Canonical Allele Identifier: CA452969649

Linked Data

MyVariant Identifiers: chr6:g.152443751G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122616G>T , CM000668.2:g.152122616G>T GRCh38
NC_000006.11:g.152443751G>T , CM000668.1:g.152443751G>T GRCh37
NC_000006.10:g.152485444G>T NCBI36
NG_012855.1:g.519784C>A
NG_008493.2:g.470926G>T
NG_012855.2:g.519784C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000354674.5:c.2748C>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Arg916=
ENST00000367255.10:c.26214C>A (SYNE1) MANE Select ENSP00000356224.5:p.Arg8738=
ENST00000423061.6:c.26070C>A (SYNE1) ENSP00000396024.1:p.Arg8690=
ENST00000672154.1:c.1557C>A (SYNE1)
ENST00000672169.1:c.1932C>A (SYNE1)
ENST00000673173.1:c.1799C>A (SYNE1)
ENST00000673451.1:c.2064C>A (SYNE1) ENSP00000500189.1:n.2064C>A
ENST00000341594.9:c.24999C>A (SYNE1) ENSP00000341887.6:p.Arg8333=
ENST00000347037.9:n.2962C>A (SYNE1)
ENST00000354674.4:c.2748C>A (SYNE1) ENSP00000346701.4:p.Arg916=
ENST00000367251.7:c.4990C>A (SYNE1) ENSP00000356220.3:n.4990C>A
ENST00000367255.9:c.26214C>A (SYNE1) ENSP00000356224.5:p.Arg8738=
ENST00000367256.9:n.9906C>A (SYNE1)
ENST00000367257.8:c.4093C>A (SYNE1) ENSP00000356226.4:n.4093C>A
ENST00000409694.6:n.9798C>A (SYNE1)
ENST00000423061.5:c.26070C>A (SYNE1) ENSP00000396024.1:p.Arg8690=
ENST00000427531.6:c.851-2650G>T (ESR1) ENSP00000394721.2:n.851-2650G>T
ENST00000460912.6:n.2828C>A (SYNE1)
ENST00000478916.5:n.6851C>A (SYNE1)
ENST00000536990.5:n.2992C>A (SYNE1)
ENST00000539504.5:c.2679C>A (SYNE1) ENSP00000441052.1:p.Arg893=
NM_033071.3:c.26070C>A (SYNE1) NP_149062.1:p.Arg8690=
NM_182961.3:c.26214C>A (SYNE1) NP_892006.3:p.Arg8738=
XM_006715407.1:c.26361C>A (SYNE1) XP_006715470.1:p.Arg8787=
XM_006715408.1:c.26349C>A (SYNE1) XP_006715471.1:p.Arg8783=
XM_006715409.1:c.26340C>A (SYNE1) XP_006715472.1:p.Arg8780=
XM_006715410.1:c.26319C>A (SYNE1) XP_006715473.1:p.Arg8773=
XM_006715411.1:c.26310C>A (SYNE1) XP_006715474.1:p.Arg8770=
XM_006715412.1:c.26304C>A (SYNE1) XP_006715475.1:p.Arg8768=
XM_006715413.1:c.26292C>A (SYNE1) XP_006715476.1:p.Arg8764=
XM_006715414.1:c.26289C>A (SYNE1) XP_006715477.1:p.Arg8763=
XM_006715415.1:c.26250C>A (SYNE1) XP_006715478.1:p.Arg8750=
XM_006715416.1:c.26235C>A (SYNE1) XP_006715479.1:p.Arg8745=
XM_006715417.1:c.26220C>A (SYNE1) XP_006715480.1:p.Arg8740=
XM_006715420.1:c.26208C>A (SYNE1) XP_006715483.1:p.Arg8736=
XM_006715421.1:c.26205C>A (SYNE1) XP_006715484.1:p.Arg8735=
XM_006715422.1:c.26202C>A (SYNE1) XP_006715485.1:p.Arg8734=
XM_006715423.1:c.*25C>A (SYNE1) XP_006715486.1:n.*25C>A
