Canonical Allele Identifier: CA366088493

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122469C>G , CM000668.2:g.152122469C>G GRCh38
NC_000006.11:g.152443604C>G , CM000668.1:g.152443604C>G GRCh37
NC_000006.10:g.152485297C>G NCBI36
NG_012855.1:g.519931G>C
NG_008493.2:g.470779C>G
NG_012855.2:g.519931G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2895G>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Met965Ile
ENST00000367255.10:c.26361G>C (SYNE1) MANE Select ENSP00000356224.5:p.Met8787Ile
ENST00000423061.6:c.26217G>C (SYNE1) ENSP00000396024.1:p.Met8739Ile
ENST00000672154.1:c.1704G>C (SYNE1)
ENST00000672169.1:c.2079G>C (SYNE1)
ENST00000673173.1:c.1946G>C (SYNE1)
ENST00000673451.1:c.2211G>C (SYNE1) ENSP00000500189.1:n.2211G>C
ENST00000341594.9:c.25146G>C (SYNE1) ENSP00000341887.6:p.Met8382Ile
ENST00000347037.9:n.3109G>C (SYNE1)
ENST00000354674.4:c.2895G>C (SYNE1) ENSP00000346701.4:p.Met965Ile
ENST00000367251.7:c.5137G>C (SYNE1) ENSP00000356220.3:n.5137G>C
ENST00000367255.9:c.26361G>C (SYNE1) ENSP00000356224.5:p.Met8787Ile
ENST00000367256.9:n.10053G>C (SYNE1)
ENST00000367257.8:c.4240G>C (SYNE1) ENSP00000356226.4:n.4240G>C
ENST00000409694.6:n.9945G>C (SYNE1)
ENST00000423061.5:c.26217G>C (SYNE1) ENSP00000396024.1:p.Met8739Ile
ENST00000427531.6:c.851-2797C>G (ESR1) ENSP00000394721.2:n.851-2797C>G
ENST00000460912.6:n.2975G>C (SYNE1)
ENST00000478916.5:n.6998G>C (SYNE1)
ENST00000539504.5:c.2826G>C (SYNE1) ENSP00000441052.1:p.Met942Ile
NM_033071.3:c.26217G>C (SYNE1) NP_149062.1:p.Met8739Ile
NM_182961.3:c.26361G>C (SYNE1) NP_892006.3:p.Met8787Ile
XM_006715407.1:c.26508G>C (SYNE1) XP_006715470.1:p.Met8836Ile
XM_006715408.1:c.26496G>C (SYNE1) XP_006715471.1:p.Met8832Ile
XM_006715409.1:c.26487G>C (SYNE1) XP_006715472.1:p.Met8829Ile
XM_006715410.1:c.26466G>C (SYNE1) XP_006715473.1:p.Met8822Ile
XM_006715411.1:c.26457G>C (SYNE1) XP_006715474.1:p.Met8819Ile
XM_006715412.1:c.26451G>C (SYNE1) XP_006715475.1:p.Met8817Ile
XM_006715413.1:c.26439G>C (SYNE1) XP_006715476.1:p.Met8813Ile
XM_006715414.1:c.26436G>C (SYNE1) XP_006715477.1:p.Met8812Ile
XM_006715415.1:c.26397G>C (SYNE1) XP_006715478.1:p.Met8799Ile
XM_006715416.1:c.26382G>C (SYNE1) XP_006715479.1:p.Met8794Ile
XM_006715417.1:c.26367G>C (SYNE1) XP_006715480.1:p.Met8789Ile
XM_006715420.1:c.26355G>C (SYNE1) XP_006715483.1:p.Met8785Ile
XM_006715421.1:c.26352G>C (SYNE1) XP_006715484.1:p.Met8784Ile
XM_006715422.1:c.26349G>C (SYNE1) XP_006715485.1:p.Met8783Ile
XM_006715423.1:c.*172G>C (SYNE1) XP_006715486.1:n.*172G>C
XM_006715424.1:c.*172G>C (SYNE1) XP_006715487.1:n.*172G>C
