Canonical Allele Identifier: CA452969658

Linked Data

MyVariant Identifiers: chr6:g.152443673A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122538A>G , CM000668.2:g.152122538A>G GRCh38
NC_000006.11:g.152443673A>G , CM000668.1:g.152443673A>G GRCh37
NC_000006.10:g.152485366A>G NCBI36
NG_012855.1:g.519862T>C
NG_008493.2:g.470848A>G
NG_012855.2:g.519862T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2826T>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Leu942=
ENST00000367255.10:c.26292T>C (SYNE1) MANE Select ENSP00000356224.5:p.Leu8764=
ENST00000423061.6:c.26148T>C (SYNE1) ENSP00000396024.1:p.Leu8716=
ENST00000672154.1:c.1635T>C (SYNE1)
ENST00000672169.1:c.2010T>C (SYNE1)
ENST00000673173.1:c.1877T>C (SYNE1)
ENST00000673451.1:c.2142T>C (SYNE1) ENSP00000500189.1:n.2142T>C
ENST00000341594.9:c.25077T>C (SYNE1) ENSP00000341887.6:p.Leu8359=
ENST00000347037.9:n.3040T>C (SYNE1)
ENST00000354674.4:c.2826T>C (SYNE1) ENSP00000346701.4:p.Leu942=
ENST00000367251.7:c.5068T>C (SYNE1) ENSP00000356220.3:n.5068T>C
ENST00000367255.9:c.26292T>C (SYNE1) ENSP00000356224.5:p.Leu8764=
ENST00000367256.9:n.9984T>C (SYNE1)
ENST00000367257.8:c.4171T>C (SYNE1) ENSP00000356226.4:n.4171T>C
ENST00000409694.6:n.9876T>C (SYNE1)
ENST00000423061.5:c.26148T>C (SYNE1) ENSP00000396024.1:p.Leu8716=
ENST00000427531.6:c.851-2728A>G (ESR1) ENSP00000394721.2:n.851-2728A>G
ENST00000460912.6:n.2906T>C (SYNE1)
ENST00000478916.5:n.6929T>C (SYNE1)
ENST00000539504.5:c.2757T>C (SYNE1) ENSP00000441052.1:p.Leu919=
NM_033071.3:c.26148T>C (SYNE1) NP_149062.1:p.Leu8716=
NM_182961.3:c.26292T>C (SYNE1) NP_892006.3:p.Leu8764=
XM_006715407.1:c.26439T>C (SYNE1) XP_006715470.1:p.Leu8813=
XM_006715408.1:c.26427T>C (SYNE1) XP_006715471.1:p.Leu8809=
XM_006715409.1:c.26418T>C (SYNE1) XP_006715472.1:p.Leu8806=
XM_006715410.1:c.26397T>C (SYNE1) XP_006715473.1:p.Leu8799=
XM_006715411.1:c.26388T>C (SYNE1) XP_006715474.1:p.Leu8796=
XM_006715412.1:c.26382T>C (SYNE1) XP_006715475.1:p.Leu8794=
XM_006715413.1:c.26370T>C (SYNE1) XP_006715476.1:p.Leu8790=
XM_006715414.1:c.26367T>C (SYNE1) XP_006715477.1:p.Leu8789=
XM_006715415.1:c.26328T>C (SYNE1) XP_006715478.1:p.Leu8776=
XM_006715416.1:c.26313T>C (SYNE1) XP_006715479.1:p.Leu8771=
XM_006715417.1:c.26298T>C (SYNE1) XP_006715480.1:p.Leu8766=
XM_006715420.1:c.26286T>C (SYNE1) XP_006715483.1:p.Leu8762=
XM_006715421.1:c.26283T>C (SYNE1) XP_006715484.1:p.Leu8761=
XM_006715422.1:c.26280T>C (SYNE1) XP_006715485.1:p.Leu8760=
XM_006715423.1:c.*103T>C (SYNE1) XP_006715486.1:n.*103T>C
XM_006715424.1:c.*103T>C (SYNE1) XP_006715487.1:n.*103T>C
