Canonical Allele Identifier: CA366080621

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461227A>C (hg19) ; chr6:g.152140092A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140092A>C , CM000668.2:g.152140092A>C	GRCh38
NC_000006.11:g.152461227A>C , CM000668.1:g.152461227A>C	GRCh37
NC_000006.10:g.152502920A>C	NCBI36
NG_012855.1:g.502308T>G
NG_012855.2:g.502308T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1850T>G MANE Plus Clinical	ENSP00000346701.4:p.Leu617Arg
ENST00000367255.10:c.25316T>G MANE Select	ENSP00000356224.5:p.Leu8439Arg
ENST00000423061.6:c.25172T>G	ENSP00000396024.1:p.Leu8391Arg
ENST00000672154.1:c.718T>G
ENST00000672169.1:c.1051T>G
ENST00000673173.1:c.960T>G
ENST00000673451.1:c.1088T>G	ENSP00000500189.1:p.Leu363Arg
ENST00000341594.9:c.24101T>G	ENSP00000341887.6:p.Leu8034Arg
ENST00000347037.9:n.2064T>G
ENST00000354674.4:c.1850T>G	ENSP00000346701.4:p.Leu617Arg
ENST00000367251.7:c.4151T>G	ENSP00000356220.3:p.Leu1384Arg
ENST00000367255.9:c.25316T>G	ENSP00000356224.5:p.Leu8439Arg
ENST00000367256.9:n.9008T>G
ENST00000367257.8:c.3254T>G	ENSP00000356226.4:p.Leu1085Arg
ENST00000409694.6:n.8900T>G
ENST00000423061.5:c.25172T>G	ENSP00000396024.1:p.Leu8391Arg
ENST00000460912.6:n.1930T>G
ENST00000478916.5:n.4338T>G
ENST00000536990.5:n.2153T>G
ENST00000539504.5:c.1781T>G	ENSP00000441052.1:p.Leu594Arg
NM_033071.3:c.25172T>G	NP_149062.1:p.Leu8391Arg
NM_182961.3:c.25316T>G	NP_892006.3:p.Leu8439Arg
XM_006715407.1:c.25421T>G	XP_006715470.1:p.Leu8474Arg
XM_006715408.1:c.25409T>G	XP_006715471.1:p.Leu8470Arg
XM_006715409.1:c.25400T>G	XP_006715472.1:p.Leu8467Arg
XM_006715410.1:c.25421T>G	XP_006715473.1:p.Leu8474Arg
XM_006715411.1:c.25370T>G	XP_006715474.1:p.Leu8457Arg
XM_006715412.1:c.25406T>G	XP_006715475.1:p.Leu8469Arg
XM_006715413.1:c.25352T>G	XP_006715476.1:p.Leu8451Arg
XM_006715414.1:c.25349T>G	XP_006715477.1:p.Leu8450Arg
XM_006715415.1:c.25352T>G	XP_006715478.1:p.Leu8451Arg
XM_006715416.1:c.25337T>G	XP_006715479.1:p.Leu8446Arg
XM_006715417.1:c.25280T>G	XP_006715480.1:p.Leu8427Arg
XM_006715420.1:c.25268T>G	XP_006715483.1:p.Leu8423Arg
XM_006715421.1:c.25265T>G	XP_006715484.1:p.Leu8422Arg
XM_006715422.1:c.25262T>G	XP_006715485.1:p.Leu8421Arg
XM_006715423.1:c.25421T>G	XP_006715486.1:p.Leu8474Arg
XM_006715424.1:c.25421T>G	XP_006715487.1:p.Leu8474Arg
XM_006715425.1:c.25352T>G	XP_006715488.1:p.Leu8451Arg
XM_011535641.1:c.25418T>G	XP_011533943.1:p.Leu8473Arg
XM_011535642.1:c.25406T>G	XP_011533944.1:p.Leu8469Arg
XM_011535643.1:c.25256T>G	XP_011533945.1:p.Leu8419Arg
XM_011535644.1:c.23696T>G	XP_011533946.1:p.Leu7899Arg
XM_011535645.1:c.23189T>G	XP_011533947.1:p.Leu7730Arg
XM_011535647.1:c.18656T>G	XP_011533949.1:p.Leu6219Arg
NM_001347701.1:c.1922T>G	NP_001334630.1:p.Leu641Arg
NM_001347702.1:c.1850T>G	NP_001334631.1:p.Leu617Arg
XM_006715408.2:c.25409T>G	XP_006715471.1:p.Leu8470Arg
XM_006715410.2:c.25421T>G	XP_006715473.1:p.Leu8474Arg
XM_006715412.2:c.25406T>G	XP_006715475.1:p.Leu8469Arg
XM_006715413.2:c.25352T>G	XP_006715476.1:p.Leu8451Arg
XM_006715415.2:c.25352T>G	XP_006715478.1:p.Leu8451Arg
XM_006715416.2:c.25337T>G	XP_006715479.1:p.Leu8446Arg
XM_006715417.2:c.25280T>G	XP_006715480.1:p.Leu8427Arg
XM_006715420.2:c.25268T>G	XP_006715483.1:p.Leu8423Arg
XM_006715421.2:c.25265T>G	XP_006715484.1:p.Leu8422Arg
XM_006715423.2:c.25421T>G	XP_006715486.1:p.Leu8474Arg
XM_006715424.2:c.25421T>G	XP_006715487.1:p.Leu8474Arg
XM_006715425.2:c.25352T>G	XP_006715488.1:p.Leu8451Arg
XM_011535641.2:c.25418T>G	XP_011533943.1:p.Leu8473Arg
XM_011535642.2:c.25406T>G	XP_011533944.1:p.Leu8469Arg
XM_011535645.2:c.23189T>G	XP_011533947.1:p.Leu7730Arg
XM_017010608.1:c.25421T>G	XP_016866097.1:p.Leu8474Arg
XM_017010609.1:c.25421T>G	XP_016866098.1:p.Leu8474Arg
XM_017010610.1:c.25400T>G	XP_016866099.1:p.Leu8467Arg
XM_017010611.2:c.25394T>G	XP_016866100.1:p.Leu8465Arg
XM_017010612.1:c.25343T>G	XP_016866101.1:p.Leu8448Arg
XM_017010613.1:c.25349T>G	XP_016866102.1:p.Leu8450Arg
XM_017010614.1:c.25265T>G	XP_016866103.1:p.Leu8422Arg
XM_017010615.1:c.25196T>G	XP_016866104.1:p.Leu8399Arg
XM_017010616.1:c.25352T>G	XP_016866105.1:p.Leu8451Arg
XM_017010617.1:c.25349T>G	XP_016866106.1:p.Leu8450Arg
XM_017010618.1:c.25337T>G	XP_016866107.1:p.Leu8446Arg
XM_017010619.1:c.23696T>G	XP_016866108.1:p.Leu7899Arg
NM_182961.4:c.25316T>G MANE Select	NP_892006.3:p.Leu8439Arg
NM_001347701.2:c.1922T>G	NP_001334630.1:p.Leu641Arg
NM_001347702.2:c.1850T>G MANE Plus Clinical	NP_001334631.1:p.Leu617Arg
NM_033071.5:c.25172T>G	NP_149062.2:p.Leu8391Arg