Canonical Allele Identifier: CA366088446

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122456T>C , CM000668.2:g.152122456T>C GRCh38
NC_000006.11:g.152443591T>C , CM000668.1:g.152443591T>C GRCh37
NC_000006.10:g.152485284T>C NCBI36
NG_012855.1:g.519944A>G
NG_008493.2:g.470766T>C
NG_012855.2:g.519944A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2908A>G (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Asn970Asp
ENST00000367255.10:c.26374A>G (SYNE1) MANE Select ENSP00000356224.5:p.Asn8792Asp
ENST00000423061.6:c.26230A>G (SYNE1) ENSP00000396024.1:p.Asn8744Asp
ENST00000672154.1:c.1717A>G (SYNE1)
ENST00000672169.1:c.2092A>G (SYNE1)
ENST00000673173.1:c.1959A>G (SYNE1)
ENST00000673451.1:c.2224A>G (SYNE1) ENSP00000500189.1:n.2224A>G
ENST00000341594.9:c.25159A>G (SYNE1) ENSP00000341887.6:p.Asn8387Asp
ENST00000347037.9:n.3122A>G (SYNE1)
ENST00000354674.4:c.2908A>G (SYNE1) ENSP00000346701.4:p.Asn970Asp
ENST00000367251.7:c.5150A>G (SYNE1) ENSP00000356220.3:n.5150A>G
ENST00000367255.9:c.26374A>G (SYNE1) ENSP00000356224.5:p.Asn8792Asp
ENST00000367256.9:n.10066A>G (SYNE1)
ENST00000367257.8:c.4253A>G (SYNE1) ENSP00000356226.4:n.4253A>G
ENST00000409694.6:n.9958A>G (SYNE1)
ENST00000423061.5:c.26230A>G (SYNE1) ENSP00000396024.1:p.Asn8744Asp
ENST00000427531.6:c.851-2810T>C (ESR1) ENSP00000394721.2:n.851-2810T>C
ENST00000460912.6:n.2988A>G (SYNE1)
ENST00000478916.5:n.7011A>G (SYNE1)
ENST00000539504.5:c.2839A>G (SYNE1) ENSP00000441052.1:p.Asn947Asp
NM_033071.3:c.26230A>G (SYNE1) NP_149062.1:p.Asn8744Asp
NM_182961.3:c.26374A>G (SYNE1) NP_892006.3:p.Asn8792Asp
XM_006715407.1:c.26521A>G (SYNE1) XP_006715470.1:p.Asn8841Asp
XM_006715408.1:c.26509A>G (SYNE1) XP_006715471.1:p.Asn8837Asp
XM_006715409.1:c.26500A>G (SYNE1) XP_006715472.1:p.Asn8834Asp
XM_006715410.1:c.26479A>G (SYNE1) XP_006715473.1:p.Asn8827Asp
XM_006715411.1:c.26470A>G (SYNE1) XP_006715474.1:p.Asn8824Asp
XM_006715412.1:c.26464A>G (SYNE1) XP_006715475.1:p.Asn8822Asp
XM_006715413.1:c.26452A>G (SYNE1) XP_006715476.1:p.Asn8818Asp
XM_006715414.1:c.26449A>G (SYNE1) XP_006715477.1:p.Asn8817Asp
XM_006715415.1:c.26410A>G (SYNE1) XP_006715478.1:p.Asn8804Asp
XM_006715416.1:c.26395A>G (SYNE1) XP_006715479.1:p.Asn8799Asp
XM_006715417.1:c.26380A>G (SYNE1) XP_006715480.1:p.Asn8794Asp
XM_006715420.1:c.26368A>G (SYNE1) XP_006715483.1:p.Asn8790Asp
XM_006715421.1:c.26365A>G (SYNE1) XP_006715484.1:p.Asn8789Asp
XM_006715422.1:c.26362A>G (SYNE1) XP_006715485.1:p.Asn8788Asp
XM_006715423.1:c.*185A>G (SYNE1) XP_006715486.1:n.*185A>G
XM_006715424.1:c.*185A>G (SYNE1) XP_006715487.1:n.*185A>G
