Canonical Allele Identifier: CA366083315

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464882T>C (hg19) ; chr6:g.152143747T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143747T>C , CM000668.2:g.152143747T>C	GRCh38
NC_000006.11:g.152464882T>C , CM000668.1:g.152464882T>C	GRCh37
NC_000006.10:g.152506575T>C	NCBI36
NG_012855.1:g.498653A>G
NG_012855.2:g.498653A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1529A>G MANE Plus Clinical	ENSP00000346701.4:p.Glu510Gly
ENST00000367255.10:c.24995A>G MANE Select	ENSP00000356224.5:p.Glu8332Gly
ENST00000423061.6:c.24851A>G	ENSP00000396024.1:p.Glu8284Gly
ENST00000672154.1:c.397A>G
ENST00000672169.1:c.730A>G
ENST00000673173.1:c.891-3586A>G
ENST00000673451.1:c.767A>G	ENSP00000500189.1:p.Glu256Gly
ENST00000341594.9:c.23780A>G	ENSP00000341887.6:p.Glu7927Gly
ENST00000347037.9:n.1743A>G
ENST00000354674.4:c.1529A>G	ENSP00000346701.4:p.Glu510Gly
ENST00000367251.7:c.3830A>G	ENSP00000356220.3:p.Glu1277Gly
ENST00000367255.9:c.24995A>G	ENSP00000356224.5:p.Glu8332Gly
ENST00000367256.9:n.8687A>G
ENST00000367257.8:c.2933A>G	ENSP00000356226.4:p.Glu978Gly
ENST00000409694.6:n.8579A>G
ENST00000423061.5:c.24851A>G	ENSP00000396024.1:p.Glu8284Gly
ENST00000460912.6:n.1609A>G
ENST00000478916.5:n.4017A>G
ENST00000536990.5:n.1832A>G
ENST00000539504.5:c.1460A>G	ENSP00000441052.1:p.Glu487Gly
NM_033071.3:c.24851A>G	NP_149062.1:p.Glu8284Gly
NM_182961.3:c.24995A>G	NP_892006.3:p.Glu8332Gly
XM_006715407.1:c.25100A>G	XP_006715470.1:p.Glu8367Gly
XM_006715408.1:c.25088A>G	XP_006715471.1:p.Glu8363Gly
XM_006715409.1:c.25079A>G	XP_006715472.1:p.Glu8360Gly
XM_006715410.1:c.25100A>G	XP_006715473.1:p.Glu8367Gly
XM_006715411.1:c.25049A>G	XP_006715474.1:p.Glu8350Gly
XM_006715412.1:c.25085A>G	XP_006715475.1:p.Glu8362Gly
XM_006715413.1:c.25031A>G	XP_006715476.1:p.Glu8344Gly
XM_006715414.1:c.25028A>G	XP_006715477.1:p.Glu8343Gly
XM_006715415.1:c.25031A>G	XP_006715478.1:p.Glu8344Gly
XM_006715416.1:c.25016A>G	XP_006715479.1:p.Glu8339Gly
XM_006715417.1:c.24959A>G	XP_006715480.1:p.Glu8320Gly
XM_006715420.1:c.24947A>G	XP_006715483.1:p.Glu8316Gly
XM_006715421.1:c.24944A>G	XP_006715484.1:p.Glu8315Gly
XM_006715422.1:c.24941A>G	XP_006715485.1:p.Glu8314Gly
XM_006715423.1:c.25100A>G	XP_006715486.1:p.Glu8367Gly
XM_006715424.1:c.25100A>G	XP_006715487.1:p.Glu8367Gly
XM_006715425.1:c.25031A>G	XP_006715488.1:p.Glu8344Gly
XM_011535641.1:c.25097A>G	XP_011533943.1:p.Glu8366Gly
XM_011535642.1:c.25085A>G	XP_011533944.1:p.Glu8362Gly
XM_011535643.1:c.24935A>G	XP_011533945.1:p.Glu8312Gly
XM_011535644.1:c.23375A>G	XP_011533946.1:p.Glu7792Gly
XM_011535645.1:c.22868A>G	XP_011533947.1:p.Glu7623Gly
XM_011535647.1:c.18335A>G	XP_011533949.1:p.Glu6112Gly
NM_001347701.1:c.1601A>G	NP_001334630.1:p.Glu534Gly
NM_001347702.1:c.1529A>G	NP_001334631.1:p.Glu510Gly
XM_006715408.2:c.25088A>G	XP_006715471.1:p.Glu8363Gly
XM_006715410.2:c.25100A>G	XP_006715473.1:p.Glu8367Gly
XM_006715412.2:c.25085A>G	XP_006715475.1:p.Glu8362Gly
XM_006715413.2:c.25031A>G	XP_006715476.1:p.Glu8344Gly
XM_006715415.2:c.25031A>G	XP_006715478.1:p.Glu8344Gly
XM_006715416.2:c.25016A>G	XP_006715479.1:p.Glu8339Gly
XM_006715417.2:c.24959A>G	XP_006715480.1:p.Glu8320Gly
XM_006715420.2:c.24947A>G	XP_006715483.1:p.Glu8316Gly
XM_006715421.2:c.24944A>G	XP_006715484.1:p.Glu8315Gly
XM_006715423.2:c.25100A>G	XP_006715486.1:p.Glu8367Gly
XM_006715424.2:c.25100A>G	XP_006715487.1:p.Glu8367Gly
XM_006715425.2:c.25031A>G	XP_006715488.1:p.Glu8344Gly
XM_011535641.2:c.25097A>G	XP_011533943.1:p.Glu8366Gly
XM_011535642.2:c.25085A>G	XP_011533944.1:p.Glu8362Gly
XM_011535645.2:c.22868A>G	XP_011533947.1:p.Glu7623Gly
XM_017010608.1:c.25100A>G	XP_016866097.1:p.Glu8367Gly
XM_017010609.1:c.25100A>G	XP_016866098.1:p.Glu8367Gly
XM_017010610.1:c.25079A>G	XP_016866099.1:p.Glu8360Gly
XM_017010611.2:c.25073A>G	XP_016866100.1:p.Glu8358Gly
XM_017010612.1:c.25022A>G	XP_016866101.1:p.Glu8341Gly
XM_017010613.1:c.25028A>G	XP_016866102.1:p.Glu8343Gly
XM_017010614.1:c.24944A>G	XP_016866103.1:p.Glu8315Gly
XM_017010615.1:c.24875A>G	XP_016866104.1:p.Glu8292Gly
XM_017010616.1:c.25031A>G	XP_016866105.1:p.Glu8344Gly
XM_017010617.1:c.25028A>G	XP_016866106.1:p.Glu8343Gly
XM_017010618.1:c.25016A>G	XP_016866107.1:p.Glu8339Gly
XM_017010619.1:c.23375A>G	XP_016866108.1:p.Glu7792Gly
NM_182961.4:c.24995A>G MANE Select	NP_892006.3:p.Glu8332Gly
NM_001347701.2:c.1601A>G	NP_001334630.1:p.Glu534Gly
NM_001347702.2:c.1529A>G MANE Plus Clinical	NP_001334631.1:p.Glu510Gly
NM_033071.5:c.24851A>G	NP_149062.2:p.Glu8284Gly