Canonical Allele Identifier: CA366088513

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122471T>G , CM000668.2:g.152122471T>G GRCh38
NC_000006.11:g.152443606T>G , CM000668.1:g.152443606T>G GRCh37
NC_000006.10:g.152485299T>G NCBI36
NG_012855.1:g.519929A>C
NG_008493.2:g.470781T>G
NG_012855.2:g.519929A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2893A>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Met965Leu
ENST00000367255.10:c.26359A>C (SYNE1) MANE Select ENSP00000356224.5:p.Met8787Leu
ENST00000423061.6:c.26215A>C (SYNE1) ENSP00000396024.1:p.Met8739Leu
ENST00000672154.1:c.1702A>C (SYNE1)
ENST00000672169.1:c.2077A>C (SYNE1)
ENST00000673173.1:c.1944A>C (SYNE1)
ENST00000673451.1:c.2209A>C (SYNE1) ENSP00000500189.1:n.2209A>C
ENST00000341594.9:c.25144A>C (SYNE1) ENSP00000341887.6:p.Met8382Leu
ENST00000347037.9:n.3107A>C (SYNE1)
ENST00000354674.4:c.2893A>C (SYNE1) ENSP00000346701.4:p.Met965Leu
ENST00000367251.7:c.5135A>C (SYNE1) ENSP00000356220.3:n.5135A>C
ENST00000367255.9:c.26359A>C (SYNE1) ENSP00000356224.5:p.Met8787Leu
ENST00000367256.9:n.10051A>C (SYNE1)
ENST00000367257.8:c.4238A>C (SYNE1) ENSP00000356226.4:n.4238A>C
ENST00000409694.6:n.9943A>C (SYNE1)
ENST00000423061.5:c.26215A>C (SYNE1) ENSP00000396024.1:p.Met8739Leu
ENST00000427531.6:c.851-2795T>G (ESR1) ENSP00000394721.2:n.851-2795T>G
ENST00000460912.6:n.2973A>C (SYNE1)
ENST00000478916.5:n.6996A>C (SYNE1)
ENST00000539504.5:c.2824A>C (SYNE1) ENSP00000441052.1:p.Met942Leu
NM_033071.3:c.26215A>C (SYNE1) NP_149062.1:p.Met8739Leu
NM_182961.3:c.26359A>C (SYNE1) NP_892006.3:p.Met8787Leu
XM_006715407.1:c.26506A>C (SYNE1) XP_006715470.1:p.Met8836Leu
XM_006715408.1:c.26494A>C (SYNE1) XP_006715471.1:p.Met8832Leu
XM_006715409.1:c.26485A>C (SYNE1) XP_006715472.1:p.Met8829Leu
XM_006715410.1:c.26464A>C (SYNE1) XP_006715473.1:p.Met8822Leu
XM_006715411.1:c.26455A>C (SYNE1) XP_006715474.1:p.Met8819Leu
XM_006715412.1:c.26449A>C (SYNE1) XP_006715475.1:p.Met8817Leu
XM_006715413.1:c.26437A>C (SYNE1) XP_006715476.1:p.Met8813Leu
XM_006715414.1:c.26434A>C (SYNE1) XP_006715477.1:p.Met8812Leu
XM_006715415.1:c.26395A>C (SYNE1) XP_006715478.1:p.Met8799Leu
XM_006715416.1:c.26380A>C (SYNE1) XP_006715479.1:p.Met8794Leu
XM_006715417.1:c.26365A>C (SYNE1) XP_006715480.1:p.Met8789Leu
XM_006715420.1:c.26353A>C (SYNE1) XP_006715483.1:p.Met8785Leu
XM_006715421.1:c.26350A>C (SYNE1) XP_006715484.1:p.Met8784Leu
XM_006715422.1:c.26347A>C (SYNE1) XP_006715485.1:p.Met8783Leu
XM_006715423.1:c.*170A>C (SYNE1) XP_006715486.1:n.*170A>C
XM_006715424.1:c.*170A>C (SYNE1) XP_006715487.1:n.*170A>C