XM_006715425.1:c.*103T>C (SYNE1) XP_006715488.1:n.*103T>C
XM_011535641.1:c.26436T>C (SYNE1) XP_011533943.1:p.Leu8812=
XM_011535642.1:c.26424T>C (SYNE1) XP_011533944.1:p.Leu8808=
XM_011535643.1:c.26274T>C (SYNE1) XP_011533945.1:p.Leu8758=
XM_011535644.1:c.24714T>C (SYNE1) XP_011533946.1:p.Leu8238=
XM_011535645.1:c.24207T>C (SYNE1) XP_011533947.1:p.Leu8069=
XM_011535647.1:c.19674T>C (SYNE1) XP_011533949.1:p.Leu6558=
NM_001328100.1:c.851-2728A>G (ESR1) NP_001315029.1:n.851-2728A>G
NM_001347701.1:c.*103T>C (SYNE1) NP_001334630.1:n.*103T>C
NM_001347702.1:c.2826T>C (SYNE1) NP_001334631.1:p.Leu942=
XM_006715408.2:c.26427T>C (SYNE1) XP_006715471.1:p.Leu8809=
XM_006715410.2:c.26397T>C (SYNE1) XP_006715473.1:p.Leu8799=
XM_006715412.2:c.26382T>C (SYNE1) XP_006715475.1:p.Leu8794=
XM_006715413.2:c.26370T>C (SYNE1) XP_006715476.1:p.Leu8790=
XM_006715415.2:c.26328T>C (SYNE1) XP_006715478.1:p.Leu8776=
XM_006715416.2:c.26313T>C (SYNE1) XP_006715479.1:p.Leu8771=
XM_006715417.2:c.26298T>C (SYNE1) XP_006715480.1:p.Leu8766=
XM_006715420.2:c.26286T>C (SYNE1) XP_006715483.1:p.Leu8762=
XM_006715421.2:c.26283T>C (SYNE1) XP_006715484.1:p.Leu8761=
XM_006715423.2:c.*103T>C (SYNE1) XP_006715486.1:n.*103T>C
XM_006715424.2:c.*103T>C (SYNE1) XP_006715487.1:n.*103T>C
XM_006715425.2:c.*103T>C (SYNE1) XP_006715488.1:n.*103T>C
XM_011535641.2:c.26436T>C (SYNE1) XP_011533943.1:p.Leu8812=
XM_011535642.2:c.26424T>C (SYNE1) XP_011533944.1:p.Leu8808=
XM_011535645.2:c.24207T>C (SYNE1) XP_011533947.1:p.Leu8069=
XM_017010608.1:c.26439T>C (SYNE1) XP_016866097.1:p.Leu8813=
XM_017010609.1:c.26439T>C (SYNE1) XP_016866098.1:p.Leu8813=
XM_017010610.1:c.26418T>C (SYNE1) XP_016866099.1:p.Leu8806=
XM_017010611.2:c.26412T>C (SYNE1) XP_016866100.1:p.Leu8804=
XM_017010612.1:c.26361T>C (SYNE1) XP_016866101.1:p.Leu8787=
XM_017010613.1:c.26325T>C (SYNE1) XP_016866102.1:p.Leu8775=
XM_017010614.1:c.26283T>C (SYNE1) XP_016866103.1:p.Leu8761=
XM_017010615.1:c.26172T>C (SYNE1) XP_016866104.1:p.Leu8724=
XM_017010616.1:c.*103T>C (SYNE1) XP_016866105.1:n.*103T>C
XM_017010617.1:c.*103T>C (SYNE1) XP_016866106.1:n.*103T>C
XM_017010618.1:c.*103T>C (SYNE1) XP_016866107.1:n.*103T>C
XM_017010619.1:c.24714T>C (SYNE1) XP_016866108.1:p.Leu8238=
NM_182961.4:c.26292T>C (SYNE1) MANE Select NP_892006.3:p.Leu8764=
NM_001328100.2:c.851-2728A>G (ESR1) NP_001315029.1:n.851-2728A>G
NM_001347701.2:c.*103T>C (SYNE1) NP_001334630.1:n.*103T>C
NM_001347702.2:c.2826T>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Leu942=
NM_033071.5:c.26148T>C (SYNE1) NP_149062.2:p.Leu8716=