XM_006715425.1:c.*185A>G (SYNE1) XP_006715488.1:n.*185A>G
XM_011535641.1:c.26518A>G (SYNE1) XP_011533943.1:p.Asn8840Asp
XM_011535642.1:c.26506A>G (SYNE1) XP_011533944.1:p.Asn8836Asp
XM_011535643.1:c.26356A>G (SYNE1) XP_011533945.1:p.Asn8786Asp
XM_011535644.1:c.24796A>G (SYNE1) XP_011533946.1:p.Asn8266Asp
XM_011535645.1:c.24289A>G (SYNE1) XP_011533947.1:p.Asn8097Asp
XM_011535647.1:c.19756A>G (SYNE1) XP_011533949.1:p.Asn6586Asp
NM_001328100.1:c.851-2810T>C (ESR1) NP_001315029.1:n.851-2810T>C
NM_001347701.1:c.*185A>G (SYNE1) NP_001334630.1:n.*185A>G
NM_001347702.1:c.2908A>G (SYNE1) NP_001334631.1:p.Asn970Asp
XM_006715408.2:c.26509A>G (SYNE1) XP_006715471.1:p.Asn8837Asp
XM_006715410.2:c.26479A>G (SYNE1) XP_006715473.1:p.Asn8827Asp
XM_006715412.2:c.26464A>G (SYNE1) XP_006715475.1:p.Asn8822Asp
XM_006715413.2:c.26452A>G (SYNE1) XP_006715476.1:p.Asn8818Asp
XM_006715415.2:c.26410A>G (SYNE1) XP_006715478.1:p.Asn8804Asp
XM_006715416.2:c.26395A>G (SYNE1) XP_006715479.1:p.Asn8799Asp
XM_006715417.2:c.26380A>G (SYNE1) XP_006715480.1:p.Asn8794Asp
XM_006715420.2:c.26368A>G (SYNE1) XP_006715483.1:p.Asn8790Asp
XM_006715421.2:c.26365A>G (SYNE1) XP_006715484.1:p.Asn8789Asp
XM_006715423.2:c.*185A>G (SYNE1) XP_006715486.1:n.*185A>G
XM_006715424.2:c.*185A>G (SYNE1) XP_006715487.1:n.*185A>G
XM_006715425.2:c.*185A>G (SYNE1) XP_006715488.1:n.*185A>G
XM_011535641.2:c.26518A>G (SYNE1) XP_011533943.1:p.Asn8840Asp
XM_011535642.2:c.26506A>G (SYNE1) XP_011533944.1:p.Asn8836Asp
XM_011535645.2:c.24289A>G (SYNE1) XP_011533947.1:p.Asn8097Asp
XM_017010608.1:c.26521A>G (SYNE1) XP_016866097.1:p.Asn8841Asp
XM_017010609.1:c.26521A>G (SYNE1) XP_016866098.1:p.Asn8841Asp
XM_017010610.1:c.26500A>G (SYNE1) XP_016866099.1:p.Asn8834Asp
XM_017010611.2:c.26494A>G (SYNE1) XP_016866100.1:p.Asn8832Asp
XM_017010612.1:c.26443A>G (SYNE1) XP_016866101.1:p.Asn8815Asp
XM_017010613.1:c.26407A>G (SYNE1) XP_016866102.1:p.Asn8803Asp
XM_017010614.1:c.26365A>G (SYNE1) XP_016866103.1:p.Asn8789Asp
XM_017010615.1:c.26254A>G (SYNE1) XP_016866104.1:p.Asn8752Asp
XM_017010616.1:c.*185A>G (SYNE1) XP_016866105.1:n.*185A>G
XM_017010617.1:c.*185A>G (SYNE1) XP_016866106.1:n.*185A>G
XM_017010618.1:c.*185A>G (SYNE1) XP_016866107.1:n.*185A>G
XM_017010619.1:c.24796A>G (SYNE1) XP_016866108.1:p.Asn8266Asp
NM_182961.4:c.26374A>G (SYNE1) MANE Select NP_892006.3:p.Asn8792Asp
NM_001328100.2:c.851-2810T>C (ESR1) NP_001315029.1:n.851-2810T>C
NM_001347701.2:c.*185A>G (SYNE1) NP_001334630.1:n.*185A>G
NM_001347702.2:c.2908A>G (SYNE1) MANE Plus Clinical NP_001334631.1:p.Asn970Asp
NM_033071.5:c.26230A>G (SYNE1) NP_149062.2:p.Asn8744Asp