Canonical Allele Identifier: CA366080836

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461257A>C (hg19) ; chr6:g.152140122A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140122A>C , CM000668.2:g.152140122A>C	GRCh38
NC_000006.11:g.152461257A>C , CM000668.1:g.152461257A>C	GRCh37
NC_000006.10:g.152502950A>C	NCBI36
NG_012855.1:g.502278T>G
NG_012855.2:g.502278T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1820T>G MANE Plus Clinical	ENSP00000346701.4:p.Leu607Trp
ENST00000367255.10:c.25286T>G MANE Select	ENSP00000356224.5:p.Leu8429Trp
ENST00000423061.6:c.25142T>G	ENSP00000396024.1:p.Leu8381Trp
ENST00000672154.1:c.688T>G
ENST00000672169.1:c.1021T>G
ENST00000673173.1:c.930T>G
ENST00000673451.1:c.1058T>G	ENSP00000500189.1:p.Leu353Trp
ENST00000341594.9:c.24071T>G	ENSP00000341887.6:p.Leu8024Trp
ENST00000347037.9:n.2034T>G
ENST00000354674.4:c.1820T>G	ENSP00000346701.4:p.Leu607Trp
ENST00000367251.7:c.4121T>G	ENSP00000356220.3:p.Leu1374Trp
ENST00000367255.9:c.25286T>G	ENSP00000356224.5:p.Leu8429Trp
ENST00000367256.9:n.8978T>G
ENST00000367257.8:c.3224T>G	ENSP00000356226.4:p.Leu1075Trp
ENST00000409694.6:n.8870T>G
ENST00000423061.5:c.25142T>G	ENSP00000396024.1:p.Leu8381Trp
ENST00000460912.6:n.1900T>G
ENST00000478916.5:n.4308T>G
ENST00000536990.5:n.2123T>G
ENST00000539504.5:c.1751T>G	ENSP00000441052.1:p.Leu584Trp
NM_033071.3:c.25142T>G	NP_149062.1:p.Leu8381Trp
NM_182961.3:c.25286T>G	NP_892006.3:p.Leu8429Trp
XM_006715407.1:c.25391T>G	XP_006715470.1:p.Leu8464Trp
XM_006715408.1:c.25379T>G	XP_006715471.1:p.Leu8460Trp
XM_006715409.1:c.25370T>G	XP_006715472.1:p.Leu8457Trp
XM_006715410.1:c.25391T>G	XP_006715473.1:p.Leu8464Trp
XM_006715411.1:c.25340T>G	XP_006715474.1:p.Leu8447Trp
XM_006715412.1:c.25376T>G	XP_006715475.1:p.Leu8459Trp
XM_006715413.1:c.25322T>G	XP_006715476.1:p.Leu8441Trp
XM_006715414.1:c.25319T>G	XP_006715477.1:p.Leu8440Trp
XM_006715415.1:c.25322T>G	XP_006715478.1:p.Leu8441Trp
XM_006715416.1:c.25307T>G	XP_006715479.1:p.Leu8436Trp
XM_006715417.1:c.25250T>G	XP_006715480.1:p.Leu8417Trp
XM_006715420.1:c.25238T>G	XP_006715483.1:p.Leu8413Trp
XM_006715421.1:c.25235T>G	XP_006715484.1:p.Leu8412Trp
XM_006715422.1:c.25232T>G	XP_006715485.1:p.Leu8411Trp
XM_006715423.1:c.25391T>G	XP_006715486.1:p.Leu8464Trp
XM_006715424.1:c.25391T>G	XP_006715487.1:p.Leu8464Trp
XM_006715425.1:c.25322T>G	XP_006715488.1:p.Leu8441Trp
XM_011535641.1:c.25388T>G	XP_011533943.1:p.Leu8463Trp
XM_011535642.1:c.25376T>G	XP_011533944.1:p.Leu8459Trp
XM_011535643.1:c.25226T>G	XP_011533945.1:p.Leu8409Trp
XM_011535644.1:c.23666T>G	XP_011533946.1:p.Leu7889Trp
XM_011535645.1:c.23159T>G	XP_011533947.1:p.Leu7720Trp
XM_011535647.1:c.18626T>G	XP_011533949.1:p.Leu6209Trp
NM_001347701.1:c.1892T>G	NP_001334630.1:p.Leu631Trp
NM_001347702.1:c.1820T>G	NP_001334631.1:p.Leu607Trp
XM_006715408.2:c.25379T>G	XP_006715471.1:p.Leu8460Trp
XM_006715410.2:c.25391T>G	XP_006715473.1:p.Leu8464Trp
XM_006715412.2:c.25376T>G	XP_006715475.1:p.Leu8459Trp
XM_006715413.2:c.25322T>G	XP_006715476.1:p.Leu8441Trp
XM_006715415.2:c.25322T>G	XP_006715478.1:p.Leu8441Trp
XM_006715416.2:c.25307T>G	XP_006715479.1:p.Leu8436Trp
XM_006715417.2:c.25250T>G	XP_006715480.1:p.Leu8417Trp
XM_006715420.2:c.25238T>G	XP_006715483.1:p.Leu8413Trp
XM_006715421.2:c.25235T>G	XP_006715484.1:p.Leu8412Trp
XM_006715423.2:c.25391T>G	XP_006715486.1:p.Leu8464Trp
XM_006715424.2:c.25391T>G	XP_006715487.1:p.Leu8464Trp
XM_006715425.2:c.25322T>G	XP_006715488.1:p.Leu8441Trp
XM_011535641.2:c.25388T>G	XP_011533943.1:p.Leu8463Trp
XM_011535642.2:c.25376T>G	XP_011533944.1:p.Leu8459Trp
XM_011535645.2:c.23159T>G	XP_011533947.1:p.Leu7720Trp
XM_017010608.1:c.25391T>G	XP_016866097.1:p.Leu8464Trp
XM_017010609.1:c.25391T>G	XP_016866098.1:p.Leu8464Trp
XM_017010610.1:c.25370T>G	XP_016866099.1:p.Leu8457Trp
XM_017010611.2:c.25364T>G	XP_016866100.1:p.Leu8455Trp
XM_017010612.1:c.25313T>G	XP_016866101.1:p.Leu8438Trp
XM_017010613.1:c.25319T>G	XP_016866102.1:p.Leu8440Trp
XM_017010614.1:c.25235T>G	XP_016866103.1:p.Leu8412Trp
XM_017010615.1:c.25166T>G	XP_016866104.1:p.Leu8389Trp
XM_017010616.1:c.25322T>G	XP_016866105.1:p.Leu8441Trp
XM_017010617.1:c.25319T>G	XP_016866106.1:p.Leu8440Trp
XM_017010618.1:c.25307T>G	XP_016866107.1:p.Leu8436Trp
XM_017010619.1:c.23666T>G	XP_016866108.1:p.Leu7889Trp
NM_182961.4:c.25286T>G MANE Select	NP_892006.3:p.Leu8429Trp
NM_001347701.2:c.1892T>G	NP_001334630.1:p.Leu631Trp
NM_001347702.2:c.1820T>G MANE Plus Clinical	NP_001334631.1:p.Leu607Trp
NM_033071.5:c.25142T>G	NP_149062.2:p.Leu8381Trp