Ile
XM_006715417.2:c.26372G>T (SYNE1) XP_006715480.1:p.Arg8791Ile
XM_006715420.2:c.26360G>T (SYNE1) XP_006715483.1:p.Arg8787Ile
XM_006715421.2:c.26357G>T (SYNE1) XP_006715484.1:p.Arg8786Ile
XM_006715423.2:c.*177G>T (SYNE1) XP_006715486.1:n.*177G>T
XM_006715424.2:c.*177G>T (SYNE1) XP_006715487.1:n.*177G>T
XM_006715425.2:c.*177G>T (SYNE1) XP_006715488.1:n.*177G>T
XM_011535641.2:c.26510G>T (SYNE1) XP_011533943.1:p.Arg8837Ile
XM_011535642.2:c.26498G>T (SYNE1) XP_011533944.1:p.Arg8833Ile
XM_011535645.2:c.24281G>T (SYNE1) XP_011533947.1:p.Arg8094Ile
XM_017010608.1:c.26513G>T (SYNE1) XP_016866097.1:p.Arg8838Ile
XM_017010609.1:c.26513G>T (SYNE1) XP_016866098.1:p.Arg8838Ile
XM_017010610.1:c.26492G>T (SYNE1) XP_016866099.1:p.Arg8831Ile
XM_017010611.2:c.26486G>T (SYNE1) XP_016866100.1:p.Arg8829Ile
XM_017010612.1:c.26435G>T (SYNE1) XP_016866101.1:p.Arg8812Ile
XM_017010613.1:c.26399G>T (SYNE1) XP_016866102.1:p.Arg8800Ile
XM_017010614.1:c.26357G>T (SYNE1) XP_016866103.1:p.Arg8786Ile
XM_017010615.1:c.26246G>T (SYNE1) XP_016866104.1:p.Arg8749Ile
XM_017010616.1:c.*177G>T (SYNE1) XP_016866105.1:n.*177G>T
XM_017010617.1:c.*177G>T (SYNE1) XP_016866106.1:n.*177G>T
XM_017010618.1:c.*177G>T (SYNE1) XP_016866107.1:n.*177G>T
XM_017010619.1:c.24788G>T (SYNE1) XP_016866108.1:p.Arg8263Ile
NM_182961.4:c.26366G>T (SYNE1) MANE Select NP_892006.3:p.Arg8789Ile
NM_001328100.2:c.851-2802C>A (ESR1) NP_001315029.1:n.851-2802C>A
NM_001347701.2:c.*177G>T (SYNE1) NP_001334630.1:n.*177G>T
NM_001347702.2:c.2900G>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Arg967Ile
NM_033071.5:c.26222G>T (SYNE1) NP_149062.2:p.Arg8741Ile