Canonical Allele Identifier: CA4052600
Community Standard Title: NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122594G>A , CM000668.2:g.152122594G>A GRCh38
NC_000006.11:g.152443729G>A , CM000668.1:g.152443729G>A GRCh37
NC_000006.10:g.152485422G>A NCBI36
NG_012855.1:g.519806C>T
NG_008493.2:g.470904G>A
NG_012855.2:g.519806C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.26236C>T (SYNE1) MANE Select NP_892006.3:p.Arg8746Ter
ENST00000367255.10:c.26236C>T (SYNE1) MANE Select ENSP00000356224.5:p.Arg8746Ter
NM_001347702.2:c.2770C>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Arg924Ter
ENST00000354674.5:c.2770C>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Arg924Ter
NM_001328100.1:c.851-2672G>A (ESR1) NP_001315029.1:n.851-2672G>A
NM_001328100.2:c.851-2672G>A (ESR1) NP_001315029.1:n.851-2672G>A
NM_001347701.1:c.*47C>T (SYNE1) NP_001334630.1:n.*47C>T
NM_001347701.2:c.*47C>T (SYNE1) NP_001334630.1:n.*47C>T
NM_001347702.1:c.2770C>T (SYNE1) NP_001334631.1:p.Arg924Ter
NM_033071.3:c.26092C>T (SYNE1) NP_149062.1:p.Arg8698Ter
NM_033071.5:c.26092C>T (SYNE1) NP_149062.2:p.Arg8698Ter
NM_182961.3:c.26236C>T (SYNE1) NP_892006.3:p.Arg8746Ter
ENST00000341594.9:c.25021C>T (SYNE1) ENSP00000341887.6:p.Arg8341Ter
ENST00000347037.9:n.2984C>T (SYNE1)
ENST00000354674.4:c.2770C>T (SYNE1) ENSP00000346701.4:p.Arg924Ter
ENST00000367251.7:c.5012C>T (SYNE1) ENSP00000356220.3:n.5012C>T
ENST00000367255.9:c.26236C>T (SYNE1) ENSP00000356224.5:p.Arg8746Ter
ENST00000367256.9:n.9928C>T (SYNE1)
ENST00000367257.8:c.4115C>T (SYNE1) ENSP00000356226.4:n.4115C>T
ENST00000409694.6:n.9820C>T (SYNE1)
ENST00000423061.5:c.26092C>T (SYNE1) ENSP00000396024.1:p.Arg8698Ter
ENST00000423061.6:c.26092C>T (SYNE1) ENSP00000396024.1:p.Arg8698Ter
ENST00000427531.6:c.851-2672G>A (ESR1) ENSP00000394721.2:n.851-2672G>A
ENST00000460912.6:n.2850C>T (SYNE1)
ENST00000478916.5:n.6873C>T (SYNE1)
ENST00000539504.5:c.2701C>T (SYNE1) ENSP00000441052.1:p.Arg901Ter
ENST00000672154.1:c.1579C>T (SYNE1)
ENST00000672169.1:c.1954C>T (SYNE1)
ENST00000673173.1:c.1821C>T (SYNE1)
ENST00000673451.1:c.2086C>T (SYNE1) ENSP00000500189.1:n.2086C>T
XM_006715407.1:c.26383C>T (SYNE1) XP_006715470.1:p.Arg8795Ter
XM_006715408.1:c.26371C>T (SYNE1) XP_006715471.1:p.Arg8791Ter
XM_006715408.2:c.26371C>T (SYNE1) XP_006715471.1:p.Arg8791Ter
XM_006715409.1:c.26362C>T (SYNE1) XP_006715472.1:p.Arg8788Ter
XM_006715410.1:c.26341C>T (SYNE1) XP_006715473.1:p.Arg8781Ter
XM_006715410.2:c.26341C>T (SYNE1) XP_006715473.1:p.Arg8781Ter
XM_006715411.1:c.26332C>T (SYNE1) XP_006715474.1:p.Arg8778Ter
