Canonical Allele Identifier: CA366088415

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122440A>G , CM000668.2:g.152122440A>G GRCh38
NC_000006.11:g.152443575A>G , CM000668.1:g.152443575A>G GRCh37
NC_000006.10:g.152485268A>G NCBI36
NG_012855.1:g.519960T>C
NG_008493.2:g.470750A>G
NG_012855.2:g.519960T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2924T>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Leu975Pro
ENST00000367255.10:c.26390T>C (SYNE1) MANE Select ENSP00000356224.5:p.Leu8797Pro
ENST00000423061.6:c.26246T>C (SYNE1) ENSP00000396024.1:p.Leu8749Pro
ENST00000672154.1:c.1733T>C (SYNE1)
ENST00000672169.1:c.2108T>C (SYNE1)
ENST00000673173.1:c.1975T>C (SYNE1)
ENST00000673451.1:c.2240T>C (SYNE1) ENSP00000500189.1:n.2240T>C
ENST00000341594.9:c.25175T>C (SYNE1) ENSP00000341887.6:p.Leu8392Pro
ENST00000347037.9:n.3138T>C (SYNE1)
ENST00000354674.4:c.2924T>C (SYNE1) ENSP00000346701.4:p.Leu975Pro
ENST00000367251.7:c.5166T>C (SYNE1) ENSP00000356220.3:n.5166T>C
ENST00000367255.9:c.26390T>C (SYNE1) ENSP00000356224.5:p.Leu8797Pro
ENST00000367256.9:n.10082T>C (SYNE1)
ENST00000367257.8:c.4269T>C (SYNE1) ENSP00000356226.4:n.4269T>C
ENST00000409694.6:n.9974T>C (SYNE1)
ENST00000423061.5:c.26246T>C (SYNE1) ENSP00000396024.1:p.Leu8749Pro
ENST00000427531.6:c.851-2826A>G (ESR1) ENSP00000394721.2:n.851-2826A>G
ENST00000460912.6:n.3004T>C (SYNE1)
ENST00000478916.5:n.7027T>C (SYNE1)
ENST00000539504.5:c.2855T>C (SYNE1) ENSP00000441052.1:p.Leu952Pro
NM_033071.3:c.26246T>C (SYNE1) NP_149062.1:p.Leu8749Pro
NM_182961.3:c.26390T>C (SYNE1) NP_892006.3:p.Leu8797Pro
XM_006715407.1:c.26537T>C (SYNE1) XP_006715470.1:p.Leu8846Pro
XM_006715408.1:c.26525T>C (SYNE1) XP_006715471.1:p.Leu8842Pro
XM_006715409.1:c.26516T>C (SYNE1) XP_006715472.1:p.Leu8839Pro
XM_006715410.1:c.26495T>C (SYNE1) XP_006715473.1:p.Leu8832Pro
XM_006715411.1:c.26486T>C (SYNE1) XP_006715474.1:p.Leu8829Pro
XM_006715412.1:c.26480T>C (SYNE1) XP_006715475.1:p.Leu8827Pro
XM_006715413.1:c.26468T>C (SYNE1) XP_006715476.1:p.Leu8823Pro
XM_006715414.1:c.26465T>C (SYNE1) XP_006715477.1:p.Leu8822Pro
XM_006715415.1:c.26426T>C (SYNE1) XP_006715478.1:p.Leu8809Pro
XM_006715416.1:c.26411T>C (SYNE1) XP_006715479.1:p.Leu8804Pro
XM_006715417.1:c.26396T>C (SYNE1) XP_006715480.1:p.Leu8799Pro
XM_006715420.1:c.26384T>C (SYNE1) XP_006715483.1:p.Leu8795Pro
XM_006715421.1:c.26381T>C (SYNE1) XP_006715484.1:p.Leu8794Pro
XM_006715422.1:c.26378T>C (SYNE1) XP_006715485.1:p.Leu8793Pro
XM_006715423.1:c.*201T>C (SYNE1) XP_006715486.1:n.*201T>C
XM_006715424.1:c.*201T>C (SYNE1) XP_006715487.1:n.*201T>C
