Canonical Allele Identifier: CA452969972

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461283T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140148T>G , CM000668.2:g.152140148T>G	GRCh38
NC_000006.11:g.152461283T>G , CM000668.1:g.152461283T>G	GRCh37
NC_000006.10:g.152502976T>G	NCBI36
NG_012855.1:g.502252A>C
NG_012855.2:g.502252A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1794A>C MANE Plus Clinical	ENSP00000346701.4:p.Arg598=
ENST00000367255.10:c.25260A>C MANE Select	ENSP00000356224.5:p.Arg8420=
ENST00000423061.6:c.25116A>C	ENSP00000396024.1:p.Arg8372=
ENST00000672154.1:c.662A>C
ENST00000672169.1:c.995A>C
ENST00000673173.1:c.904A>C
ENST00000673451.1:c.1032A>C	ENSP00000500189.1:p.Arg344=
ENST00000341594.9:c.24045A>C	ENSP00000341887.6:p.Arg8015=
ENST00000347037.9:n.2008A>C
ENST00000354674.4:c.1794A>C	ENSP00000346701.4:p.Arg598=
ENST00000367251.7:c.4095A>C	ENSP00000356220.3:p.Arg1365=
ENST00000367255.9:c.25260A>C	ENSP00000356224.5:p.Arg8420=
ENST00000367256.9:n.8952A>C
ENST00000367257.8:c.3198A>C	ENSP00000356226.4:p.Arg1066=
ENST00000409694.6:n.8844A>C
ENST00000423061.5:c.25116A>C	ENSP00000396024.1:p.Arg8372=
ENST00000460912.6:n.1874A>C
ENST00000478916.5:n.4282A>C
ENST00000536990.5:n.2097A>C
ENST00000539504.5:c.1725A>C	ENSP00000441052.1:p.Arg575=
NM_033071.3:c.25116A>C	NP_149062.1:p.Arg8372=
NM_182961.3:c.25260A>C	NP_892006.3:p.Arg8420=
XM_006715407.1:c.25365A>C	XP_006715470.1:p.Arg8455=
XM_006715408.1:c.25353A>C	XP_006715471.1:p.Arg8451=
XM_006715409.1:c.25344A>C	XP_006715472.1:p.Arg8448=
XM_006715410.1:c.25365A>C	XP_006715473.1:p.Arg8455=
XM_006715411.1:c.25314A>C	XP_006715474.1:p.Arg8438=
XM_006715412.1:c.25350A>C	XP_006715475.1:p.Arg8450=
XM_006715413.1:c.25296A>C	XP_006715476.1:p.Arg8432=
XM_006715414.1:c.25293A>C	XP_006715477.1:p.Arg8431=
XM_006715415.1:c.25296A>C	XP_006715478.1:p.Arg8432=
XM_006715416.1:c.25281A>C	XP_006715479.1:p.Arg8427=
XM_006715417.1:c.25224A>C	XP_006715480.1:p.Arg8408=
XM_006715420.1:c.25212A>C	XP_006715483.1:p.Arg8404=
XM_006715421.1:c.25209A>C	XP_006715484.1:p.Arg8403=
XM_006715422.1:c.25206A>C	XP_006715485.1:p.Arg8402=
XM_006715423.1:c.25365A>C	XP_006715486.1:p.Arg8455=
XM_006715424.1:c.25365A>C	XP_006715487.1:p.Arg8455=
XM_006715425.1:c.25296A>C	XP_006715488.1:p.Arg8432=
XM_011535641.1:c.25362A>C	XP_011533943.1:p.Arg8454=
XM_011535642.1:c.25350A>C	XP_011533944.1:p.Arg8450=
XM_011535643.1:c.25200A>C	XP_011533945.1:p.Arg8400=
XM_011535644.1:c.23640A>C	XP_011533946.1:p.Arg7880=
XM_011535645.1:c.23133A>C	XP_011533947.1:p.Arg7711=
XM_011535647.1:c.18600A>C	XP_011533949.1:p.Arg6200=
NM_001347701.1:c.1866A>C	NP_001334630.1:p.Arg622=
NM_001347702.1:c.1794A>C	NP_001334631.1:p.Arg598=
XM_006715408.2:c.25353A>C	XP_006715471.1:p.Arg8451=
XM_006715410.2:c.25365A>C	XP_006715473.1:p.Arg8455=
XM_006715412.2:c.25350A>C	XP_006715475.1:p.Arg8450=
XM_006715413.2:c.25296A>C	XP_006715476.1:p.Arg8432=
XM_006715415.2:c.25296A>C	XP_006715478.1:p.Arg8432=
XM_006715416.2:c.25281A>C	XP_006715479.1:p.Arg8427=
XM_006715417.2:c.25224A>C	XP_006715480.1:p.Arg8408=
XM_006715420.2:c.25212A>C	XP_006715483.1:p.Arg8404=
XM_006715421.2:c.25209A>C	XP_006715484.1:p.Arg8403=
XM_006715423.2:c.25365A>C	XP_006715486.1:p.Arg8455=
XM_006715424.2:c.25365A>C	XP_006715487.1:p.Arg8455=
XM_006715425.2:c.25296A>C	XP_006715488.1:p.Arg8432=
XM_011535641.2:c.25362A>C	XP_011533943.1:p.Arg8454=
XM_011535642.2:c.25350A>C	XP_011533944.1:p.Arg8450=
XM_011535645.2:c.23133A>C	XP_011533947.1:p.Arg7711=
XM_017010608.1:c.25365A>C	XP_016866097.1:p.Arg8455=
XM_017010609.1:c.25365A>C	XP_016866098.1:p.Arg8455=
XM_017010610.1:c.25344A>C	XP_016866099.1:p.Arg8448=
XM_017010611.2:c.25338A>C	XP_016866100.1:p.Arg8446=
XM_017010612.1:c.25287A>C	XP_016866101.1:p.Arg8429=
XM_017010613.1:c.25293A>C	XP_016866102.1:p.Arg8431=
XM_017010614.1:c.25209A>C	XP_016866103.1:p.Arg8403=
XM_017010615.1:c.25140A>C	XP_016866104.1:p.Arg8380=
XM_017010616.1:c.25296A>C	XP_016866105.1:p.Arg8432=
XM_017010617.1:c.25293A>C	XP_016866106.1:p.Arg8431=
XM_017010618.1:c.25281A>C	XP_016866107.1:p.Arg8427=
XM_017010619.1:c.23640A>C	XP_016866108.1:p.Arg7880=
NM_182961.4:c.25260A>C MANE Select	NP_892006.3:p.Arg8420=
NM_001347701.2:c.1866A>C	NP_001334630.1:p.Arg622=
NM_001347702.2:c.1794A>C MANE Plus Clinical	NP_001334631.1:p.Arg598=
NM_033071.5:c.25116A>C	NP_149062.2:p.Arg8372=