Canonical Allele Identifier: CA366099210

Gene: SYNE1

Linked Data

• dbSNP Id: rs2077986462
• gnomAD v4: 6-152213668-C-T
• MyVariant Identifiers: chr6:g.152534803C>T (hg19) ; chr6:g.152213668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213668C>T , CM000668.2:g.152213668C>T	GRCh38
NC_000006.11:g.152534803C>T , CM000668.1:g.152534803C>T	GRCh37
NC_000006.10:g.152576496C>T	NCBI36
NG_012855.1:g.428732G>A
NG_012855.2:g.428732G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22438G>A MANE Select	ENSP00000356224.5:p.Ala7480Thr
ENST00000423061.6:c.22225G>A	ENSP00000396024.1:p.Ala7409Thr
ENST00000341594.9:c.21223G>A	ENSP00000341887.6:p.Ala7075Thr
ENST00000367251.7:c.1204G>A	ENSP00000356220.3:p.Ala402Thr
ENST00000367255.9:c.22438G>A	ENSP00000356224.5:p.Ala7480Thr
ENST00000367256.9:n.6130G>A
ENST00000367257.8:c.376G>A	ENSP00000356226.4:p.Ala126Thr
ENST00000409694.6:n.6022G>A
ENST00000423061.5:c.22225G>A	ENSP00000396024.1:p.Ala7409Thr
NM_033071.3:c.22225G>A	NP_149062.1:p.Ala7409Thr
NM_182961.3:c.22438G>A	NP_892006.3:p.Ala7480Thr
XM_006715407.1:c.22474G>A	XP_006715470.1:p.Ala7492Thr
XM_006715408.1:c.22462G>A	XP_006715471.1:p.Ala7488Thr
XM_006715409.1:c.22453G>A	XP_006715472.1:p.Ala7485Thr
XM_006715410.1:c.22474G>A	XP_006715473.1:p.Ala7492Thr
XM_006715411.1:c.22423G>A	XP_006715474.1:p.Ala7475Thr
XM_006715412.1:c.22459G>A	XP_006715475.1:p.Ala7487Thr
XM_006715413.1:c.22474G>A	XP_006715476.1:p.Ala7492Thr
XM_006715414.1:c.22402G>A	XP_006715477.1:p.Ala7468Thr
XM_006715415.1:c.22474G>A	XP_006715478.1:p.Ala7492Thr
XM_006715416.1:c.22459G>A	XP_006715479.1:p.Ala7487Thr
XM_006715417.1:c.22333G>A	XP_006715480.1:p.Ala7445Thr
XM_006715420.1:c.22321G>A	XP_006715483.1:p.Ala7441Thr
XM_006715421.1:c.22318G>A	XP_006715484.1:p.Ala7440Thr
XM_006715422.1:c.22315G>A	XP_006715485.1:p.Ala7439Thr
XM_006715423.1:c.22474G>A	XP_006715486.1:p.Ala7492Thr
XM_006715424.1:c.22474G>A	XP_006715487.1:p.Ala7492Thr
XM_006715425.1:c.22474G>A	XP_006715488.1:p.Ala7492Thr
XM_011535641.1:c.22471G>A	XP_011533943.1:p.Ala7491Thr
XM_011535642.1:c.22459G>A	XP_011533944.1:p.Ala7487Thr
XM_011535643.1:c.22309G>A	XP_011533945.1:p.Ala7437Thr
XM_011535644.1:c.20749G>A	XP_011533946.1:p.Ala6917Thr
XM_011535645.1:c.20242G>A	XP_011533947.1:p.Ala6748Thr
XM_011535647.1:c.15709G>A	XP_011533949.1:p.Ala5237Thr
XM_006715408.2:c.22462G>A	XP_006715471.1:p.Ala7488Thr
XM_006715410.2:c.22474G>A	XP_006715473.1:p.Ala7492Thr
XM_006715412.2:c.22459G>A	XP_006715475.1:p.Ala7487Thr
XM_006715413.2:c.22474G>A	XP_006715476.1:p.Ala7492Thr
XM_006715415.2:c.22474G>A	XP_006715478.1:p.Ala7492Thr
XM_006715416.2:c.22459G>A	XP_006715479.1:p.Ala7487Thr
XM_006715417.2:c.22333G>A	XP_006715480.1:p.Ala7445Thr
XM_006715420.2:c.22321G>A	XP_006715483.1:p.Ala7441Thr
XM_006715421.2:c.22318G>A	XP_006715484.1:p.Ala7440Thr
XM_006715423.2:c.22474G>A	XP_006715486.1:p.Ala7492Thr
XM_006715424.2:c.22474G>A	XP_006715487.1:p.Ala7492Thr
XM_006715425.2:c.22474G>A	XP_006715488.1:p.Ala7492Thr
XM_011535641.2:c.22471G>A	XP_011533943.1:p.Ala7491Thr
XM_011535642.2:c.22459G>A	XP_011533944.1:p.Ala7487Thr
XM_011535645.2:c.20242G>A	XP_011533947.1:p.Ala6748Thr
XM_017010608.1:c.22474G>A	XP_016866097.1:p.Ala7492Thr
XM_017010609.1:c.22474G>A	XP_016866098.1:p.Ala7492Thr
XM_017010610.1:c.22453G>A	XP_016866099.1:p.Ala7485Thr
XM_017010611.2:c.22447G>A	XP_016866100.1:p.Ala7483Thr
XM_017010612.1:c.22396G>A	XP_016866101.1:p.Ala7466Thr
XM_017010613.1:c.22471G>A	XP_016866102.1:p.Ala7491Thr
XM_017010614.1:c.22318G>A	XP_016866103.1:p.Ala7440Thr
XM_017010615.1:c.22318G>A	XP_016866104.1:p.Ala7440Thr
XM_017010616.1:c.22474G>A	XP_016866105.1:p.Ala7492Thr
XM_017010617.1:c.22471G>A	XP_016866106.1:p.Ala7491Thr
XM_017010618.1:c.22459G>A	XP_016866107.1:p.Ala7487Thr
XM_017010619.1:c.20749G>A	XP_016866108.1:p.Ala6917Thr
NM_182961.4:c.22438G>A MANE Select	NP_892006.3:p.Ala7480Thr
NM_033071.5:c.22225G>A	NP_149062.2:p.Ala7409Thr