Canonical Allele Identifier: CA366088628

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122497T>A , CM000668.2:g.152122497T>A GRCh38
NC_000006.11:g.152443632T>A , CM000668.1:g.152443632T>A GRCh37
NC_000006.10:g.152485325T>A NCBI36
NG_012855.1:g.519903A>T
NG_008493.2:g.470807T>A
NG_012855.2:g.519903A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2867A>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Asn956Ile
ENST00000367255.10:c.26333A>T (SYNE1) MANE Select ENSP00000356224.5:p.Asn8778Ile
ENST00000423061.6:c.26189A>T (SYNE1) ENSP00000396024.1:p.Asn8730Ile
ENST00000672154.1:c.1676A>T (SYNE1)
ENST00000672169.1:c.2051A>T (SYNE1)
ENST00000673173.1:c.1918A>T (SYNE1)
ENST00000673451.1:c.2183A>T (SYNE1) ENSP00000500189.1:n.2183A>T
ENST00000341594.9:c.25118A>T (SYNE1) ENSP00000341887.6:p.Asn8373Ile
ENST00000347037.9:n.3081A>T (SYNE1)
ENST00000354674.4:c.2867A>T (SYNE1) ENSP00000346701.4:p.Asn956Ile
ENST00000367251.7:c.5109A>T (SYNE1) ENSP00000356220.3:n.5109A>T
ENST00000367255.9:c.26333A>T (SYNE1) ENSP00000356224.5:p.Asn8778Ile
ENST00000367256.9:n.10025A>T (SYNE1)
ENST00000367257.8:c.4212A>T (SYNE1) ENSP00000356226.4:n.4212A>T
ENST00000409694.6:n.9917A>T (SYNE1)
ENST00000423061.5:c.26189A>T (SYNE1) ENSP00000396024.1:p.Asn8730Ile
ENST00000427531.6:c.851-2769T>A (ESR1) ENSP00000394721.2:n.851-2769T>A
ENST00000460912.6:n.2947A>T (SYNE1)
ENST00000478916.5:n.6970A>T (SYNE1)
ENST00000539504.5:c.2798A>T (SYNE1) ENSP00000441052.1:p.Asn933Ile
NM_033071.3:c.26189A>T (SYNE1) NP_149062.1:p.Asn8730Ile
NM_182961.3:c.26333A>T (SYNE1) NP_892006.3:p.Asn8778Ile
XM_006715407.1:c.26480A>T (SYNE1) XP_006715470.1:p.Asn8827Ile
XM_006715408.1:c.26468A>T (SYNE1) XP_006715471.1:p.Asn8823Ile
XM_006715409.1:c.26459A>T (SYNE1) XP_006715472.1:p.Asn8820Ile
XM_006715410.1:c.26438A>T (SYNE1) XP_006715473.1:p.Asn8813Ile
XM_006715411.1:c.26429A>T (SYNE1) XP_006715474.1:p.Asn8810Ile
XM_006715412.1:c.26423A>T (SYNE1) XP_006715475.1:p.Asn8808Ile
XM_006715413.1:c.26411A>T (SYNE1) XP_006715476.1:p.Asn8804Ile
XM_006715414.1:c.26408A>T (SYNE1) XP_006715477.1:p.Asn8803Ile
XM_006715415.1:c.26369A>T (SYNE1) XP_006715478.1:p.Asn8790Ile
XM_006715416.1:c.26354A>T (SYNE1) XP_006715479.1:p.Asn8785Ile
XM_006715417.1:c.26339A>T (SYNE1) XP_006715480.1:p.Asn8780Ile
XM_006715420.1:c.26327A>T (SYNE1) XP_006715483.1:p.Asn8776Ile
XM_006715421.1:c.26324A>T (SYNE1) XP_006715484.1:p.Asn8775Ile
XM_006715422.1:c.26321A>T (SYNE1) XP_006715485.1:p.Asn8774Ile
XM_006715423.1:c.*144A>T (SYNE1) XP_006715486.1:n.*144A>T
XM_006715424.1:c.*144A>T (SYNE1) XP_006715487.1:n.*144A>T