XM_006715412.1:c.26326C>T (SYNE1) XP_006715475.1:p.Arg8776Ter
XM_006715412.2:c.26326C>T (SYNE1) XP_006715475.1:p.Arg8776Ter
XM_006715413.1:c.26314C>T (SYNE1) XP_006715476.1:p.Arg8772Ter
XM_006715413.2:c.26314C>T (SYNE1) XP_006715476.1:p.Arg8772Ter
XM_006715414.1:c.26311C>T (SYNE1) XP_006715477.1:p.Arg8771Ter
XM_006715415.1:c.26272C>T (SYNE1) XP_006715478.1:p.Arg8758Ter
XM_006715415.2:c.26272C>T (SYNE1) XP_006715478.1:p.Arg8758Ter
XM_006715416.1:c.26257C>T (SYNE1) XP_006715479.1:p.Arg8753Ter
XM_006715416.2:c.26257C>T (SYNE1) XP_006715479.1:p.Arg8753Ter
XM_006715417.1:c.26242C>T (SYNE1) XP_006715480.1:p.Arg8748Ter
XM_006715417.2:c.26242C>T (SYNE1) XP_006715480.1:p.Arg8748Ter
XM_006715420.1:c.26230C>T (SYNE1) XP_006715483.1:p.Arg8744Ter
XM_006715420.2:c.26230C>T (SYNE1) XP_006715483.1:p.Arg8744Ter
XM_006715421.1:c.26227C>T (SYNE1) XP_006715484.1:p.Arg8743Ter
XM_006715421.2:c.26227C>T (SYNE1) XP_006715484.1:p.Arg8743Ter
XM_006715422.1:c.26224C>T (SYNE1) XP_006715485.1:p.Arg8742Ter
XM_006715423.1:c.*47C>T (SYNE1) XP_006715486.1:n.*47C>T
XM_006715423.2:c.*47C>T (SYNE1) XP_006715486.1:n.*47C>T
XM_006715424.1:c.*47C>T (SYNE1) XP_006715487.1:n.*47C>T
XM_006715424.2:c.*47C>T (SYNE1) XP_006715487.1:n.*47C>T
XM_006715425.1:c.*47C>T (SYNE1) XP_006715488.1:n.*47C>T
XM_006715425.2:c.*47C>T (SYNE1) XP_006715488.1:n.*47C>T
XM_011535641.1:c.26380C>T (SYNE1) XP_011533943.1:p.Arg8794Ter
XM_011535641.2:c.26380C>T (SYNE1) XP_011533943.1:p.Arg8794Ter
XM_011535642.1:c.26368C>T (SYNE1) XP_011533944.1:p.Arg8790Ter
XM_011535642.2:c.26368C>T (SYNE1) XP_011533944.1:p.Arg8790Ter
XM_011535643.1:c.26218C>T (SYNE1) XP_011533945.1:p.Arg8740Ter
XM_011535644.1:c.24658C>T (SYNE1) XP_011533946.1:p.Arg8220Ter
XM_011535645.1:c.24151C>T (SYNE1) XP_011533947.1:p.Arg8051Ter
XM_011535645.2:c.24151C>T (SYNE1) XP_011533947.1:p.Arg8051Ter
XM_011535647.1:c.19618C>T (SYNE1) XP_011533949.1:p.Arg6540Ter
XM_017010608.1:c.26383C>T (SYNE1) XP_016866097.1:p.Arg8795Ter
XM_017010609.1:c.26383C>T (SYNE1) XP_016866098.1:p.Arg8795Ter
XM_017010610.1:c.26362C>T (SYNE1) XP_016866099.1:p.Arg8788Ter
XM_017010611.2:c.26356C>T (SYNE1) XP_016866100.1:p.Arg8786Ter
XM_017010612.1:c.26305C>T (SYNE1) XP_016866101.1:p.Arg8769Ter
XM_017010613.1:c.26269C>T (SYNE1) XP_016866102.1:p.Arg8757Ter
XM_017010614.1:c.26227C>T (SYNE1) XP_016866103.1:p.Arg8743Ter
XM_017010615.1:c.26116C>T (SYNE1) XP_016866104.1:p.Arg8706Ter
XM_017010616.1:c.*47C>T (SYNE1) XP_016866105.1:n.*47C>T
XM_017010617.1:c.*47C>T (SYNE1) XP_016866106.1:n.*47C>T
XM_017010618.1:c.*47C>T (SYNE1) XP_016866107.1:n.*47C>T
XM_017010619.1:c.24658C>T (SYNE1) XP_016866108.1:p.Arg8220Ter