Canonical Allele Identifier: CA366099348

Gene: SYNE1

Linked Data

• dbSNP Id: rs1345435985
• gnomAD v2: 6-152534834-C-T
• MyVariant Identifiers: chr6:g.152534834C>T (hg19) ; chr6:g.152213699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213699C>T , CM000668.2:g.152213699C>T	GRCh38
NC_000006.11:g.152534834C>T , CM000668.1:g.152534834C>T	GRCh37
NC_000006.10:g.152576527C>T	NCBI36
NG_012855.1:g.428701G>A
NG_012855.2:g.428701G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22407G>A MANE Select	ENSP00000356224.5:p.Met7469Ile
ENST00000423061.6:c.22194G>A	ENSP00000396024.1:p.Met7398Ile
ENST00000341594.9:c.21192G>A	ENSP00000341887.6:p.Met7064Ile
ENST00000367251.7:c.1173G>A	ENSP00000356220.3:p.Met391Ile
ENST00000367255.9:c.22407G>A	ENSP00000356224.5:p.Met7469Ile
ENST00000367256.9:n.6099G>A
ENST00000367257.8:c.345G>A	ENSP00000356226.4:p.Met115Ile
ENST00000409694.6:n.5991G>A
ENST00000423061.5:c.22194G>A	ENSP00000396024.1:p.Met7398Ile
NM_033071.3:c.22194G>A	NP_149062.1:p.Met7398Ile
NM_182961.3:c.22407G>A	NP_892006.3:p.Met7469Ile
XM_006715407.1:c.22443G>A	XP_006715470.1:p.Met7481Ile
XM_006715408.1:c.22431G>A	XP_006715471.1:p.Met7477Ile
XM_006715409.1:c.22422G>A	XP_006715472.1:p.Met7474Ile
XM_006715410.1:c.22443G>A	XP_006715473.1:p.Met7481Ile
XM_006715411.1:c.22392G>A	XP_006715474.1:p.Met7464Ile
XM_006715412.1:c.22428G>A	XP_006715475.1:p.Met7476Ile
XM_006715413.1:c.22443G>A	XP_006715476.1:p.Met7481Ile
XM_006715414.1:c.22371G>A	XP_006715477.1:p.Met7457Ile
XM_006715415.1:c.22443G>A	XP_006715478.1:p.Met7481Ile
XM_006715416.1:c.22428G>A	XP_006715479.1:p.Met7476Ile
XM_006715417.1:c.22302G>A	XP_006715480.1:p.Met7434Ile
XM_006715420.1:c.22290G>A	XP_006715483.1:p.Met7430Ile
XM_006715421.1:c.22287G>A	XP_006715484.1:p.Met7429Ile
XM_006715422.1:c.22284G>A	XP_006715485.1:p.Met7428Ile
XM_006715423.1:c.22443G>A	XP_006715486.1:p.Met7481Ile
XM_006715424.1:c.22443G>A	XP_006715487.1:p.Met7481Ile
XM_006715425.1:c.22443G>A	XP_006715488.1:p.Met7481Ile
XM_011535641.1:c.22440G>A	XP_011533943.1:p.Met7480Ile
XM_011535642.1:c.22428G>A	XP_011533944.1:p.Met7476Ile
XM_011535643.1:c.22278G>A	XP_011533945.1:p.Met7426Ile
XM_011535644.1:c.20718G>A	XP_011533946.1:p.Met6906Ile
XM_011535645.1:c.20211G>A	XP_011533947.1:p.Met6737Ile
XM_011535647.1:c.15678G>A	XP_011533949.1:p.Met5226Ile
XM_006715408.2:c.22431G>A	XP_006715471.1:p.Met7477Ile
XM_006715410.2:c.22443G>A	XP_006715473.1:p.Met7481Ile
XM_006715412.2:c.22428G>A	XP_006715475.1:p.Met7476Ile
XM_006715413.2:c.22443G>A	XP_006715476.1:p.Met7481Ile
XM_006715415.2:c.22443G>A	XP_006715478.1:p.Met7481Ile
XM_006715416.2:c.22428G>A	XP_006715479.1:p.Met7476Ile
XM_006715417.2:c.22302G>A	XP_006715480.1:p.Met7434Ile
XM_006715420.2:c.22290G>A	XP_006715483.1:p.Met7430Ile
XM_006715421.2:c.22287G>A	XP_006715484.1:p.Met7429Ile
XM_006715423.2:c.22443G>A	XP_006715486.1:p.Met7481Ile
XM_006715424.2:c.22443G>A	XP_006715487.1:p.Met7481Ile
XM_006715425.2:c.22443G>A	XP_006715488.1:p.Met7481Ile
XM_011535641.2:c.22440G>A	XP_011533943.1:p.Met7480Ile
XM_011535642.2:c.22428G>A	XP_011533944.1:p.Met7476Ile
XM_011535645.2:c.20211G>A	XP_011533947.1:p.Met6737Ile
XM_017010608.1:c.22443G>A	XP_016866097.1:p.Met7481Ile
XM_017010609.1:c.22443G>A	XP_016866098.1:p.Met7481Ile
XM_017010610.1:c.22422G>A	XP_016866099.1:p.Met7474Ile
XM_017010611.2:c.22416G>A	XP_016866100.1:p.Met7472Ile
XM_017010612.1:c.22365G>A	XP_016866101.1:p.Met7455Ile
XM_017010613.1:c.22440G>A	XP_016866102.1:p.Met7480Ile
XM_017010614.1:c.22287G>A	XP_016866103.1:p.Met7429Ile
XM_017010615.1:c.22287G>A	XP_016866104.1:p.Met7429Ile
XM_017010616.1:c.22443G>A	XP_016866105.1:p.Met7481Ile
XM_017010617.1:c.22440G>A	XP_016866106.1:p.Met7480Ile
XM_017010618.1:c.22428G>A	XP_016866107.1:p.Met7476Ile
XM_017010619.1:c.20718G>A	XP_016866108.1:p.Met6906Ile
NM_182961.4:c.22407G>A MANE Select	NP_892006.3:p.Met7469Ile
NM_033071.5:c.22194G>A	NP_149062.2:p.Met7398Ile