Canonical Allele Identifier: CA366122304

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152236218-C-T
• MyVariant Identifiers: chr6:g.152557353C>T (hg19) ; chr6:g.152236218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152236218C>T , CM000668.2:g.152236218C>T	GRCh38
NC_000006.11:g.152557353C>T , CM000668.1:g.152557353C>T	GRCh37
NC_000006.10:g.152599046C>T	NCBI36
NG_012855.1:g.406182G>A
NG_012855.2:g.406182G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367255.10:c.20285G>A MANE Select	ENSP00000356224.5:p.Cys6762Tyr
ENST00000423061.6:c.20072G>A	ENSP00000396024.1:p.Cys6691Tyr
ENST00000341594.9:c.19070G>A	ENSP00000341887.6:p.Cys6357Tyr
ENST00000367255.9:c.20285G>A	ENSP00000356224.5:p.Cys6762Tyr
ENST00000367256.9:n.3977G>A
ENST00000409694.6:n.3869G>A
ENST00000423061.5:c.20072G>A	ENSP00000396024.1:p.Cys6691Tyr
NM_033071.3:c.20072G>A	NP_149062.1:p.Cys6691Tyr
NM_182961.3:c.20285G>A	NP_892006.3:p.Cys6762Tyr
XM_006715407.1:c.20321G>A	XP_006715470.1:p.Cys6774Tyr
XM_006715408.1:c.20309G>A	XP_006715471.1:p.Cys6770Tyr
XM_006715409.1:c.20300G>A	XP_006715472.1:p.Cys6767Tyr
XM_006715410.1:c.20321G>A	XP_006715473.1:p.Cys6774Tyr
XM_006715411.1:c.20270G>A	XP_006715474.1:p.Cys6757Tyr
XM_006715412.1:c.20306G>A	XP_006715475.1:p.Cys6769Tyr
XM_006715413.1:c.20321G>A	XP_006715476.1:p.Cys6774Tyr
XM_006715414.1:c.20249G>A	XP_006715477.1:p.Cys6750Tyr
XM_006715415.1:c.20321G>A	XP_006715478.1:p.Cys6774Tyr
XM_006715416.1:c.20306G>A	XP_006715479.1:p.Cys6769Tyr
XM_006715417.1:c.20180G>A	XP_006715480.1:p.Cys6727Tyr
XM_006715420.1:c.20168G>A	XP_006715483.1:p.Cys6723Tyr
XM_006715421.1:c.20165G>A	XP_006715484.1:p.Cys6722Tyr
XM_006715422.1:c.20162G>A	XP_006715485.1:p.Cys6721Tyr
XM_006715423.1:c.20321G>A	XP_006715486.1:p.Cys6774Tyr
XM_006715424.1:c.20321G>A	XP_006715487.1:p.Cys6774Tyr
XM_006715425.1:c.20321G>A	XP_006715488.1:p.Cys6774Tyr
XM_011535641.1:c.20318G>A	XP_011533943.1:p.Cys6773Tyr
XM_011535642.1:c.20306G>A	XP_011533944.1:p.Cys6769Tyr
XM_011535643.1:c.20156G>A	XP_011533945.1:p.Cys6719Tyr
XM_011535644.1:c.18596G>A	XP_011533946.1:p.Cys6199Tyr
XM_011535645.1:c.18089G>A	XP_011533947.1:p.Cys6030Tyr
XM_011535647.1:c.13556G>A	XP_011533949.1:p.Cys4519Tyr
XM_006715408.2:c.20309G>A	XP_006715471.1:p.Cys6770Tyr
XM_006715410.2:c.20321G>A	XP_006715473.1:p.Cys6774Tyr
XM_006715412.2:c.20306G>A	XP_006715475.1:p.Cys6769Tyr
XM_006715413.2:c.20321G>A	XP_006715476.1:p.Cys6774Tyr
XM_006715415.2:c.20321G>A	XP_006715478.1:p.Cys6774Tyr
XM_006715416.2:c.20306G>A	XP_006715479.1:p.Cys6769Tyr
XM_006715417.2:c.20180G>A	XP_006715480.1:p.Cys6727Tyr
XM_006715420.2:c.20168G>A	XP_006715483.1:p.Cys6723Tyr
XM_006715421.2:c.20165G>A	XP_006715484.1:p.Cys6722Tyr
XM_006715423.2:c.20321G>A	XP_006715486.1:p.Cys6774Tyr
XM_006715424.2:c.20321G>A	XP_006715487.1:p.Cys6774Tyr
XM_006715425.2:c.20321G>A	XP_006715488.1:p.Cys6774Tyr
XM_011535641.2:c.20318G>A	XP_011533943.1:p.Cys6773Tyr
XM_011535642.2:c.20306G>A	XP_011533944.1:p.Cys6769Tyr
XM_011535645.2:c.18089G>A	XP_011533947.1:p.Cys6030Tyr
XM_017010608.1:c.20321G>A	XP_016866097.1:p.Cys6774Tyr
XM_017010609.1:c.20321G>A	XP_016866098.1:p.Cys6774Tyr
XM_017010610.1:c.20300G>A	XP_016866099.1:p.Cys6767Tyr
XM_017010611.2:c.20294G>A	XP_016866100.1:p.Cys6765Tyr
XM_017010612.1:c.20243G>A	XP_016866101.1:p.Cys6748Tyr
XM_017010613.1:c.20318G>A	XP_016866102.1:p.Cys6773Tyr
XM_017010614.1:c.20165G>A	XP_016866103.1:p.Cys6722Tyr
XM_017010615.1:c.20165G>A	XP_016866104.1:p.Cys6722Tyr
XM_017010616.1:c.20321G>A	XP_016866105.1:p.Cys6774Tyr
XM_017010617.1:c.20318G>A	XP_016866106.1:p.Cys6773Tyr
XM_017010618.1:c.20306G>A	XP_016866107.1:p.Cys6769Tyr
XM_017010619.1:c.18596G>A	XP_016866108.1:p.Cys6199Tyr
NM_182961.4:c.20285G>A MANE Select	NP_892006.3:p.Cys6762Tyr
NM_033071.5:c.20072G>A	NP_149062.2:p.Cys6691Tyr