Canonical Allele Identifier: CA366080122

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461140C>G (hg19) ; chr6:g.152140005C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140005C>G , CM000668.2:g.152140005C>G	GRCh38
NC_000006.11:g.152461140C>G , CM000668.1:g.152461140C>G	GRCh37
NC_000006.10:g.152502833C>G	NCBI36
NG_012855.1:g.502395G>C
NG_012855.2:g.502395G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1937G>C MANE Plus Clinical	ENSP00000346701.4:p.Arg646Pro
ENST00000367255.10:c.25403G>C MANE Select	ENSP00000356224.5:p.Arg8468Pro
ENST00000423061.6:c.25259G>C	ENSP00000396024.1:p.Arg8420Pro
ENST00000672154.1:c.805G>C
ENST00000672169.1:c.1138G>C
ENST00000673173.1:c.1047G>C
ENST00000673451.1:c.1175G>C	ENSP00000500189.1:p.Arg392Pro
ENST00000341594.9:c.24188G>C	ENSP00000341887.6:p.Arg8063Pro
ENST00000347037.9:n.2151G>C
ENST00000354674.4:c.1937G>C	ENSP00000346701.4:p.Arg646Pro
ENST00000367251.7:c.4238G>C	ENSP00000356220.3:p.Arg1413Pro
ENST00000367255.9:c.25403G>C	ENSP00000356224.5:p.Arg8468Pro
ENST00000367256.9:n.9095G>C
ENST00000367257.8:c.3341G>C	ENSP00000356226.4:p.Arg1114Pro
ENST00000409694.6:n.8987G>C
ENST00000423061.5:c.25259G>C	ENSP00000396024.1:p.Arg8420Pro
ENST00000460912.6:n.2017G>C
ENST00000478916.5:n.4425G>C
ENST00000536990.5:n.2240G>C
ENST00000539504.5:c.1868G>C	ENSP00000441052.1:p.Arg623Pro
NM_033071.3:c.25259G>C	NP_149062.1:p.Arg8420Pro
NM_182961.3:c.25403G>C	NP_892006.3:p.Arg8468Pro
XM_006715407.1:c.25508G>C	XP_006715470.1:p.Arg8503Pro
XM_006715408.1:c.25496G>C	XP_006715471.1:p.Arg8499Pro
XM_006715409.1:c.25487G>C	XP_006715472.1:p.Arg8496Pro
XM_006715410.1:c.25508G>C	XP_006715473.1:p.Arg8503Pro
XM_006715411.1:c.25457G>C	XP_006715474.1:p.Arg8486Pro
XM_006715412.1:c.25493G>C	XP_006715475.1:p.Arg8498Pro
XM_006715413.1:c.25439G>C	XP_006715476.1:p.Arg8480Pro
XM_006715414.1:c.25436G>C	XP_006715477.1:p.Arg8479Pro
XM_006715415.1:c.25439G>C	XP_006715478.1:p.Arg8480Pro
XM_006715416.1:c.25424G>C	XP_006715479.1:p.Arg8475Pro
XM_006715417.1:c.25367G>C	XP_006715480.1:p.Arg8456Pro
XM_006715420.1:c.25355G>C	XP_006715483.1:p.Arg8452Pro
XM_006715421.1:c.25352G>C	XP_006715484.1:p.Arg8451Pro
XM_006715422.1:c.25349G>C	XP_006715485.1:p.Arg8450Pro
XM_006715423.1:c.25508G>C	XP_006715486.1:p.Arg8503Pro
XM_006715424.1:c.25508G>C	XP_006715487.1:p.Arg8503Pro
XM_006715425.1:c.25439G>C	XP_006715488.1:p.Arg8480Pro
XM_011535641.1:c.25505G>C	XP_011533943.1:p.Arg8502Pro
XM_011535642.1:c.25493G>C	XP_011533944.1:p.Arg8498Pro
XM_011535643.1:c.25343G>C	XP_011533945.1:p.Arg8448Pro
XM_011535644.1:c.23783G>C	XP_011533946.1:p.Arg7928Pro
XM_011535645.1:c.23276G>C	XP_011533947.1:p.Arg7759Pro
XM_011535647.1:c.18743G>C	XP_011533949.1:p.Arg6248Pro
NM_001347701.1:c.2009G>C	NP_001334630.1:p.Arg670Pro
NM_001347702.1:c.1937G>C	NP_001334631.1:p.Arg646Pro
XM_006715408.2:c.25496G>C	XP_006715471.1:p.Arg8499Pro
XM_006715410.2:c.25508G>C	XP_006715473.1:p.Arg8503Pro
XM_006715412.2:c.25493G>C	XP_006715475.1:p.Arg8498Pro
XM_006715413.2:c.25439G>C	XP_006715476.1:p.Arg8480Pro
XM_006715415.2:c.25439G>C	XP_006715478.1:p.Arg8480Pro
XM_006715416.2:c.25424G>C	XP_006715479.1:p.Arg8475Pro
XM_006715417.2:c.25367G>C	XP_006715480.1:p.Arg8456Pro
XM_006715420.2:c.25355G>C	XP_006715483.1:p.Arg8452Pro
XM_006715421.2:c.25352G>C	XP_006715484.1:p.Arg8451Pro
XM_006715423.2:c.25508G>C	XP_006715486.1:p.Arg8503Pro
XM_006715424.2:c.25508G>C	XP_006715487.1:p.Arg8503Pro
XM_006715425.2:c.25439G>C	XP_006715488.1:p.Arg8480Pro
XM_011535641.2:c.25505G>C	XP_011533943.1:p.Arg8502Pro
XM_011535642.2:c.25493G>C	XP_011533944.1:p.Arg8498Pro
XM_011535645.2:c.23276G>C	XP_011533947.1:p.Arg7759Pro
XM_017010608.1:c.25508G>C	XP_016866097.1:p.Arg8503Pro
XM_017010609.1:c.25508G>C	XP_016866098.1:p.Arg8503Pro
XM_017010610.1:c.25487G>C	XP_016866099.1:p.Arg8496Pro
XM_017010611.2:c.25481G>C	XP_016866100.1:p.Arg8494Pro
XM_017010612.1:c.25430G>C	XP_016866101.1:p.Arg8477Pro
XM_017010613.1:c.25436G>C	XP_016866102.1:p.Arg8479Pro
XM_017010614.1:c.25352G>C	XP_016866103.1:p.Arg8451Pro
XM_017010615.1:c.25283G>C	XP_016866104.1:p.Arg8428Pro
XM_017010616.1:c.25439G>C	XP_016866105.1:p.Arg8480Pro
XM_017010617.1:c.25436G>C	XP_016866106.1:p.Arg8479Pro
XM_017010618.1:c.25424G>C	XP_016866107.1:p.Arg8475Pro
XM_017010619.1:c.23783G>C	XP_016866108.1:p.Arg7928Pro
NM_182961.4:c.25403G>C MANE Select	NP_892006.3:p.Arg8468Pro
NM_001347701.2:c.2009G>C	NP_001334630.1:p.Arg670Pro
NM_001347702.2:c.1937G>C MANE Plus Clinical	NP_001334631.1:p.Arg646Pro
NM_033071.5:c.25259G>C	NP_149062.2:p.Arg8420Pro