Canonical Allele Identifier: CA366080104

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461134T>A (hg19) ; chr6:g.152139999T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152139999T>A , CM000668.2:g.152139999T>A	GRCh38
NC_000006.11:g.152461134T>A , CM000668.1:g.152461134T>A	GRCh37
NC_000006.10:g.152502827T>A	NCBI36
NG_012855.1:g.502401A>T
NG_012855.2:g.502401A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1943A>T MANE Plus Clinical	ENSP00000346701.4:p.Glu648Val
ENST00000367255.10:c.25409A>T MANE Select	ENSP00000356224.5:p.Glu8470Val
ENST00000423061.6:c.25265A>T	ENSP00000396024.1:p.Glu8422Val
ENST00000672154.1:c.811A>T
ENST00000672169.1:c.1144A>T
ENST00000673173.1:c.1053A>T
ENST00000673451.1:c.1181A>T	ENSP00000500189.1:p.Glu394Val
ENST00000341594.9:c.24194A>T	ENSP00000341887.6:p.Glu8065Val
ENST00000347037.9:n.2157A>T
ENST00000354674.4:c.1943A>T	ENSP00000346701.4:p.Glu648Val
ENST00000367251.7:c.4244A>T	ENSP00000356220.3:p.Glu1415Val
ENST00000367255.9:c.25409A>T	ENSP00000356224.5:p.Glu8470Val
ENST00000367256.9:n.9101A>T
ENST00000367257.8:c.3347A>T	ENSP00000356226.4:p.Glu1116Val
ENST00000409694.6:n.8993A>T
ENST00000423061.5:c.25265A>T	ENSP00000396024.1:p.Glu8422Val
ENST00000460912.6:n.2023A>T
ENST00000478916.5:n.4431A>T
ENST00000536990.5:n.2246A>T
ENST00000539504.5:c.1874A>T	ENSP00000441052.1:p.Glu625Val
NM_033071.3:c.25265A>T	NP_149062.1:p.Glu8422Val
NM_182961.3:c.25409A>T	NP_892006.3:p.Glu8470Val
XM_006715407.1:c.25514A>T	XP_006715470.1:p.Glu8505Val
XM_006715408.1:c.25502A>T	XP_006715471.1:p.Glu8501Val
XM_006715409.1:c.25493A>T	XP_006715472.1:p.Glu8498Val
XM_006715410.1:c.25514A>T	XP_006715473.1:p.Glu8505Val
XM_006715411.1:c.25463A>T	XP_006715474.1:p.Glu8488Val
XM_006715412.1:c.25499A>T	XP_006715475.1:p.Glu8500Val
XM_006715413.1:c.25445A>T	XP_006715476.1:p.Glu8482Val
XM_006715414.1:c.25442A>T	XP_006715477.1:p.Glu8481Val
XM_006715415.1:c.25445A>T	XP_006715478.1:p.Glu8482Val
XM_006715416.1:c.25430A>T	XP_006715479.1:p.Glu8477Val
XM_006715417.1:c.25373A>T	XP_006715480.1:p.Glu8458Val
XM_006715420.1:c.25361A>T	XP_006715483.1:p.Glu8454Val
XM_006715421.1:c.25358A>T	XP_006715484.1:p.Glu8453Val
XM_006715422.1:c.25355A>T	XP_006715485.1:p.Glu8452Val
XM_006715423.1:c.25514A>T	XP_006715486.1:p.Glu8505Val
XM_006715424.1:c.25514A>T	XP_006715487.1:p.Glu8505Val
XM_006715425.1:c.25445A>T	XP_006715488.1:p.Glu8482Val
XM_011535641.1:c.25511A>T	XP_011533943.1:p.Glu8504Val
XM_011535642.1:c.25499A>T	XP_011533944.1:p.Glu8500Val
XM_011535643.1:c.25349A>T	XP_011533945.1:p.Glu8450Val
XM_011535644.1:c.23789A>T	XP_011533946.1:p.Glu7930Val
XM_011535645.1:c.23282A>T	XP_011533947.1:p.Glu7761Val
XM_011535647.1:c.18749A>T	XP_011533949.1:p.Glu6250Val
NM_001347701.1:c.2015A>T	NP_001334630.1:p.Glu672Val
NM_001347702.1:c.1943A>T	NP_001334631.1:p.Glu648Val
XM_006715408.2:c.25502A>T	XP_006715471.1:p.Glu8501Val
XM_006715410.2:c.25514A>T	XP_006715473.1:p.Glu8505Val
XM_006715412.2:c.25499A>T	XP_006715475.1:p.Glu8500Val
XM_006715413.2:c.25445A>T	XP_006715476.1:p.Glu8482Val
XM_006715415.2:c.25445A>T	XP_006715478.1:p.Glu8482Val
XM_006715416.2:c.25430A>T	XP_006715479.1:p.Glu8477Val
XM_006715417.2:c.25373A>T	XP_006715480.1:p.Glu8458Val
XM_006715420.2:c.25361A>T	XP_006715483.1:p.Glu8454Val
XM_006715421.2:c.25358A>T	XP_006715484.1:p.Glu8453Val
XM_006715423.2:c.25514A>T	XP_006715486.1:p.Glu8505Val
XM_006715424.2:c.25514A>T	XP_006715487.1:p.Glu8505Val
XM_006715425.2:c.25445A>T	XP_006715488.1:p.Glu8482Val
XM_011535641.2:c.25511A>T	XP_011533943.1:p.Glu8504Val
XM_011535642.2:c.25499A>T	XP_011533944.1:p.Glu8500Val
XM_011535645.2:c.23282A>T	XP_011533947.1:p.Glu7761Val
XM_017010608.1:c.25514A>T	XP_016866097.1:p.Glu8505Val
XM_017010609.1:c.25514A>T	XP_016866098.1:p.Glu8505Val
XM_017010610.1:c.25493A>T	XP_016866099.1:p.Glu8498Val
XM_017010611.2:c.25487A>T	XP_016866100.1:p.Glu8496Val
XM_017010612.1:c.25436A>T	XP_016866101.1:p.Glu8479Val
XM_017010613.1:c.25442A>T	XP_016866102.1:p.Glu8481Val
XM_017010614.1:c.25358A>T	XP_016866103.1:p.Glu8453Val
XM_017010615.1:c.25289A>T	XP_016866104.1:p.Glu8430Val
XM_017010616.1:c.25445A>T	XP_016866105.1:p.Glu8482Val
XM_017010617.1:c.25442A>T	XP_016866106.1:p.Glu8481Val
XM_017010618.1:c.25430A>T	XP_016866107.1:p.Glu8477Val
XM_017010619.1:c.23789A>T	XP_016866108.1:p.Glu7930Val
NM_182961.4:c.25409A>T MANE Select	NP_892006.3:p.Glu8470Val
NM_001347701.2:c.2015A>T	NP_001334630.1:p.Glu672Val
NM_001347702.2:c.1943A>T MANE Plus Clinical	NP_001334631.1:p.Glu648Val
NM_033071.5:c.25265A>T	NP_149062.2:p.Glu8422Val