Canonical Allele Identifier: CA452969693

Linked Data

MyVariant Identifiers: chr6:g.152443688G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122553G>T , CM000668.2:g.152122553G>T GRCh38
NC_000006.11:g.152443688G>T , CM000668.1:g.152443688G>T GRCh37
NC_000006.10:g.152485381G>T NCBI36
NG_012855.1:g.519847C>A
NG_008493.2:g.470863G>T
NG_012855.2:g.519847C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2811C>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Ile937=
ENST00000367255.10:c.26277C>A (SYNE1) MANE Select ENSP00000356224.5:p.Ile8759=
ENST00000423061.6:c.26133C>A (SYNE1) ENSP00000396024.1:p.Ile8711=
ENST00000672154.1:c.1620C>A (SYNE1)
ENST00000672169.1:c.1995C>A (SYNE1)
ENST00000673173.1:c.1862C>A (SYNE1)
ENST00000673451.1:c.2127C>A (SYNE1) ENSP00000500189.1:n.2127C>A
ENST00000341594.9:c.25062C>A (SYNE1) ENSP00000341887.6:p.Ile8354=
ENST00000347037.9:n.3025C>A (SYNE1)
ENST00000354674.4:c.2811C>A (SYNE1) ENSP00000346701.4:p.Ile937=
ENST00000367251.7:c.5053C>A (SYNE1) ENSP00000356220.3:n.5053C>A
ENST00000367255.9:c.26277C>A (SYNE1) ENSP00000356224.5:p.Ile8759=
ENST00000367256.9:n.9969C>A (SYNE1)
ENST00000367257.8:c.4156C>A (SYNE1) ENSP00000356226.4:n.4156C>A
ENST00000409694.6:n.9861C>A (SYNE1)
ENST00000423061.5:c.26133C>A (SYNE1) ENSP00000396024.1:p.Ile8711=
ENST00000427531.6:c.851-2713G>T (ESR1) ENSP00000394721.2:n.851-2713G>T
ENST00000460912.6:n.2891C>A (SYNE1)
ENST00000478916.5:n.6914C>A (SYNE1)
ENST00000539504.5:c.2742C>A (SYNE1) ENSP00000441052.1:p.Ile914=
NM_033071.3:c.26133C>A (SYNE1) NP_149062.1:p.Ile8711=
NM_182961.3:c.26277C>A (SYNE1) NP_892006.3:p.Ile8759=
XM_006715407.1:c.26424C>A (SYNE1) XP_006715470.1:p.Ile8808=
XM_006715408.1:c.26412C>A (SYNE1) XP_006715471.1:p.Ile8804=
XM_006715409.1:c.26403C>A (SYNE1) XP_006715472.1:p.Ile8801=
XM_006715410.1:c.26382C>A (SYNE1) XP_006715473.1:p.Ile8794=
XM_006715411.1:c.26373C>A (SYNE1) XP_006715474.1:p.Ile8791=
XM_006715412.1:c.26367C>A (SYNE1) XP_006715475.1:p.Ile8789=
XM_006715413.1:c.26355C>A (SYNE1) XP_006715476.1:p.Ile8785=
XM_006715414.1:c.26352C>A (SYNE1) XP_006715477.1:p.Ile8784=
XM_006715415.1:c.26313C>A (SYNE1) XP_006715478.1:p.Ile8771=
XM_006715416.1:c.26298C>A (SYNE1) XP_006715479.1:p.Ile8766=
XM_006715417.1:c.26283C>A (SYNE1) XP_006715480.1:p.Ile8761=
XM_006715420.1:c.26271C>A (SYNE1) XP_006715483.1:p.Ile8757=
XM_006715421.1:c.26268C>A (SYNE1) XP_006715484.1:p.Ile8756=
XM_006715422.1:c.26265C>A (SYNE1) XP_006715485.1:p.Ile8755=
XM_006715423.1:c.*88C>A (SYNE1) XP_006715486.1:n.*88C>A
XM_006715424.1:c.*88C>A (SYNE1) XP_006715487.1:n.*88C>A