XM_006715425.1:c.*144A>T (SYNE1) XP_006715488.1:n.*144A>T
XM_011535641.1:c.26477A>T (SYNE1) XP_011533943.1:p.Asn8826Ile
XM_011535642.1:c.26465A>T (SYNE1) XP_011533944.1:p.Asn8822Ile
XM_011535643.1:c.26315A>T (SYNE1) XP_011533945.1:p.Asn8772Ile
XM_011535644.1:c.24755A>T (SYNE1) XP_011533946.1:p.Asn8252Ile
XM_011535645.1:c.24248A>T (SYNE1) XP_011533947.1:p.Asn8083Ile
XM_011535647.1:c.19715A>T (SYNE1) XP_011533949.1:p.Asn6572Ile
NM_001328100.1:c.851-2769T>A (ESR1) NP_001315029.1:n.851-2769T>A
NM_001347701.1:c.*144A>T (SYNE1) NP_001334630.1:n.*144A>T
NM_001347702.1:c.2867A>T (SYNE1) NP_001334631.1:p.Asn956Ile
XM_006715408.2:c.26468A>T (SYNE1) XP_006715471.1:p.Asn8823Ile
XM_006715410.2:c.26438A>T (SYNE1) XP_006715473.1:p.Asn8813Ile
XM_006715412.2:c.26423A>T (SYNE1) XP_006715475.1:p.Asn8808Ile
XM_006715413.2:c.26411A>T (SYNE1) XP_006715476.1:p.Asn8804Ile
XM_006715415.2:c.26369A>T (SYNE1) XP_006715478.1:p.Asn8790Ile
XM_006715416.2:c.26354A>T (SYNE1) XP_006715479.1:p.Asn8785Ile
XM_006715417.2:c.26339A>T (SYNE1) XP_006715480.1:p.Asn8780Ile
XM_006715420.2:c.26327A>T (SYNE1) XP_006715483.1:p.Asn8776Ile
XM_006715421.2:c.26324A>T (SYNE1) XP_006715484.1:p.Asn8775Ile
XM_006715423.2:c.*144A>T (SYNE1) XP_006715486.1:n.*144A>T
XM_006715424.2:c.*144A>T (SYNE1) XP_006715487.1:n.*144A>T
XM_006715425.2:c.*144A>T (SYNE1) XP_006715488.1:n.*144A>T
XM_011535641.2:c.26477A>T (SYNE1) XP_011533943.1:p.Asn8826Ile
XM_011535642.2:c.26465A>T (SYNE1) XP_011533944.1:p.Asn8822Ile
XM_011535645.2:c.24248A>T (SYNE1) XP_011533947.1:p.Asn8083Ile
XM_017010608.1:c.26480A>T (SYNE1) XP_016866097.1:p.Asn8827Ile
XM_017010609.1:c.26480A>T (SYNE1) XP_016866098.1:p.Asn8827Ile
XM_017010610.1:c.26459A>T (SYNE1) XP_016866099.1:p.Asn8820Ile
XM_017010611.2:c.26453A>T (SYNE1) XP_016866100.1:p.Asn8818Ile
XM_017010612.1:c.26402A>T (SYNE1) XP_016866101.1:p.Asn8801Ile
XM_017010613.1:c.26366A>T (SYNE1) XP_016866102.1:p.Asn8789Ile
XM_017010614.1:c.26324A>T (SYNE1) XP_016866103.1:p.Asn8775Ile
XM_017010615.1:c.26213A>T (SYNE1) XP_016866104.1:p.Asn8738Ile
XM_017010616.1:c.*144A>T (SYNE1) XP_016866105.1:n.*144A>T
XM_017010617.1:c.*144A>T (SYNE1) XP_016866106.1:n.*144A>T
XM_017010618.1:c.*144A>T (SYNE1) XP_016866107.1:n.*144A>T
XM_017010619.1:c.24755A>T (SYNE1) XP_016866108.1:p.Asn8252Ile
NM_182961.4:c.26333A>T (SYNE1) MANE Select NP_892006.3:p.Asn8778Ile
NM_001328100.2:c.851-2769T>A (ESR1) NP_001315029.1:n.851-2769T>A
NM_001347701.2:c.*144A>T (SYNE1) NP_001334630.1:n.*144A>T
NM_001347702.2:c.2867A>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Asn956Ile
NM_033071.5:c.26189A>T (SYNE1) NP_149062.2:p.Asn8730Ile