Canonical Allele Identifier: CA366099472

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152213724-A-G
• MyVariant Identifiers: chr6:g.152534859A>G (hg19) ; chr6:g.152213724A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213724A>G , CM000668.2:g.152213724A>G	GRCh38
NC_000006.11:g.152534859A>G , CM000668.1:g.152534859A>G	GRCh37
NC_000006.10:g.152576552A>G	NCBI36
NG_012855.1:g.428676T>C
NG_012855.2:g.428676T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22382T>C MANE Select	ENSP00000356224.5:p.Phe7461Ser
ENST00000423061.6:c.22169T>C	ENSP00000396024.1:p.Phe7390Ser
ENST00000341594.9:c.21167T>C	ENSP00000341887.6:p.Phe7056Ser
ENST00000367251.7:c.1148T>C	ENSP00000356220.3:p.Phe383Ser
ENST00000367255.9:c.22382T>C	ENSP00000356224.5:p.Phe7461Ser
ENST00000367256.9:n.6074T>C
ENST00000367257.8:c.320T>C	ENSP00000356226.4:p.Phe107Ser
ENST00000409694.6:n.5966T>C
ENST00000423061.5:c.22169T>C	ENSP00000396024.1:p.Phe7390Ser
NM_033071.3:c.22169T>C	NP_149062.1:p.Phe7390Ser
NM_182961.3:c.22382T>C	NP_892006.3:p.Phe7461Ser
XM_006715407.1:c.22418T>C	XP_006715470.1:p.Phe7473Ser
XM_006715408.1:c.22406T>C	XP_006715471.1:p.Phe7469Ser
XM_006715409.1:c.22397T>C	XP_006715472.1:p.Phe7466Ser
XM_006715410.1:c.22418T>C	XP_006715473.1:p.Phe7473Ser
XM_006715411.1:c.22367T>C	XP_006715474.1:p.Phe7456Ser
XM_006715412.1:c.22403T>C	XP_006715475.1:p.Phe7468Ser
XM_006715413.1:c.22418T>C	XP_006715476.1:p.Phe7473Ser
XM_006715414.1:c.22346T>C	XP_006715477.1:p.Phe7449Ser
XM_006715415.1:c.22418T>C	XP_006715478.1:p.Phe7473Ser
XM_006715416.1:c.22403T>C	XP_006715479.1:p.Phe7468Ser
XM_006715417.1:c.22277T>C	XP_006715480.1:p.Phe7426Ser
XM_006715420.1:c.22265T>C	XP_006715483.1:p.Phe7422Ser
XM_006715421.1:c.22262T>C	XP_006715484.1:p.Phe7421Ser
XM_006715422.1:c.22259T>C	XP_006715485.1:p.Phe7420Ser
XM_006715423.1:c.22418T>C	XP_006715486.1:p.Phe7473Ser
XM_006715424.1:c.22418T>C	XP_006715487.1:p.Phe7473Ser
XM_006715425.1:c.22418T>C	XP_006715488.1:p.Phe7473Ser
XM_011535641.1:c.22415T>C	XP_011533943.1:p.Phe7472Ser
XM_011535642.1:c.22403T>C	XP_011533944.1:p.Phe7468Ser
XM_011535643.1:c.22253T>C	XP_011533945.1:p.Phe7418Ser
XM_011535644.1:c.20693T>C	XP_011533946.1:p.Phe6898Ser
XM_011535645.1:c.20186T>C	XP_011533947.1:p.Phe6729Ser
XM_011535647.1:c.15653T>C	XP_011533949.1:p.Phe5218Ser
XM_006715408.2:c.22406T>C	XP_006715471.1:p.Phe7469Ser
XM_006715410.2:c.22418T>C	XP_006715473.1:p.Phe7473Ser
XM_006715412.2:c.22403T>C	XP_006715475.1:p.Phe7468Ser
XM_006715413.2:c.22418T>C	XP_006715476.1:p.Phe7473Ser
XM_006715415.2:c.22418T>C	XP_006715478.1:p.Phe7473Ser
XM_006715416.2:c.22403T>C	XP_006715479.1:p.Phe7468Ser
XM_006715417.2:c.22277T>C	XP_006715480.1:p.Phe7426Ser
XM_006715420.2:c.22265T>C	XP_006715483.1:p.Phe7422Ser
XM_006715421.2:c.22262T>C	XP_006715484.1:p.Phe7421Ser
XM_006715423.2:c.22418T>C	XP_006715486.1:p.Phe7473Ser
XM_006715424.2:c.22418T>C	XP_006715487.1:p.Phe7473Ser
XM_006715425.2:c.22418T>C	XP_006715488.1:p.Phe7473Ser
XM_011535641.2:c.22415T>C	XP_011533943.1:p.Phe7472Ser
XM_011535642.2:c.22403T>C	XP_011533944.1:p.Phe7468Ser
XM_011535645.2:c.20186T>C	XP_011533947.1:p.Phe6729Ser
XM_017010608.1:c.22418T>C	XP_016866097.1:p.Phe7473Ser
XM_017010609.1:c.22418T>C	XP_016866098.1:p.Phe7473Ser
XM_017010610.1:c.22397T>C	XP_016866099.1:p.Phe7466Ser
XM_017010611.2:c.22391T>C	XP_016866100.1:p.Phe7464Ser
XM_017010612.1:c.22340T>C	XP_016866101.1:p.Phe7447Ser
XM_017010613.1:c.22415T>C	XP_016866102.1:p.Phe7472Ser
XM_017010614.1:c.22262T>C	XP_016866103.1:p.Phe7421Ser
XM_017010615.1:c.22262T>C	XP_016866104.1:p.Phe7421Ser
XM_017010616.1:c.22418T>C	XP_016866105.1:p.Phe7473Ser
XM_017010617.1:c.22415T>C	XP_016866106.1:p.Phe7472Ser
XM_017010618.1:c.22403T>C	XP_016866107.1:p.Phe7468Ser
XM_017010619.1:c.20693T>C	XP_016866108.1:p.Phe6898Ser
NM_182961.4:c.22382T>C MANE Select	NP_892006.3:p.Phe7461Ser
NM_033071.5:c.22169T>C	NP_149062.2:p.Phe7390Ser