Canonical Allele Identifier: CA366080752

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461243T>A (hg19) ; chr6:g.152140108T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140108T>A , CM000668.2:g.152140108T>A	GRCh38
NC_000006.11:g.152461243T>A , CM000668.1:g.152461243T>A	GRCh37
NC_000006.10:g.152502936T>A	NCBI36
NG_012855.1:g.502292A>T
NG_012855.2:g.502292A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1834A>T MANE Plus Clinical	ENSP00000346701.4:p.Arg612Trp
ENST00000367255.10:c.25300A>T MANE Select	ENSP00000356224.5:p.Arg8434Trp
ENST00000423061.6:c.25156A>T	ENSP00000396024.1:p.Arg8386Trp
ENST00000672154.1:c.702A>T
ENST00000672169.1:c.1035A>T
ENST00000673173.1:c.944A>T
ENST00000673451.1:c.1072A>T	ENSP00000500189.1:p.Arg358Trp
ENST00000341594.9:c.24085A>T	ENSP00000341887.6:p.Arg8029Trp
ENST00000347037.9:n.2048A>T
ENST00000354674.4:c.1834A>T	ENSP00000346701.4:p.Arg612Trp
ENST00000367251.7:c.4135A>T	ENSP00000356220.3:p.Arg1379Trp
ENST00000367255.9:c.25300A>T	ENSP00000356224.5:p.Arg8434Trp
ENST00000367256.9:n.8992A>T
ENST00000367257.8:c.3238A>T	ENSP00000356226.4:p.Arg1080Trp
ENST00000409694.6:n.8884A>T
ENST00000423061.5:c.25156A>T	ENSP00000396024.1:p.Arg8386Trp
ENST00000460912.6:n.1914A>T
ENST00000478916.5:n.4322A>T
ENST00000536990.5:n.2137A>T
ENST00000539504.5:c.1765A>T	ENSP00000441052.1:p.Arg589Trp
NM_033071.3:c.25156A>T	NP_149062.1:p.Arg8386Trp
NM_182961.3:c.25300A>T	NP_892006.3:p.Arg8434Trp
XM_006715407.1:c.25405A>T	XP_006715470.1:p.Arg8469Trp
XM_006715408.1:c.25393A>T	XP_006715471.1:p.Arg8465Trp
XM_006715409.1:c.25384A>T	XP_006715472.1:p.Arg8462Trp
XM_006715410.1:c.25405A>T	XP_006715473.1:p.Arg8469Trp
XM_006715411.1:c.25354A>T	XP_006715474.1:p.Arg8452Trp
XM_006715412.1:c.25390A>T	XP_006715475.1:p.Arg8464Trp
XM_006715413.1:c.25336A>T	XP_006715476.1:p.Arg8446Trp
XM_006715414.1:c.25333A>T	XP_006715477.1:p.Arg8445Trp
XM_006715415.1:c.25336A>T	XP_006715478.1:p.Arg8446Trp
XM_006715416.1:c.25321A>T	XP_006715479.1:p.Arg8441Trp
XM_006715417.1:c.25264A>T	XP_006715480.1:p.Arg8422Trp
XM_006715420.1:c.25252A>T	XP_006715483.1:p.Arg8418Trp
XM_006715421.1:c.25249A>T	XP_006715484.1:p.Arg8417Trp
XM_006715422.1:c.25246A>T	XP_006715485.1:p.Arg8416Trp
XM_006715423.1:c.25405A>T	XP_006715486.1:p.Arg8469Trp
XM_006715424.1:c.25405A>T	XP_006715487.1:p.Arg8469Trp
XM_006715425.1:c.25336A>T	XP_006715488.1:p.Arg8446Trp
XM_011535641.1:c.25402A>T	XP_011533943.1:p.Arg8468Trp
XM_011535642.1:c.25390A>T	XP_011533944.1:p.Arg8464Trp
XM_011535643.1:c.25240A>T	XP_011533945.1:p.Arg8414Trp
XM_011535644.1:c.23680A>T	XP_011533946.1:p.Arg7894Trp
XM_011535645.1:c.23173A>T	XP_011533947.1:p.Arg7725Trp
XM_011535647.1:c.18640A>T	XP_011533949.1:p.Arg6214Trp
NM_001347701.1:c.1906A>T	NP_001334630.1:p.Arg636Trp
NM_001347702.1:c.1834A>T	NP_001334631.1:p.Arg612Trp
XM_006715408.2:c.25393A>T	XP_006715471.1:p.Arg8465Trp
XM_006715410.2:c.25405A>T	XP_006715473.1:p.Arg8469Trp
XM_006715412.2:c.25390A>T	XP_006715475.1:p.Arg8464Trp
XM_006715413.2:c.25336A>T	XP_006715476.1:p.Arg8446Trp
XM_006715415.2:c.25336A>T	XP_006715478.1:p.Arg8446Trp
XM_006715416.2:c.25321A>T	XP_006715479.1:p.Arg8441Trp
XM_006715417.2:c.25264A>T	XP_006715480.1:p.Arg8422Trp
XM_006715420.2:c.25252A>T	XP_006715483.1:p.Arg8418Trp
XM_006715421.2:c.25249A>T	XP_006715484.1:p.Arg8417Trp
XM_006715423.2:c.25405A>T	XP_006715486.1:p.Arg8469Trp
XM_006715424.2:c.25405A>T	XP_006715487.1:p.Arg8469Trp
XM_006715425.2:c.25336A>T	XP_006715488.1:p.Arg8446Trp
XM_011535641.2:c.25402A>T	XP_011533943.1:p.Arg8468Trp
XM_011535642.2:c.25390A>T	XP_011533944.1:p.Arg8464Trp
XM_011535645.2:c.23173A>T	XP_011533947.1:p.Arg7725Trp
XM_017010608.1:c.25405A>T	XP_016866097.1:p.Arg8469Trp
XM_017010609.1:c.25405A>T	XP_016866098.1:p.Arg8469Trp
XM_017010610.1:c.25384A>T	XP_016866099.1:p.Arg8462Trp
XM_017010611.2:c.25378A>T	XP_016866100.1:p.Arg8460Trp
XM_017010612.1:c.25327A>T	XP_016866101.1:p.Arg8443Trp
XM_017010613.1:c.25333A>T	XP_016866102.1:p.Arg8445Trp
XM_017010614.1:c.25249A>T	XP_016866103.1:p.Arg8417Trp
XM_017010615.1:c.25180A>T	XP_016866104.1:p.Arg8394Trp
XM_017010616.1:c.25336A>T	XP_016866105.1:p.Arg8446Trp
XM_017010617.1:c.25333A>T	XP_016866106.1:p.Arg8445Trp
XM_017010618.1:c.25321A>T	XP_016866107.1:p.Arg8441Trp
XM_017010619.1:c.23680A>T	XP_016866108.1:p.Arg7894Trp
NM_182961.4:c.25300A>T MANE Select	NP_892006.3:p.Arg8434Trp
NM_001347701.2:c.1906A>T	NP_001334630.1:p.Arg636Trp
NM_001347702.2:c.1834A>T MANE Plus Clinical	NP_001334631.1:p.Arg612Trp
NM_033071.5:c.25156A>T	NP_149062.2:p.Arg8386Trp