XM_006715425.1:c.*170A>C (SYNE1) XP_006715488.1:n.*170A>C
XM_011535641.1:c.26503A>C (SYNE1) XP_011533943.1:p.Met8835Leu
XM_011535642.1:c.26491A>C (SYNE1) XP_011533944.1:p.Met8831Leu
XM_011535643.1:c.26341A>C (SYNE1) XP_011533945.1:p.Met8781Leu
XM_011535644.1:c.24781A>C (SYNE1) XP_011533946.1:p.Met8261Leu
XM_011535645.1:c.24274A>C (SYNE1) XP_011533947.1:p.Met8092Leu
XM_011535647.1:c.19741A>C (SYNE1) XP_011533949.1:p.Met6581Leu
NM_001328100.1:c.851-2795T>G (ESR1) NP_001315029.1:n.851-2795T>G
NM_001347701.1:c.*170A>C (SYNE1) NP_001334630.1:n.*170A>C
NM_001347702.1:c.2893A>C (SYNE1) NP_001334631.1:p.Met965Leu
XM_006715408.2:c.26494A>C (SYNE1) XP_006715471.1:p.Met8832Leu
XM_006715410.2:c.26464A>C (SYNE1) XP_006715473.1:p.Met8822Leu
XM_006715412.2:c.26449A>C (SYNE1) XP_006715475.1:p.Met8817Leu
XM_006715413.2:c.26437A>C (SYNE1) XP_006715476.1:p.Met8813Leu
XM_006715415.2:c.26395A>C (SYNE1) XP_006715478.1:p.Met8799Leu
XM_006715416.2:c.26380A>C (SYNE1) XP_006715479.1:p.Met8794Leu
XM_006715417.2:c.26365A>C (SYNE1) XP_006715480.1:p.Met8789Leu
XM_006715420.2:c.26353A>C (SYNE1) XP_006715483.1:p.Met8785Leu
XM_006715421.2:c.26350A>C (SYNE1) XP_006715484.1:p.Met8784Leu
XM_006715423.2:c.*170A>C (SYNE1) XP_006715486.1:n.*170A>C
XM_006715424.2:c.*170A>C (SYNE1) XP_006715487.1:n.*170A>C
XM_006715425.2:c.*170A>C (SYNE1) XP_006715488.1:n.*170A>C
XM_011535641.2:c.26503A>C (SYNE1) XP_011533943.1:p.Met8835Leu
XM_011535642.2:c.26491A>C (SYNE1) XP_011533944.1:p.Met8831Leu
XM_011535645.2:c.24274A>C (SYNE1) XP_011533947.1:p.Met8092Leu
XM_017010608.1:c.26506A>C (SYNE1) XP_016866097.1:p.Met8836Leu
XM_017010609.1:c.26506A>C (SYNE1) XP_016866098.1:p.Met8836Leu
XM_017010610.1:c.26485A>C (SYNE1) XP_016866099.1:p.Met8829Leu
XM_017010611.2:c.26479A>C (SYNE1) XP_016866100.1:p.Met8827Leu
XM_017010612.1:c.26428A>C (SYNE1) XP_016866101.1:p.Met8810Leu
XM_017010613.1:c.26392A>C (SYNE1) XP_016866102.1:p.Met8798Leu
XM_017010614.1:c.26350A>C (SYNE1) XP_016866103.1:p.Met8784Leu
XM_017010615.1:c.26239A>C (SYNE1) XP_016866104.1:p.Met8747Leu
XM_017010616.1:c.*170A>C (SYNE1) XP_016866105.1:n.*170A>C
XM_017010617.1:c.*170A>C (SYNE1) XP_016866106.1:n.*170A>C
XM_017010618.1:c.*170A>C (SYNE1) XP_016866107.1:n.*170A>C
XM_017010619.1:c.24781A>C (SYNE1) XP_016866108.1:p.Met8261Leu
NM_182961.4:c.26359A>C (SYNE1) MANE Select NP_892006.3:p.Met8787Leu
NM_001328100.2:c.851-2795T>G (ESR1) NP_001315029.1:n.851-2795T>G
NM_001347701.2:c.*170A>C (SYNE1) NP_001334630.1:n.*170A>C
NM_001347702.2:c.2893A>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Met965Leu
NM_033071.5:c.26215A>C (SYNE1) NP_149062.2:p.Met8739Leu