XM_006715425.1:c.*201T>C (SYNE1) XP_006715488.1:n.*201T>C
XM_011535641.1:c.26534T>C (SYNE1) XP_011533943.1:p.Leu8845Pro
XM_011535642.1:c.26522T>C (SYNE1) XP_011533944.1:p.Leu8841Pro
XM_011535643.1:c.26372T>C (SYNE1) XP_011533945.1:p.Leu8791Pro
XM_011535644.1:c.24812T>C (SYNE1) XP_011533946.1:p.Leu8271Pro
XM_011535645.1:c.24305T>C (SYNE1) XP_011533947.1:p.Leu8102Pro
XM_011535647.1:c.19772T>C (SYNE1) XP_011533949.1:p.Leu6591Pro
NM_001328100.1:c.851-2826A>G (ESR1) NP_001315029.1:n.851-2826A>G
NM_001347701.1:c.*201T>C (SYNE1) NP_001334630.1:n.*201T>C
NM_001347702.1:c.2924T>C (SYNE1) NP_001334631.1:p.Leu975Pro
XM_006715408.2:c.26525T>C (SYNE1) XP_006715471.1:p.Leu8842Pro
XM_006715410.2:c.26495T>C (SYNE1) XP_006715473.1:p.Leu8832Pro
XM_006715412.2:c.26480T>C (SYNE1) XP_006715475.1:p.Leu8827Pro
XM_006715413.2:c.26468T>C (SYNE1) XP_006715476.1:p.Leu8823Pro
XM_006715415.2:c.26426T>C (SYNE1) XP_006715478.1:p.Leu8809Pro
XM_006715416.2:c.26411T>C (SYNE1) XP_006715479.1:p.Leu8804Pro
XM_006715417.2:c.26396T>C (SYNE1) XP_006715480.1:p.Leu8799Pro
XM_006715420.2:c.26384T>C (SYNE1) XP_006715483.1:p.Leu8795Pro
XM_006715421.2:c.26381T>C (SYNE1) XP_006715484.1:p.Leu8794Pro
XM_006715423.2:c.*201T>C (SYNE1) XP_006715486.1:n.*201T>C
XM_006715424.2:c.*201T>C (SYNE1) XP_006715487.1:n.*201T>C
XM_006715425.2:c.*201T>C (SYNE1) XP_006715488.1:n.*201T>C
XM_011535641.2:c.26534T>C (SYNE1) XP_011533943.1:p.Leu8845Pro
XM_011535642.2:c.26522T>C (SYNE1) XP_011533944.1:p.Leu8841Pro
XM_011535645.2:c.24305T>C (SYNE1) XP_011533947.1:p.Leu8102Pro
XM_017010608.1:c.26537T>C (SYNE1) XP_016866097.1:p.Leu8846Pro
XM_017010609.1:c.26537T>C (SYNE1) XP_016866098.1:p.Leu8846Pro
XM_017010610.1:c.26516T>C (SYNE1) XP_016866099.1:p.Leu8839Pro
XM_017010611.2:c.26510T>C (SYNE1) XP_016866100.1:p.Leu8837Pro
XM_017010612.1:c.26459T>C (SYNE1) XP_016866101.1:p.Leu8820Pro
XM_017010613.1:c.26423T>C (SYNE1) XP_016866102.1:p.Leu8808Pro
XM_017010614.1:c.26381T>C (SYNE1) XP_016866103.1:p.Leu8794Pro
XM_017010615.1:c.26270T>C (SYNE1) XP_016866104.1:p.Leu8757Pro
XM_017010616.1:c.*201T>C (SYNE1) XP_016866105.1:n.*201T>C
XM_017010617.1:c.*201T>C (SYNE1) XP_016866106.1:n.*201T>C
XM_017010618.1:c.*201T>C (SYNE1) XP_016866107.1:n.*201T>C
XM_017010619.1:c.24812T>C (SYNE1) XP_016866108.1:p.Leu8271Pro
NM_182961.4:c.26390T>C (SYNE1) MANE Select NP_892006.3:p.Leu8797Pro
NM_001328100.2:c.851-2826A>G (ESR1) NP_001315029.1:n.851-2826A>G
NM_001347701.2:c.*201T>C (SYNE1) NP_001334630.1:n.*201T>C
NM_001347702.2:c.2924T>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Leu975Pro
NM_033071.5:c.26246T>C (SYNE1) NP_149062.2:p.Leu8749Pro