Canonical Allele Identifier: CA366099426

Gene: SYNE1

Linked Data

• dbSNP Id: rs1488647721
• gnomAD v3: 6-152213715-T-C
• gnomAD v4: 6-152213715-T-C
• MyVariant Identifiers: chr6:g.152534850T>C (hg19) ; chr6:g.152213715T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213715T>C , CM000668.2:g.152213715T>C	GRCh38
NC_000006.11:g.152534850T>C , CM000668.1:g.152534850T>C	GRCh37
NC_000006.10:g.152576543T>C	NCBI36
NG_012855.1:g.428685A>G
NG_012855.2:g.428685A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22391A>G MANE Select	ENSP00000356224.5:p.Lys7464Arg
ENST00000423061.6:c.22178A>G	ENSP00000396024.1:p.Lys7393Arg
ENST00000341594.9:c.21176A>G	ENSP00000341887.6:p.Lys7059Arg
ENST00000367251.7:c.1157A>G	ENSP00000356220.3:p.Lys386Arg
ENST00000367255.9:c.22391A>G	ENSP00000356224.5:p.Lys7464Arg
ENST00000367256.9:n.6083A>G
ENST00000367257.8:c.329A>G	ENSP00000356226.4:p.Lys110Arg
ENST00000409694.6:n.5975A>G
ENST00000423061.5:c.22178A>G	ENSP00000396024.1:p.Lys7393Arg
NM_033071.3:c.22178A>G	NP_149062.1:p.Lys7393Arg
NM_182961.3:c.22391A>G	NP_892006.3:p.Lys7464Arg
XM_006715407.1:c.22427A>G	XP_006715470.1:p.Lys7476Arg
XM_006715408.1:c.22415A>G	XP_006715471.1:p.Lys7472Arg
XM_006715409.1:c.22406A>G	XP_006715472.1:p.Lys7469Arg
XM_006715410.1:c.22427A>G	XP_006715473.1:p.Lys7476Arg
XM_006715411.1:c.22376A>G	XP_006715474.1:p.Lys7459Arg
XM_006715412.1:c.22412A>G	XP_006715475.1:p.Lys7471Arg
XM_006715413.1:c.22427A>G	XP_006715476.1:p.Lys7476Arg
XM_006715414.1:c.22355A>G	XP_006715477.1:p.Lys7452Arg
XM_006715415.1:c.22427A>G	XP_006715478.1:p.Lys7476Arg
XM_006715416.1:c.22412A>G	XP_006715479.1:p.Lys7471Arg
XM_006715417.1:c.22286A>G	XP_006715480.1:p.Lys7429Arg
XM_006715420.1:c.22274A>G	XP_006715483.1:p.Lys7425Arg
XM_006715421.1:c.22271A>G	XP_006715484.1:p.Lys7424Arg
XM_006715422.1:c.22268A>G	XP_006715485.1:p.Lys7423Arg
XM_006715423.1:c.22427A>G	XP_006715486.1:p.Lys7476Arg
XM_006715424.1:c.22427A>G	XP_006715487.1:p.Lys7476Arg
XM_006715425.1:c.22427A>G	XP_006715488.1:p.Lys7476Arg
XM_011535641.1:c.22424A>G	XP_011533943.1:p.Lys7475Arg
XM_011535642.1:c.22412A>G	XP_011533944.1:p.Lys7471Arg
XM_011535643.1:c.22262A>G	XP_011533945.1:p.Lys7421Arg
XM_011535644.1:c.20702A>G	XP_011533946.1:p.Lys6901Arg
XM_011535645.1:c.20195A>G	XP_011533947.1:p.Lys6732Arg
XM_011535647.1:c.15662A>G	XP_011533949.1:p.Lys5221Arg
XM_006715408.2:c.22415A>G	XP_006715471.1:p.Lys7472Arg
XM_006715410.2:c.22427A>G	XP_006715473.1:p.Lys7476Arg
XM_006715412.2:c.22412A>G	XP_006715475.1:p.Lys7471Arg
XM_006715413.2:c.22427A>G	XP_006715476.1:p.Lys7476Arg
XM_006715415.2:c.22427A>G	XP_006715478.1:p.Lys7476Arg
XM_006715416.2:c.22412A>G	XP_006715479.1:p.Lys7471Arg
XM_006715417.2:c.22286A>G	XP_006715480.1:p.Lys7429Arg
XM_006715420.2:c.22274A>G	XP_006715483.1:p.Lys7425Arg
XM_006715421.2:c.22271A>G	XP_006715484.1:p.Lys7424Arg
XM_006715423.2:c.22427A>G	XP_006715486.1:p.Lys7476Arg
XM_006715424.2:c.22427A>G	XP_006715487.1:p.Lys7476Arg
XM_006715425.2:c.22427A>G	XP_006715488.1:p.Lys7476Arg
XM_011535641.2:c.22424A>G	XP_011533943.1:p.Lys7475Arg
XM_011535642.2:c.22412A>G	XP_011533944.1:p.Lys7471Arg
XM_011535645.2:c.20195A>G	XP_011533947.1:p.Lys6732Arg
XM_017010608.1:c.22427A>G	XP_016866097.1:p.Lys7476Arg
XM_017010609.1:c.22427A>G	XP_016866098.1:p.Lys7476Arg
XM_017010610.1:c.22406A>G	XP_016866099.1:p.Lys7469Arg
XM_017010611.2:c.22400A>G	XP_016866100.1:p.Lys7467Arg
XM_017010612.1:c.22349A>G	XP_016866101.1:p.Lys7450Arg
XM_017010613.1:c.22424A>G	XP_016866102.1:p.Lys7475Arg
XM_017010614.1:c.22271A>G	XP_016866103.1:p.Lys7424Arg
XM_017010615.1:c.22271A>G	XP_016866104.1:p.Lys7424Arg
XM_017010616.1:c.22427A>G	XP_016866105.1:p.Lys7476Arg
XM_017010617.1:c.22424A>G	XP_016866106.1:p.Lys7475Arg
XM_017010618.1:c.22412A>G	XP_016866107.1:p.Lys7471Arg
XM_017010619.1:c.20702A>G	XP_016866108.1:p.Lys6901Arg
NM_182961.4:c.22391A>G MANE Select	NP_892006.3:p.Lys7464Arg
NM_033071.5:c.22178A>G	NP_149062.2:p.Lys7393Arg