XM_006715425.1:c.*172G>C (SYNE1) XP_006715488.1:n.*172G>C
XM_011535641.1:c.26505G>C (SYNE1) XP_011533943.1:p.Met8835Ile
XM_011535642.1:c.26493G>C (SYNE1) XP_011533944.1:p.Met8831Ile
XM_011535643.1:c.26343G>C (SYNE1) XP_011533945.1:p.Met8781Ile
XM_011535644.1:c.24783G>C (SYNE1) XP_011533946.1:p.Met8261Ile
XM_011535645.1:c.24276G>C (SYNE1) XP_011533947.1:p.Met8092Ile
XM_011535647.1:c.19743G>C (SYNE1) XP_011533949.1:p.Met6581Ile
NM_001328100.1:c.851-2797C>G (ESR1) NP_001315029.1:n.851-2797C>G
NM_001347701.1:c.*172G>C (SYNE1) NP_001334630.1:n.*172G>C
NM_001347702.1:c.2895G>C (SYNE1) NP_001334631.1:p.Met965Ile
XM_006715408.2:c.26496G>C (SYNE1) XP_006715471.1:p.Met8832Ile
XM_006715410.2:c.26466G>C (SYNE1) XP_006715473.1:p.Met8822Ile
XM_006715412.2:c.26451G>C (SYNE1) XP_006715475.1:p.Met8817Ile
XM_006715413.2:c.26439G>C (SYNE1) XP_006715476.1:p.Met8813Ile
XM_006715415.2:c.26397G>C (SYNE1) XP_006715478.1:p.Met8799Ile
XM_006715416.2:c.26382G>C (SYNE1) XP_006715479.1:p.Met8794Ile
XM_006715417.2:c.26367G>C (SYNE1) XP_006715480.1:p.Met8789Ile
XM_006715420.2:c.26355G>C (SYNE1) XP_006715483.1:p.Met8785Ile
XM_006715421.2:c.26352G>C (SYNE1) XP_006715484.1:p.Met8784Ile
XM_006715423.2:c.*172G>C (SYNE1) XP_006715486.1:n.*172G>C
XM_006715424.2:c.*172G>C (SYNE1) XP_006715487.1:n.*172G>C
XM_006715425.2:c.*172G>C (SYNE1) XP_006715488.1:n.*172G>C
XM_011535641.2:c.26505G>C (SYNE1) XP_011533943.1:p.Met8835Ile
XM_011535642.2:c.26493G>C (SYNE1) XP_011533944.1:p.Met8831Ile
XM_011535645.2:c.24276G>C (SYNE1) XP_011533947.1:p.Met8092Ile
XM_017010608.1:c.26508G>C (SYNE1) XP_016866097.1:p.Met8836Ile
XM_017010609.1:c.26508G>C (SYNE1) XP_016866098.1:p.Met8836Ile
XM_017010610.1:c.26487G>C (SYNE1) XP_016866099.1:p.Met8829Ile
XM_017010611.2:c.26481G>C (SYNE1) XP_016866100.1:p.Met8827Ile
XM_017010612.1:c.26430G>C (SYNE1) XP_016866101.1:p.Met8810Ile
XM_017010613.1:c.26394G>C (SYNE1) XP_016866102.1:p.Met8798Ile
XM_017010614.1:c.26352G>C (SYNE1) XP_016866103.1:p.Met8784Ile
XM_017010615.1:c.26241G>C (SYNE1) XP_016866104.1:p.Met8747Ile
XM_017010616.1:c.*172G>C (SYNE1) XP_016866105.1:n.*172G>C
XM_017010617.1:c.*172G>C (SYNE1) XP_016866106.1:n.*172G>C
XM_017010618.1:c.*172G>C (SYNE1) XP_016866107.1:n.*172G>C
XM_017010619.1:c.24783G>C (SYNE1) XP_016866108.1:p.Met8261Ile
NM_182961.4:c.26361G>C (SYNE1) MANE Select NP_892006.3:p.Met8787Ile
NM_001328100.2:c.851-2797C>G (ESR1) NP_001315029.1:n.851-2797C>G
NM_001347701.2:c.*172G>C (SYNE1) NP_001334630.1:n.*172G>C
NM_001347702.2:c.2895G>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Met965Ile
NM_033071.5:c.26217G>C (SYNE1) NP_149062.2:p.Met8739Ile