Canonical Allele Identifier: CA4057897

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 355914
• ClinVar RCV Id: RCV000291231 ; RCV000345634 ; RCV000820342
• dbSNP Id: rs199558070
• ExAC: 6:152720813 A / G
• gnomAD v2: 6-152720813-A-G
• gnomAD v3: 6-152399678-A-G
• gnomAD v4: 6-152399678-A-G
• MyVariant Identifiers: chr6:g.152720813A>G (hg19) ; chr6:g.152399678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152399678A>G , CM000668.2:g.152399678A>G	GRCh38
NC_000006.11:g.152720813A>G , CM000668.1:g.152720813A>G	GRCh37
NC_000006.10:g.152762506A>G	NCBI36
NG_012855.1:g.242722T>C
NG_012855.2:g.242722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.7175T>C MANE Select	ENSP00000356224.5:p.Val2392Ala
ENST00000423061.6:c.7196T>C	ENSP00000396024.1:p.Val2399Ala
ENST00000341594.9:c.7235T>C	ENSP00000341887.6:p.Val2412Ala
ENST00000367255.9:c.7175T>C	ENSP00000356224.5:p.Val2392Ala
ENST00000423061.5:c.7196T>C	ENSP00000396024.1:p.Val2399Ala
ENST00000461872.6:n.7393T>C
NM_033071.3:c.7196T>C	NP_149062.1:p.Val2399Ala
NM_182961.3:c.7175T>C	NP_892006.3:p.Val2392Ala
XM_006715407.1:c.7196T>C	XP_006715470.1:p.Val2399Ala
XM_006715408.1:c.7196T>C	XP_006715471.1:p.Val2399Ala
XM_006715409.1:c.7175T>C	XP_006715472.1:p.Val2392Ala
XM_006715410.1:c.7196T>C	XP_006715473.1:p.Val2399Ala
XM_006715411.1:c.7145T>C	XP_006715474.1:p.Val2382Ala
XM_006715412.1:c.7196T>C	XP_006715475.1:p.Val2399Ala
XM_006715413.1:c.7196T>C	XP_006715476.1:p.Val2399Ala
XM_006715414.1:c.7124T>C	XP_006715477.1:p.Val2375Ala
XM_006715415.1:c.7196T>C	XP_006715478.1:p.Val2399Ala
XM_006715416.1:c.7196T>C	XP_006715479.1:p.Val2399Ala
XM_006715417.1:c.7196T>C	XP_006715480.1:p.Val2399Ala
XM_006715420.1:c.7196T>C	XP_006715483.1:p.Val2399Ala
XM_006715421.1:c.7196T>C	XP_006715484.1:p.Val2399Ala
XM_006715422.1:c.7037T>C	XP_006715485.1:p.Val2346Ala
XM_006715423.1:c.7196T>C	XP_006715486.1:p.Val2399Ala
XM_006715424.1:c.7196T>C	XP_006715487.1:p.Val2399Ala
XM_006715425.1:c.7196T>C	XP_006715488.1:p.Val2399Ala
XM_011535641.1:c.7196T>C	XP_011533943.1:p.Val2399Ala
XM_011535642.1:c.7196T>C	XP_011533944.1:p.Val2399Ala
XM_011535643.1:c.7031T>C	XP_011533945.1:p.Val2344Ala
XM_011535644.1:c.5471T>C	XP_011533946.1:p.Val1824Ala
XM_011535645.1:c.4964T>C	XP_011533947.1:p.Val1655Ala
XM_011535646.1:c.7196T>C	XP_011533948.1:p.Val2399Ala
XM_011535647.1:c.431T>C	XP_011533949.1:p.Val144Ala
XM_006715408.2:c.7196T>C	XP_006715471.1:p.Val2399Ala
XM_006715410.2:c.7196T>C	XP_006715473.1:p.Val2399Ala
XM_006715412.2:c.7196T>C	XP_006715475.1:p.Val2399Ala
XM_006715413.2:c.7196T>C	XP_006715476.1:p.Val2399Ala
XM_006715415.2:c.7196T>C	XP_006715478.1:p.Val2399Ala
XM_006715416.2:c.7196T>C	XP_006715479.1:p.Val2399Ala
XM_006715417.2:c.7196T>C	XP_006715480.1:p.Val2399Ala
XM_006715420.2:c.7196T>C	XP_006715483.1:p.Val2399Ala
XM_006715421.2:c.7196T>C	XP_006715484.1:p.Val2399Ala
XM_006715423.2:c.7196T>C	XP_006715486.1:p.Val2399Ala
XM_006715424.2:c.7196T>C	XP_006715487.1:p.Val2399Ala
XM_006715425.2:c.7196T>C	XP_006715488.1:p.Val2399Ala
XM_011535641.2:c.7196T>C	XP_011533943.1:p.Val2399Ala
XM_011535642.2:c.7196T>C	XP_011533944.1:p.Val2399Ala
XM_011535645.2:c.4964T>C	XP_011533947.1:p.Val1655Ala
XM_017010608.1:c.7196T>C	XP_016866097.1:p.Val2399Ala
XM_017010609.1:c.7196T>C	XP_016866098.1:p.Val2399Ala
XM_017010610.1:c.7175T>C	XP_016866099.1:p.Val2392Ala
XM_017010611.2:c.7169T>C	XP_016866100.1:p.Val2390Ala
XM_017010612.1:c.7118T>C	XP_016866101.1:p.Val2373Ala
XM_017010613.1:c.7196T>C	XP_016866102.1:p.Val2399Ala
XM_017010614.1:c.7196T>C	XP_016866103.1:p.Val2399Ala
XM_017010615.1:c.7196T>C	XP_016866104.1:p.Val2399Ala
XM_017010616.1:c.7196T>C	XP_016866105.1:p.Val2399Ala
XM_017010617.1:c.7196T>C	XP_016866106.1:p.Val2399Ala
XM_017010618.1:c.7196T>C	XP_016866107.1:p.Val2399Ala
XM_017010619.1:c.5471T>C	XP_016866108.1:p.Val1824Ala
XR_001743287.1:n.7679T>C
NM_182961.4:c.7175T>C MANE Select	NP_892006.3:p.Val2392Ala
NM_033071.5:c.7196T>C	NP_149062.2:p.Val2399Ala