XM_006715425.1:c.*88C>A (SYNE1) XP_006715488.1:n.*88C>A
XM_011535641.1:c.26421C>A (SYNE1) XP_011533943.1:p.Ile8807=
XM_011535642.1:c.26409C>A (SYNE1) XP_011533944.1:p.Ile8803=
XM_011535643.1:c.26259C>A (SYNE1) XP_011533945.1:p.Ile8753=
XM_011535644.1:c.24699C>A (SYNE1) XP_011533946.1:p.Ile8233=
XM_011535645.1:c.24192C>A (SYNE1) XP_011533947.1:p.Ile8064=
XM_011535647.1:c.19659C>A (SYNE1) XP_011533949.1:p.Ile6553=
NM_001328100.1:c.851-2713G>T (ESR1) NP_001315029.1:n.851-2713G>T
NM_001347701.1:c.*88C>A (SYNE1) NP_001334630.1:n.*88C>A
NM_001347702.1:c.2811C>A (SYNE1) NP_001334631.1:p.Ile937=
XM_006715408.2:c.26412C>A (SYNE1) XP_006715471.1:p.Ile8804=
XM_006715410.2:c.26382C>A (SYNE1) XP_006715473.1:p.Ile8794=
XM_006715412.2:c.26367C>A (SYNE1) XP_006715475.1:p.Ile8789=
XM_006715413.2:c.26355C>A (SYNE1) XP_006715476.1:p.Ile8785=
XM_006715415.2:c.26313C>A (SYNE1) XP_006715478.1:p.Ile8771=
XM_006715416.2:c.26298C>A (SYNE1) XP_006715479.1:p.Ile8766=
XM_006715417.2:c.26283C>A (SYNE1) XP_006715480.1:p.Ile8761=
XM_006715420.2:c.26271C>A (SYNE1) XP_006715483.1:p.Ile8757=
XM_006715421.2:c.26268C>A (SYNE1) XP_006715484.1:p.Ile8756=
XM_006715423.2:c.*88C>A (SYNE1) XP_006715486.1:n.*88C>A
XM_006715424.2:c.*88C>A (SYNE1) XP_006715487.1:n.*88C>A
XM_006715425.2:c.*88C>A (SYNE1) XP_006715488.1:n.*88C>A
XM_011535641.2:c.26421C>A (SYNE1) XP_011533943.1:p.Ile8807=
XM_011535642.2:c.26409C>A (SYNE1) XP_011533944.1:p.Ile8803=
XM_011535645.2:c.24192C>A (SYNE1) XP_011533947.1:p.Ile8064=
XM_017010608.1:c.26424C>A (SYNE1) XP_016866097.1:p.Ile8808=
XM_017010609.1:c.26424C>A (SYNE1) XP_016866098.1:p.Ile8808=
XM_017010610.1:c.26403C>A (SYNE1) XP_016866099.1:p.Ile8801=
XM_017010611.2:c.26397C>A (SYNE1) XP_016866100.1:p.Ile8799=
XM_017010612.1:c.26346C>A (SYNE1) XP_016866101.1:p.Ile8782=
XM_017010613.1:c.26310C>A (SYNE1) XP_016866102.1:p.Ile8770=
XM_017010614.1:c.26268C>A (SYNE1) XP_016866103.1:p.Ile8756=
XM_017010615.1:c.26157C>A (SYNE1) XP_016866104.1:p.Ile8719=
XM_017010616.1:c.*88C>A (SYNE1) XP_016866105.1:n.*88C>A
XM_017010617.1:c.*88C>A (SYNE1) XP_016866106.1:n.*88C>A
XM_017010618.1:c.*88C>A (SYNE1) XP_016866107.1:n.*88C>A
XM_017010619.1:c.24699C>A (SYNE1) XP_016866108.1:p.Ile8233=
NM_182961.4:c.26277C>A (SYNE1) MANE Select NP_892006.3:p.Ile8759=
NM_001328100.2:c.851-2713G>T (ESR1) NP_001315029.1:n.851-2713G>T
NM_001347701.2:c.*88C>A (SYNE1) NP_001334630.1:n.*88C>A
NM_001347702.2:c.2811C>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Ile937=
NM_033071.5:c.26133C>A (SYNE1) NP_149062.2:p.Ile8711=