Canonical Allele Identifier: CA366080540

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461216G>C (hg19) ; chr6:g.152140081G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140081G>C , CM000668.2:g.152140081G>C	GRCh38
NC_000006.11:g.152461216G>C , CM000668.1:g.152461216G>C	GRCh37
NC_000006.10:g.152502909G>C	NCBI36
NG_012855.1:g.502319C>G
NG_012855.2:g.502319C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1861C>G MANE Plus Clinical	ENSP00000346701.4:p.Gln621Glu
ENST00000367255.10:c.25327C>G MANE Select	ENSP00000356224.5:p.Gln8443Glu
ENST00000423061.6:c.25183C>G	ENSP00000396024.1:p.Gln8395Glu
ENST00000672154.1:c.729C>G
ENST00000672169.1:c.1062C>G
ENST00000673173.1:c.971C>G
ENST00000673451.1:c.1099C>G	ENSP00000500189.1:p.Gln367Glu
ENST00000341594.9:c.24112C>G	ENSP00000341887.6:p.Gln8038Glu
ENST00000347037.9:n.2075C>G
ENST00000354674.4:c.1861C>G	ENSP00000346701.4:p.Gln621Glu
ENST00000367251.7:c.4162C>G	ENSP00000356220.3:p.Gln1388Glu
ENST00000367255.9:c.25327C>G	ENSP00000356224.5:p.Gln8443Glu
ENST00000367256.9:n.9019C>G
ENST00000367257.8:c.3265C>G	ENSP00000356226.4:p.Gln1089Glu
ENST00000409694.6:n.8911C>G
ENST00000423061.5:c.25183C>G	ENSP00000396024.1:p.Gln8395Glu
ENST00000460912.6:n.1941C>G
ENST00000478916.5:n.4349C>G
ENST00000536990.5:n.2164C>G
ENST00000539504.5:c.1792C>G	ENSP00000441052.1:p.Gln598Glu
NM_033071.3:c.25183C>G	NP_149062.1:p.Gln8395Glu
NM_182961.3:c.25327C>G	NP_892006.3:p.Gln8443Glu
XM_006715407.1:c.25432C>G	XP_006715470.1:p.Gln8478Glu
XM_006715408.1:c.25420C>G	XP_006715471.1:p.Gln8474Glu
XM_006715409.1:c.25411C>G	XP_006715472.1:p.Gln8471Glu
XM_006715410.1:c.25432C>G	XP_006715473.1:p.Gln8478Glu
XM_006715411.1:c.25381C>G	XP_006715474.1:p.Gln8461Glu
XM_006715412.1:c.25417C>G	XP_006715475.1:p.Gln8473Glu
XM_006715413.1:c.25363C>G	XP_006715476.1:p.Gln8455Glu
XM_006715414.1:c.25360C>G	XP_006715477.1:p.Gln8454Glu
XM_006715415.1:c.25363C>G	XP_006715478.1:p.Gln8455Glu
XM_006715416.1:c.25348C>G	XP_006715479.1:p.Gln8450Glu
XM_006715417.1:c.25291C>G	XP_006715480.1:p.Gln8431Glu
XM_006715420.1:c.25279C>G	XP_006715483.1:p.Gln8427Glu
XM_006715421.1:c.25276C>G	XP_006715484.1:p.Gln8426Glu
XM_006715422.1:c.25273C>G	XP_006715485.1:p.Gln8425Glu
XM_006715423.1:c.25432C>G	XP_006715486.1:p.Gln8478Glu
XM_006715424.1:c.25432C>G	XP_006715487.1:p.Gln8478Glu
XM_006715425.1:c.25363C>G	XP_006715488.1:p.Gln8455Glu
XM_011535641.1:c.25429C>G	XP_011533943.1:p.Gln8477Glu
XM_011535642.1:c.25417C>G	XP_011533944.1:p.Gln8473Glu
XM_011535643.1:c.25267C>G	XP_011533945.1:p.Gln8423Glu
XM_011535644.1:c.23707C>G	XP_011533946.1:p.Gln7903Glu
XM_011535645.1:c.23200C>G	XP_011533947.1:p.Gln7734Glu
XM_011535647.1:c.18667C>G	XP_011533949.1:p.Gln6223Glu
NM_001347701.1:c.1933C>G	NP_001334630.1:p.Gln645Glu
NM_001347702.1:c.1861C>G	NP_001334631.1:p.Gln621Glu
XM_006715408.2:c.25420C>G	XP_006715471.1:p.Gln8474Glu
XM_006715410.2:c.25432C>G	XP_006715473.1:p.Gln8478Glu
XM_006715412.2:c.25417C>G	XP_006715475.1:p.Gln8473Glu
XM_006715413.2:c.25363C>G	XP_006715476.1:p.Gln8455Glu
XM_006715415.2:c.25363C>G	XP_006715478.1:p.Gln8455Glu
XM_006715416.2:c.25348C>G	XP_006715479.1:p.Gln8450Glu
XM_006715417.2:c.25291C>G	XP_006715480.1:p.Gln8431Glu
XM_006715420.2:c.25279C>G	XP_006715483.1:p.Gln8427Glu
XM_006715421.2:c.25276C>G	XP_006715484.1:p.Gln8426Glu
XM_006715423.2:c.25432C>G	XP_006715486.1:p.Gln8478Glu
XM_006715424.2:c.25432C>G	XP_006715487.1:p.Gln8478Glu
XM_006715425.2:c.25363C>G	XP_006715488.1:p.Gln8455Glu
XM_011535641.2:c.25429C>G	XP_011533943.1:p.Gln8477Glu
XM_011535642.2:c.25417C>G	XP_011533944.1:p.Gln8473Glu
XM_011535645.2:c.23200C>G	XP_011533947.1:p.Gln7734Glu
XM_017010608.1:c.25432C>G	XP_016866097.1:p.Gln8478Glu
XM_017010609.1:c.25432C>G	XP_016866098.1:p.Gln8478Glu
XM_017010610.1:c.25411C>G	XP_016866099.1:p.Gln8471Glu
XM_017010611.2:c.25405C>G	XP_016866100.1:p.Gln8469Glu
XM_017010612.1:c.25354C>G	XP_016866101.1:p.Gln8452Glu
XM_017010613.1:c.25360C>G	XP_016866102.1:p.Gln8454Glu
XM_017010614.1:c.25276C>G	XP_016866103.1:p.Gln8426Glu
XM_017010615.1:c.25207C>G	XP_016866104.1:p.Gln8403Glu
XM_017010616.1:c.25363C>G	XP_016866105.1:p.Gln8455Glu
XM_017010617.1:c.25360C>G	XP_016866106.1:p.Gln8454Glu
XM_017010618.1:c.25348C>G	XP_016866107.1:p.Gln8450Glu
XM_017010619.1:c.23707C>G	XP_016866108.1:p.Gln7903Glu
NM_182961.4:c.25327C>G MANE Select	NP_892006.3:p.Gln8443Glu
NM_001347701.2:c.1933C>G	NP_001334630.1:p.Gln645Glu
NM_001347702.2:c.1861C>G MANE Plus Clinical	NP_001334631.1:p.Gln621Glu
NM_033071.5:c.25183C>G	NP_149062.2:p.Gln8395Glu