Canonical Allele Identifier: CA354874

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 222826
• ClinVar RCV Id: RCV000208308
• dbSNP Id: rs869025528
• MyVariant Identifiers: chr6:g.152631627C>A (hg19) ; chr6:g.152310492C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152310492C>A , CM000668.2:g.152310492C>A	GRCh38
NC_000006.11:g.152631627C>A , CM000668.1:g.152631627C>A	GRCh37
NC_000006.10:g.152673320C>A	NCBI36
NG_012855.1:g.331908G>T
NG_012855.2:g.331908G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682252.1:n.994G>T
ENST00000684208.1:n.994G>T
ENST00000684643.1:n.1083G>T
ENST00000367255.10:c.16923G>T MANE Select	ENSP00000356224.5:p.Leu5641Phe
ENST00000423061.6:c.16710G>T	ENSP00000396024.1:p.Leu5570Phe
ENST00000341594.9:c.15708G>T	ENSP00000341887.6:p.Leu5236Phe
ENST00000367255.9:c.16923G>T	ENSP00000356224.5:p.Leu5641Phe
ENST00000367256.9:n.615G>T
ENST00000409694.6:n.507G>T
ENST00000423061.5:c.16710G>T	ENSP00000396024.1:p.Leu5570Phe
NM_033071.3:c.16710G>T	NP_149062.1:p.Leu5570Phe
NM_182961.3:c.16923G>T	NP_892006.3:p.Leu5641Phe
XM_006715407.1:c.16944G>T	XP_006715470.1:p.Leu5648Phe
XM_006715408.1:c.16944G>T	XP_006715471.1:p.Leu5648Phe
XM_006715409.1:c.16923G>T	XP_006715472.1:p.Leu5641Phe
XM_006715410.1:c.16944G>T	XP_006715473.1:p.Leu5648Phe
XM_006715411.1:c.16893G>T	XP_006715474.1:p.Leu5631Phe
XM_006715412.1:c.16944G>T	XP_006715475.1:p.Leu5648Phe
XM_006715413.1:c.16944G>T	XP_006715476.1:p.Leu5648Phe
XM_006715414.1:c.16872G>T	XP_006715477.1:p.Leu5624Phe
XM_006715415.1:c.16944G>T	XP_006715478.1:p.Leu5648Phe
XM_006715416.1:c.16944G>T	XP_006715479.1:p.Leu5648Phe
XM_006715417.1:c.16944G>T	XP_006715480.1:p.Leu5648Phe
XM_006715420.1:c.16944G>T	XP_006715483.1:p.Leu5648Phe
XM_006715421.1:c.16788G>T	XP_006715484.1:p.Leu5596Phe
XM_006715422.1:c.16785G>T	XP_006715485.1:p.Leu5595Phe
XM_006715423.1:c.16944G>T	XP_006715486.1:p.Leu5648Phe
XM_006715424.1:c.16944G>T	XP_006715487.1:p.Leu5648Phe
XM_006715425.1:c.16944G>T	XP_006715488.1:p.Leu5648Phe
XM_011535641.1:c.16944G>T	XP_011533943.1:p.Leu5648Phe
XM_011535642.1:c.16944G>T	XP_011533944.1:p.Leu5648Phe
XM_011535643.1:c.16779G>T	XP_011533945.1:p.Leu5593Phe
XM_011535644.1:c.15219G>T	XP_011533946.1:p.Leu5073Phe
XM_011535645.1:c.14712G>T	XP_011533947.1:p.Leu4904Phe
XM_011535646.1:c.16944G>T	XP_011533948.1:p.Leu5648Phe
XM_011535647.1:c.10179G>T	XP_011533949.1:p.Leu3393Phe
XM_006715408.2:c.16944G>T	XP_006715471.1:p.Leu5648Phe
XM_006715410.2:c.16944G>T	XP_006715473.1:p.Leu5648Phe
XM_006715412.2:c.16944G>T	XP_006715475.1:p.Leu5648Phe
XM_006715413.2:c.16944G>T	XP_006715476.1:p.Leu5648Phe
XM_006715415.2:c.16944G>T	XP_006715478.1:p.Leu5648Phe
XM_006715416.2:c.16944G>T	XP_006715479.1:p.Leu5648Phe
XM_006715417.2:c.16944G>T	XP_006715480.1:p.Leu5648Phe
XM_006715420.2:c.16944G>T	XP_006715483.1:p.Leu5648Phe
XM_006715421.2:c.16788G>T	XP_006715484.1:p.Leu5596Phe
XM_006715423.2:c.16944G>T	XP_006715486.1:p.Leu5648Phe
XM_006715424.2:c.16944G>T	XP_006715487.1:p.Leu5648Phe
XM_006715425.2:c.16944G>T	XP_006715488.1:p.Leu5648Phe
XM_011535641.2:c.16944G>T	XP_011533943.1:p.Leu5648Phe
XM_011535642.2:c.16944G>T	XP_011533944.1:p.Leu5648Phe
XM_011535645.2:c.14712G>T	XP_011533947.1:p.Leu4904Phe
XM_017010608.1:c.16944G>T	XP_016866097.1:p.Leu5648Phe
XM_017010609.1:c.16944G>T	XP_016866098.1:p.Leu5648Phe
XM_017010610.1:c.16923G>T	XP_016866099.1:p.Leu5641Phe
XM_017010611.2:c.16917G>T	XP_016866100.1:p.Leu5639Phe
XM_017010612.1:c.16866G>T	XP_016866101.1:p.Leu5622Phe
XM_017010613.1:c.16944G>T	XP_016866102.1:p.Leu5648Phe
XM_017010614.1:c.16944G>T	XP_016866103.1:p.Leu5648Phe
XM_017010615.1:c.16944G>T	XP_016866104.1:p.Leu5648Phe
XM_017010616.1:c.16944G>T	XP_016866105.1:p.Leu5648Phe
XM_017010617.1:c.16944G>T	XP_016866106.1:p.Leu5648Phe
XM_017010618.1:c.16944G>T	XP_016866107.1:p.Leu5648Phe
XM_017010619.1:c.15219G>T	XP_016866108.1:p.Leu5073Phe
XR_001743287.1:n.17427G>T
NM_182961.4:c.16923G>T MANE Select	NP_892006.3:p.Leu5641Phe
NM_033071.5:c.16710G>T	NP_149062.2:p.Leu5570Phe