XM_006715424.1:c.*25C>A (SYNE1) XP_006715487.1:n.*25C>A
XM_006715425.1:c.*25C>A (SYNE1) XP_006715488.1:n.*25C>A
XM_011535641.1:c.26358C>A (SYNE1) XP_011533943.1:p.Arg8786=
XM_011535642.1:c.26346C>A (SYNE1) XP_011533944.1:p.Arg8782=
XM_011535643.1:c.26196C>A (SYNE1) XP_011533945.1:p.Arg8732=
XM_011535644.1:c.24636C>A (SYNE1) XP_011533946.1:p.Arg8212=
XM_011535645.1:c.24129C>A (SYNE1) XP_011533947.1:p.Arg8043=
XM_011535647.1:c.19596C>A (SYNE1) XP_011533949.1:p.Arg6532=
NM_001328100.1:c.851-2650G>T (ESR1) NP_001315029.1:n.851-2650G>T
NM_001347701.1:c.*25C>A (SYNE1) NP_001334630.1:n.*25C>A
NM_001347702.1:c.2748C>A (SYNE1) NP_001334631.1:p.Arg916=
XM_006715408.2:c.26349C>A (SYNE1) XP_006715471.1:p.Arg8783=
XM_006715410.2:c.26319C>A (SYNE1) XP_006715473.1:p.Arg8773=
XM_006715412.2:c.26304C>A (SYNE1) XP_006715475.1:p.Arg8768=
XM_006715413.2:c.26292C>A (SYNE1) XP_006715476.1:p.Arg8764=
XM_006715415.2:c.26250C>A (SYNE1) XP_006715478.1:p.Arg8750=
XM_006715416.2:c.26235C>A (SYNE1) XP_006715479.1:p.Arg8745=
XM_006715417.2:c.26220C>A (SYNE1) XP_006715480.1:p.Arg8740=
XM_006715420.2:c.26208C>A (SYNE1) XP_006715483.1:p.Arg8736=
XM_006715421.2:c.26205C>A (SYNE1) XP_006715484.1:p.Arg8735=
XM_006715423.2:c.*25C>A (SYNE1) XP_006715486.1:n.*25C>A
XM_006715424.2:c.*25C>A (SYNE1) XP_006715487.1:n.*25C>A
XM_006715425.2:c.*25C>A (SYNE1) XP_006715488.1:n.*25C>A
XM_011535641.2:c.26358C>A (SYNE1) XP_011533943.1:p.Arg8786=
XM_011535642.2:c.26346C>A (SYNE1) XP_011533944.1:p.Arg8782=
XM_011535645.2:c.24129C>A (SYNE1) XP_011533947.1:p.Arg8043=
XM_017010608.1:c.26361C>A (SYNE1) XP_016866097.1:p.Arg8787=
XM_017010609.1:c.26361C>A (SYNE1) XP_016866098.1:p.Arg8787=
XM_017010610.1:c.26340C>A (SYNE1) XP_016866099.1:p.Arg8780=
XM_017010611.2:c.26334C>A (SYNE1) XP_016866100.1:p.Arg8778=
XM_017010612.1:c.26283C>A (SYNE1) XP_016866101.1:p.Arg8761=
XM_017010613.1:c.26247C>A (SYNE1) XP_016866102.1:p.Arg8749=
XM_017010614.1:c.26205C>A (SYNE1) XP_016866103.1:p.Arg8735=
XM_017010615.1:c.26094C>A (SYNE1) XP_016866104.1:p.Arg8698=
XM_017010616.1:c.*25C>A (SYNE1) XP_016866105.1:n.*25C>A
XM_017010617.1:c.*25C>A (SYNE1) XP_016866106.1:n.*25C>A
XM_017010618.1:c.*25C>A (SYNE1) XP_016866107.1:n.*25C>A
XM_017010619.1:c.24636C>A (SYNE1) XP_016866108.1:p.Arg8212=
NM_182961.4:c.26214C>A (SYNE1) MANE Select NP_892006.3:p.Arg8738=
NM_001328100.2:c.851-2650G>T (ESR1) NP_001315029.1:n.851-2650G>T
NM_001347701.2:c.*25C>A (SYNE1) NP_001334630.1:n.*25C>A
NM_001347702.2:c.2748C>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Arg916=
NM_033071.5:c.26070C>A (SYNE1) NP_149062.2:p.Arg8690=