Canonical Allele Identifier: CA150216169

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 905301
• ClinVar RCV Id: RCV001153760 ; RCV001153761 ; RCV002558331 ; RCV003142082
• dbSNP Id: rs770022371
• gnomAD v2: 6-152644648-C-A
• gnomAD v3: 6-152323513-C-A
• gnomAD v4: 6-152323513-C-A
• MyVariant Identifiers: chr6:g.152644648C>A (hg19) ; chr6:g.152323513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152323513C>A , CM000668.2:g.152323513C>A	GRCh38
NC_000006.11:g.152644648C>A , CM000668.1:g.152644648C>A	GRCh37
NC_000006.10:g.152686341C>A	NCBI36
NG_012855.1:g.318887G>T
NG_012855.2:g.318887G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.15882G>T MANE Select	ENSP00000356224.5:p.Met5294Ile
ENST00000423061.6:c.15669G>T	ENSP00000396024.1:p.Met5223Ile
ENST00000341594.9:c.14910G>T	ENSP00000341887.6:p.Met4970Ile
ENST00000367255.9:c.15882G>T	ENSP00000356224.5:p.Met5294Ile
ENST00000423061.5:c.15669G>T	ENSP00000396024.1:p.Met5223Ile
ENST00000448038.2:c.-37G>T	ENSP00000390975.2:n.-37G>T
ENST00000490135.6:n.3228G>T
NM_033071.3:c.15669G>T	NP_149062.1:p.Met5223Ile
NM_182961.3:c.15882G>T	NP_892006.3:p.Met5294Ile
XM_006715407.1:c.15903G>T	XP_006715470.1:p.Met5301Ile
XM_006715408.1:c.15903G>T	XP_006715471.1:p.Met5301Ile
XM_006715409.1:c.15882G>T	XP_006715472.1:p.Met5294Ile
XM_006715410.1:c.15903G>T	XP_006715473.1:p.Met5301Ile
XM_006715411.1:c.15852G>T	XP_006715474.1:p.Met5284Ile
XM_006715412.1:c.15903G>T	XP_006715475.1:p.Met5301Ile
XM_006715413.1:c.15903G>T	XP_006715476.1:p.Met5301Ile
XM_006715414.1:c.15831G>T	XP_006715477.1:p.Met5277Ile
XM_006715415.1:c.15903G>T	XP_006715478.1:p.Met5301Ile
XM_006715416.1:c.15903G>T	XP_006715479.1:p.Met5301Ile
XM_006715417.1:c.15903G>T	XP_006715480.1:p.Met5301Ile
XM_006715420.1:c.15903G>T	XP_006715483.1:p.Met5301Ile
XM_006715421.1:c.15747G>T	XP_006715484.1:p.Met5249Ile
XM_006715422.1:c.15744G>T	XP_006715485.1:p.Met5248Ile
XM_006715423.1:c.15903G>T	XP_006715486.1:p.Met5301Ile
XM_006715424.1:c.15903G>T	XP_006715487.1:p.Met5301Ile
XM_006715425.1:c.15903G>T	XP_006715488.1:p.Met5301Ile
XM_011535641.1:c.15903G>T	XP_011533943.1:p.Met5301Ile
XM_011535642.1:c.15903G>T	XP_011533944.1:p.Met5301Ile
XM_011535643.1:c.15738G>T	XP_011533945.1:p.Met5246Ile
XM_011535644.1:c.14178G>T	XP_011533946.1:p.Met4726Ile
XM_011535645.1:c.13671G>T	XP_011533947.1:p.Met4557Ile
XM_011535646.1:c.15903G>T	XP_011533948.1:p.Met5301Ile
XM_011535647.1:c.9138G>T	XP_011533949.1:p.Met3046Ile
XM_006715408.2:c.15903G>T	XP_006715471.1:p.Met5301Ile
XM_006715410.2:c.15903G>T	XP_006715473.1:p.Met5301Ile
XM_006715412.2:c.15903G>T	XP_006715475.1:p.Met5301Ile
XM_006715413.2:c.15903G>T	XP_006715476.1:p.Met5301Ile
XM_006715415.2:c.15903G>T	XP_006715478.1:p.Met5301Ile
XM_006715416.2:c.15903G>T	XP_006715479.1:p.Met5301Ile
XM_006715417.2:c.15903G>T	XP_006715480.1:p.Met5301Ile
XM_006715420.2:c.15903G>T	XP_006715483.1:p.Met5301Ile
XM_006715421.2:c.15747G>T	XP_006715484.1:p.Met5249Ile
XM_006715423.2:c.15903G>T	XP_006715486.1:p.Met5301Ile
XM_006715424.2:c.15903G>T	XP_006715487.1:p.Met5301Ile
XM_006715425.2:c.15903G>T	XP_006715488.1:p.Met5301Ile
XM_011535641.2:c.15903G>T	XP_011533943.1:p.Met5301Ile
XM_011535642.2:c.15903G>T	XP_011533944.1:p.Met5301Ile
XM_011535645.2:c.13671G>T	XP_011533947.1:p.Met4557Ile
XM_017010608.1:c.15903G>T	XP_016866097.1:p.Met5301Ile
XM_017010609.1:c.15903G>T	XP_016866098.1:p.Met5301Ile
XM_017010610.1:c.15882G>T	XP_016866099.1:p.Met5294Ile
XM_017010611.2:c.15876G>T	XP_016866100.1:p.Met5292Ile
XM_017010612.1:c.15825G>T	XP_016866101.1:p.Met5275Ile
XM_017010613.1:c.15903G>T	XP_016866102.1:p.Met5301Ile
XM_017010614.1:c.15903G>T	XP_016866103.1:p.Met5301Ile
XM_017010615.1:c.15903G>T	XP_016866104.1:p.Met5301Ile
XM_017010616.1:c.15903G>T	XP_016866105.1:p.Met5301Ile
XM_017010617.1:c.15903G>T	XP_016866106.1:p.Met5301Ile
XM_017010618.1:c.15903G>T	XP_016866107.1:p.Met5301Ile
XM_017010619.1:c.14178G>T	XP_016866108.1:p.Met4726Ile
XR_001743287.1:n.16386G>T
NM_182961.4:c.15882G>T MANE Select	NP_892006.3:p.Met5294Ile
NM_033071.5:c.15669G>T	NP_149062.2:p.Met5223Ile