Canonical Allele Identifier: CA366081440

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152462386T>G (hg19) ; chr6:g.152141251T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141251T>G , CM000668.2:g.152141251T>G	GRCh38
NC_000006.11:g.152462386T>G , CM000668.1:g.152462386T>G	GRCh37
NC_000006.10:g.152504079T>G	NCBI36
NG_012855.1:g.501149A>C
NG_012855.2:g.501149A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1732A>C MANE Plus Clinical	ENSP00000346701.4:p.Ser578Arg
ENST00000367255.10:c.25198A>C MANE Select	ENSP00000356224.5:p.Ser8400Arg
ENST00000423061.6:c.25054A>C	ENSP00000396024.1:p.Ser8352Arg
ENST00000672154.1:c.600A>C
ENST00000672169.1:c.933A>C
ENST00000673173.1:c.891-1090A>C
ENST00000673451.1:c.970A>C	ENSP00000500189.1:p.Ser324Arg
ENST00000341594.9:c.23983A>C	ENSP00000341887.6:p.Ser7995Arg
ENST00000347037.9:n.1946A>C
ENST00000354674.4:c.1732A>C	ENSP00000346701.4:p.Ser578Arg
ENST00000367251.7:c.4033A>C	ENSP00000356220.3:p.Ser1345Arg
ENST00000367255.9:c.25198A>C	ENSP00000356224.5:p.Ser8400Arg
ENST00000367256.9:n.8890A>C
ENST00000367257.8:c.3136A>C	ENSP00000356226.4:p.Ser1046Arg
ENST00000409694.6:n.8782A>C
ENST00000423061.5:c.25054A>C	ENSP00000396024.1:p.Ser8352Arg
ENST00000460912.6:n.1812A>C
ENST00000478916.5:n.4220A>C
ENST00000536990.5:n.2035A>C
ENST00000539504.5:c.1663A>C	ENSP00000441052.1:p.Ser555Arg
NM_033071.3:c.25054A>C	NP_149062.1:p.Ser8352Arg
NM_182961.3:c.25198A>C	NP_892006.3:p.Ser8400Arg
XM_006715407.1:c.25303A>C	XP_006715470.1:p.Ser8435Arg
XM_006715408.1:c.25291A>C	XP_006715471.1:p.Ser8431Arg
XM_006715409.1:c.25282A>C	XP_006715472.1:p.Ser8428Arg
XM_006715410.1:c.25303A>C	XP_006715473.1:p.Ser8435Arg
XM_006715411.1:c.25252A>C	XP_006715474.1:p.Ser8418Arg
XM_006715412.1:c.25288A>C	XP_006715475.1:p.Ser8430Arg
XM_006715413.1:c.25234A>C	XP_006715476.1:p.Ser8412Arg
XM_006715414.1:c.25231A>C	XP_006715477.1:p.Ser8411Arg
XM_006715415.1:c.25234A>C	XP_006715478.1:p.Ser8412Arg
XM_006715416.1:c.25219A>C	XP_006715479.1:p.Ser8407Arg
XM_006715417.1:c.25162A>C	XP_006715480.1:p.Ser8388Arg
XM_006715420.1:c.25150A>C	XP_006715483.1:p.Ser8384Arg
XM_006715421.1:c.25147A>C	XP_006715484.1:p.Ser8383Arg
XM_006715422.1:c.25144A>C	XP_006715485.1:p.Ser8382Arg
XM_006715423.1:c.25303A>C	XP_006715486.1:p.Ser8435Arg
XM_006715424.1:c.25303A>C	XP_006715487.1:p.Ser8435Arg
XM_006715425.1:c.25234A>C	XP_006715488.1:p.Ser8412Arg
XM_011535641.1:c.25300A>C	XP_011533943.1:p.Ser8434Arg
XM_011535642.1:c.25288A>C	XP_011533944.1:p.Ser8430Arg
XM_011535643.1:c.25138A>C	XP_011533945.1:p.Ser8380Arg
XM_011535644.1:c.23578A>C	XP_011533946.1:p.Ser7860Arg
XM_011535645.1:c.23071A>C	XP_011533947.1:p.Ser7691Arg
XM_011535647.1:c.18538A>C	XP_011533949.1:p.Ser6180Arg
NM_001347701.1:c.1804A>C	NP_001334630.1:p.Ser602Arg
NM_001347702.1:c.1732A>C	NP_001334631.1:p.Ser578Arg
XM_006715408.2:c.25291A>C	XP_006715471.1:p.Ser8431Arg
XM_006715410.2:c.25303A>C	XP_006715473.1:p.Ser8435Arg
XM_006715412.2:c.25288A>C	XP_006715475.1:p.Ser8430Arg
XM_006715413.2:c.25234A>C	XP_006715476.1:p.Ser8412Arg
XM_006715415.2:c.25234A>C	XP_006715478.1:p.Ser8412Arg
XM_006715416.2:c.25219A>C	XP_006715479.1:p.Ser8407Arg
XM_006715417.2:c.25162A>C	XP_006715480.1:p.Ser8388Arg
XM_006715420.2:c.25150A>C	XP_006715483.1:p.Ser8384Arg
XM_006715421.2:c.25147A>C	XP_006715484.1:p.Ser8383Arg
XM_006715423.2:c.25303A>C	XP_006715486.1:p.Ser8435Arg
XM_006715424.2:c.25303A>C	XP_006715487.1:p.Ser8435Arg
XM_006715425.2:c.25234A>C	XP_006715488.1:p.Ser8412Arg
XM_011535641.2:c.25300A>C	XP_011533943.1:p.Ser8434Arg
XM_011535642.2:c.25288A>C	XP_011533944.1:p.Ser8430Arg
XM_011535645.2:c.23071A>C	XP_011533947.1:p.Ser7691Arg
XM_017010608.1:c.25303A>C	XP_016866097.1:p.Ser8435Arg
XM_017010609.1:c.25303A>C	XP_016866098.1:p.Ser8435Arg
XM_017010610.1:c.25282A>C	XP_016866099.1:p.Ser8428Arg
XM_017010611.2:c.25276A>C	XP_016866100.1:p.Ser8426Arg
XM_017010612.1:c.25225A>C	XP_016866101.1:p.Ser8409Arg
XM_017010613.1:c.25231A>C	XP_016866102.1:p.Ser8411Arg
XM_017010614.1:c.25147A>C	XP_016866103.1:p.Ser8383Arg
XM_017010615.1:c.25078A>C	XP_016866104.1:p.Ser8360Arg
XM_017010616.1:c.25234A>C	XP_016866105.1:p.Ser8412Arg
XM_017010617.1:c.25231A>C	XP_016866106.1:p.Ser8411Arg
XM_017010618.1:c.25219A>C	XP_016866107.1:p.Ser8407Arg
XM_017010619.1:c.23578A>C	XP_016866108.1:p.Ser7860Arg
NM_182961.4:c.25198A>C MANE Select	NP_892006.3:p.Ser8400Arg
NM_001347701.2:c.1804A>C	NP_001334630.1:p.Ser602Arg
NM_001347702.2:c.1732A>C MANE Plus Clinical	NP_001334631.1:p.Ser578Arg
NM_033071.5:c.25054A>C	NP_149062.2:p.Ser8352Arg