Canonical Allele Identifier: CA366080638

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461230T>A (hg19) ; chr6:g.152140095T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140095T>A , CM000668.2:g.152140095T>A	GRCh38
NC_000006.11:g.152461230T>A , CM000668.1:g.152461230T>A	GRCh37
NC_000006.10:g.152502923T>A	NCBI36
NG_012855.1:g.502305A>T
NG_012855.2:g.502305A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1847A>T MANE Plus Clinical	ENSP00000346701.4:p.Asn616Ile
ENST00000367255.10:c.25313A>T MANE Select	ENSP00000356224.5:p.Asn8438Ile
ENST00000423061.6:c.25169A>T	ENSP00000396024.1:p.Asn8390Ile
ENST00000672154.1:c.715A>T
ENST00000672169.1:c.1048A>T
ENST00000673173.1:c.957A>T
ENST00000673451.1:c.1085A>T	ENSP00000500189.1:p.Asn362Ile
ENST00000341594.9:c.24098A>T	ENSP00000341887.6:p.Asn8033Ile
ENST00000347037.9:n.2061A>T
ENST00000354674.4:c.1847A>T	ENSP00000346701.4:p.Asn616Ile
ENST00000367251.7:c.4148A>T	ENSP00000356220.3:p.Asn1383Ile
ENST00000367255.9:c.25313A>T	ENSP00000356224.5:p.Asn8438Ile
ENST00000367256.9:n.9005A>T
ENST00000367257.8:c.3251A>T	ENSP00000356226.4:p.Asn1084Ile
ENST00000409694.6:n.8897A>T
ENST00000423061.5:c.25169A>T	ENSP00000396024.1:p.Asn8390Ile
ENST00000460912.6:n.1927A>T
ENST00000478916.5:n.4335A>T
ENST00000536990.5:n.2150A>T
ENST00000539504.5:c.1778A>T	ENSP00000441052.1:p.Asn593Ile
NM_033071.3:c.25169A>T	NP_149062.1:p.Asn8390Ile
NM_182961.3:c.25313A>T	NP_892006.3:p.Asn8438Ile
XM_006715407.1:c.25418A>T	XP_006715470.1:p.Asn8473Ile
XM_006715408.1:c.25406A>T	XP_006715471.1:p.Asn8469Ile
XM_006715409.1:c.25397A>T	XP_006715472.1:p.Asn8466Ile
XM_006715410.1:c.25418A>T	XP_006715473.1:p.Asn8473Ile
XM_006715411.1:c.25367A>T	XP_006715474.1:p.Asn8456Ile
XM_006715412.1:c.25403A>T	XP_006715475.1:p.Asn8468Ile
XM_006715413.1:c.25349A>T	XP_006715476.1:p.Asn8450Ile
XM_006715414.1:c.25346A>T	XP_006715477.1:p.Asn8449Ile
XM_006715415.1:c.25349A>T	XP_006715478.1:p.Asn8450Ile
XM_006715416.1:c.25334A>T	XP_006715479.1:p.Asn8445Ile
XM_006715417.1:c.25277A>T	XP_006715480.1:p.Asn8426Ile
XM_006715420.1:c.25265A>T	XP_006715483.1:p.Asn8422Ile
XM_006715421.1:c.25262A>T	XP_006715484.1:p.Asn8421Ile
XM_006715422.1:c.25259A>T	XP_006715485.1:p.Asn8420Ile
XM_006715423.1:c.25418A>T	XP_006715486.1:p.Asn8473Ile
XM_006715424.1:c.25418A>T	XP_006715487.1:p.Asn8473Ile
XM_006715425.1:c.25349A>T	XP_006715488.1:p.Asn8450Ile
XM_011535641.1:c.25415A>T	XP_011533943.1:p.Asn8472Ile
XM_011535642.1:c.25403A>T	XP_011533944.1:p.Asn8468Ile
XM_011535643.1:c.25253A>T	XP_011533945.1:p.Asn8418Ile
XM_011535644.1:c.23693A>T	XP_011533946.1:p.Asn7898Ile
XM_011535645.1:c.23186A>T	XP_011533947.1:p.Asn7729Ile
XM_011535647.1:c.18653A>T	XP_011533949.1:p.Asn6218Ile
NM_001347701.1:c.1919A>T	NP_001334630.1:p.Asn640Ile
NM_001347702.1:c.1847A>T	NP_001334631.1:p.Asn616Ile
XM_006715408.2:c.25406A>T	XP_006715471.1:p.Asn8469Ile
XM_006715410.2:c.25418A>T	XP_006715473.1:p.Asn8473Ile
XM_006715412.2:c.25403A>T	XP_006715475.1:p.Asn8468Ile
XM_006715413.2:c.25349A>T	XP_006715476.1:p.Asn8450Ile
XM_006715415.2:c.25349A>T	XP_006715478.1:p.Asn8450Ile
XM_006715416.2:c.25334A>T	XP_006715479.1:p.Asn8445Ile
XM_006715417.2:c.25277A>T	XP_006715480.1:p.Asn8426Ile
XM_006715420.2:c.25265A>T	XP_006715483.1:p.Asn8422Ile
XM_006715421.2:c.25262A>T	XP_006715484.1:p.Asn8421Ile
XM_006715423.2:c.25418A>T	XP_006715486.1:p.Asn8473Ile
XM_006715424.2:c.25418A>T	XP_006715487.1:p.Asn8473Ile
XM_006715425.2:c.25349A>T	XP_006715488.1:p.Asn8450Ile
XM_011535641.2:c.25415A>T	XP_011533943.1:p.Asn8472Ile
XM_011535642.2:c.25403A>T	XP_011533944.1:p.Asn8468Ile
XM_011535645.2:c.23186A>T	XP_011533947.1:p.Asn7729Ile
XM_017010608.1:c.25418A>T	XP_016866097.1:p.Asn8473Ile
XM_017010609.1:c.25418A>T	XP_016866098.1:p.Asn8473Ile
XM_017010610.1:c.25397A>T	XP_016866099.1:p.Asn8466Ile
XM_017010611.2:c.25391A>T	XP_016866100.1:p.Asn8464Ile
XM_017010612.1:c.25340A>T	XP_016866101.1:p.Asn8447Ile
XM_017010613.1:c.25346A>T	XP_016866102.1:p.Asn8449Ile
XM_017010614.1:c.25262A>T	XP_016866103.1:p.Asn8421Ile
XM_017010615.1:c.25193A>T	XP_016866104.1:p.Asn8398Ile
XM_017010616.1:c.25349A>T	XP_016866105.1:p.Asn8450Ile
XM_017010617.1:c.25346A>T	XP_016866106.1:p.Asn8449Ile
XM_017010618.1:c.25334A>T	XP_016866107.1:p.Asn8445Ile
XM_017010619.1:c.23693A>T	XP_016866108.1:p.Asn7898Ile
NM_182961.4:c.25313A>T MANE Select	NP_892006.3:p.Asn8438Ile
NM_001347701.2:c.1919A>T	NP_001334630.1:p.Asn640Ile
NM_001347702.2:c.1847A>T MANE Plus Clinical	NP_001334631.1:p.Asn616Ile
NM_033071.5:c.25169A>T	NP_149062.2:p.Asn8390Ile