Canonical Allele Identifier: CA366099190

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152534797C>G (hg19) ; chr6:g.152213662C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213662C>G , CM000668.2:g.152213662C>G	GRCh38
NC_000006.11:g.152534797C>G , CM000668.1:g.152534797C>G	GRCh37
NC_000006.10:g.152576490C>G	NCBI36
NG_012855.1:g.428738G>C
NG_012855.2:g.428738G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22444G>C MANE Select	ENSP00000356224.5:p.Glu7482Gln
ENST00000423061.6:c.22231G>C	ENSP00000396024.1:p.Glu7411Gln
ENST00000341594.9:c.21229G>C	ENSP00000341887.6:p.Glu7077Gln
ENST00000367251.7:c.1210G>C	ENSP00000356220.3:p.Glu404Gln
ENST00000367255.9:c.22444G>C	ENSP00000356224.5:p.Glu7482Gln
ENST00000367256.9:n.6136G>C
ENST00000367257.8:c.382G>C	ENSP00000356226.4:p.Glu128Gln
ENST00000409694.6:n.6028G>C
ENST00000423061.5:c.22231G>C	ENSP00000396024.1:p.Glu7411Gln
NM_033071.3:c.22231G>C	NP_149062.1:p.Glu7411Gln
NM_182961.3:c.22444G>C	NP_892006.3:p.Glu7482Gln
XM_006715407.1:c.22480G>C	XP_006715470.1:p.Glu7494Gln
XM_006715408.1:c.22468G>C	XP_006715471.1:p.Glu7490Gln
XM_006715409.1:c.22459G>C	XP_006715472.1:p.Glu7487Gln
XM_006715410.1:c.22480G>C	XP_006715473.1:p.Glu7494Gln
XM_006715411.1:c.22429G>C	XP_006715474.1:p.Glu7477Gln
XM_006715412.1:c.22465G>C	XP_006715475.1:p.Glu7489Gln
XM_006715413.1:c.22480G>C	XP_006715476.1:p.Glu7494Gln
XM_006715414.1:c.22408G>C	XP_006715477.1:p.Glu7470Gln
XM_006715415.1:c.22480G>C	XP_006715478.1:p.Glu7494Gln
XM_006715416.1:c.22465G>C	XP_006715479.1:p.Glu7489Gln
XM_006715417.1:c.22339G>C	XP_006715480.1:p.Glu7447Gln
XM_006715420.1:c.22327G>C	XP_006715483.1:p.Glu7443Gln
XM_006715421.1:c.22324G>C	XP_006715484.1:p.Glu7442Gln
XM_006715422.1:c.22321G>C	XP_006715485.1:p.Glu7441Gln
XM_006715423.1:c.22480G>C	XP_006715486.1:p.Glu7494Gln
XM_006715424.1:c.22480G>C	XP_006715487.1:p.Glu7494Gln
XM_006715425.1:c.22480G>C	XP_006715488.1:p.Glu7494Gln
XM_011535641.1:c.22477G>C	XP_011533943.1:p.Glu7493Gln
XM_011535642.1:c.22465G>C	XP_011533944.1:p.Glu7489Gln
XM_011535643.1:c.22315G>C	XP_011533945.1:p.Glu7439Gln
XM_011535644.1:c.20755G>C	XP_011533946.1:p.Glu6919Gln
XM_011535645.1:c.20248G>C	XP_011533947.1:p.Glu6750Gln
XM_011535647.1:c.15715G>C	XP_011533949.1:p.Glu5239Gln
XM_006715408.2:c.22468G>C	XP_006715471.1:p.Glu7490Gln
XM_006715410.2:c.22480G>C	XP_006715473.1:p.Glu7494Gln
XM_006715412.2:c.22465G>C	XP_006715475.1:p.Glu7489Gln
XM_006715413.2:c.22480G>C	XP_006715476.1:p.Glu7494Gln
XM_006715415.2:c.22480G>C	XP_006715478.1:p.Glu7494Gln
XM_006715416.2:c.22465G>C	XP_006715479.1:p.Glu7489Gln
XM_006715417.2:c.22339G>C	XP_006715480.1:p.Glu7447Gln
XM_006715420.2:c.22327G>C	XP_006715483.1:p.Glu7443Gln
XM_006715421.2:c.22324G>C	XP_006715484.1:p.Glu7442Gln
XM_006715423.2:c.22480G>C	XP_006715486.1:p.Glu7494Gln
XM_006715424.2:c.22480G>C	XP_006715487.1:p.Glu7494Gln
XM_006715425.2:c.22480G>C	XP_006715488.1:p.Glu7494Gln
XM_011535641.2:c.22477G>C	XP_011533943.1:p.Glu7493Gln
XM_011535642.2:c.22465G>C	XP_011533944.1:p.Glu7489Gln
XM_011535645.2:c.20248G>C	XP_011533947.1:p.Glu6750Gln
XM_017010608.1:c.22480G>C	XP_016866097.1:p.Glu7494Gln
XM_017010609.1:c.22480G>C	XP_016866098.1:p.Glu7494Gln
XM_017010610.1:c.22459G>C	XP_016866099.1:p.Glu7487Gln
XM_017010611.2:c.22453G>C	XP_016866100.1:p.Glu7485Gln
XM_017010612.1:c.22402G>C	XP_016866101.1:p.Glu7468Gln
XM_017010613.1:c.22477G>C	XP_016866102.1:p.Glu7493Gln
XM_017010614.1:c.22324G>C	XP_016866103.1:p.Glu7442Gln
XM_017010615.1:c.22324G>C	XP_016866104.1:p.Glu7442Gln
XM_017010616.1:c.22480G>C	XP_016866105.1:p.Glu7494Gln
XM_017010617.1:c.22477G>C	XP_016866106.1:p.Glu7493Gln
XM_017010618.1:c.22465G>C	XP_016866107.1:p.Glu7489Gln
XM_017010619.1:c.20755G>C	XP_016866108.1:p.Glu6919Gln
NM_182961.4:c.22444G>C MANE Select	NP_892006.3:p.Glu7482Gln
NM_033071.5:c.22231G>C	NP_149062.2:p.Glu7411Gln