Canonical Allele Identifier: CA4057568

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 355900
• ClinVar RCV Id: RCV000319308 ; RCV000386205 ; RCV001850886 ; RCV002472995
• dbSNP Id: rs757960938
• ExAC: 6:152708355 A / G
• gnomAD v2: 6-152708355-A-G
• gnomAD v4: 6-152387220-A-G
• COSMIC: COSM4996638 ; COSM4996639 ; COSM4996640 ; COSM4996641 ; COSM4996642
• MyVariant Identifiers: chr6:g.152708355A>G (hg19) ; chr6:g.152387220A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152387220A>G , CM000668.2:g.152387220A>G	GRCh38
NC_000006.11:g.152708355A>G , CM000668.1:g.152708355A>G	GRCh37
NC_000006.10:g.152750048A>G	NCBI36
NG_012855.1:g.255180T>C
NG_012855.2:g.255180T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.8339T>C MANE Select	ENSP00000356224.5:p.Leu2780Pro
ENST00000423061.6:c.8360T>C	ENSP00000396024.1:p.Leu2787Pro
ENST00000341594.9:c.8405T>C	ENSP00000341887.6:p.Leu2802Pro
ENST00000367255.9:c.8339T>C	ENSP00000356224.5:p.Leu2780Pro
ENST00000423061.5:c.8360T>C	ENSP00000396024.1:p.Leu2787Pro
ENST00000461872.6:n.8557T>C
NM_033071.3:c.8360T>C	NP_149062.1:p.Leu2787Pro
NM_182961.3:c.8339T>C	NP_892006.3:p.Leu2780Pro
XM_006715407.1:c.8360T>C	XP_006715470.1:p.Leu2787Pro
XM_006715408.1:c.8360T>C	XP_006715471.1:p.Leu2787Pro
XM_006715409.1:c.8339T>C	XP_006715472.1:p.Leu2780Pro
XM_006715410.1:c.8360T>C	XP_006715473.1:p.Leu2787Pro
XM_006715411.1:c.8309T>C	XP_006715474.1:p.Leu2770Pro
XM_006715412.1:c.8360T>C	XP_006715475.1:p.Leu2787Pro
XM_006715413.1:c.8360T>C	XP_006715476.1:p.Leu2787Pro
XM_006715414.1:c.8288T>C	XP_006715477.1:p.Leu2763Pro
XM_006715415.1:c.8360T>C	XP_006715478.1:p.Leu2787Pro
XM_006715416.1:c.8360T>C	XP_006715479.1:p.Leu2787Pro
XM_006715417.1:c.8360T>C	XP_006715480.1:p.Leu2787Pro
XM_006715420.1:c.8360T>C	XP_006715483.1:p.Leu2787Pro
XM_006715421.1:c.8360T>C	XP_006715484.1:p.Leu2787Pro
XM_006715422.1:c.8201T>C	XP_006715485.1:p.Leu2734Pro
XM_006715423.1:c.8360T>C	XP_006715486.1:p.Leu2787Pro
XM_006715424.1:c.8360T>C	XP_006715487.1:p.Leu2787Pro
XM_006715425.1:c.8360T>C	XP_006715488.1:p.Leu2787Pro
XM_011535641.1:c.8360T>C	XP_011533943.1:p.Leu2787Pro
XM_011535642.1:c.8360T>C	XP_011533944.1:p.Leu2787Pro
XM_011535643.1:c.8195T>C	XP_011533945.1:p.Leu2732Pro
XM_011535644.1:c.6635T>C	XP_011533946.1:p.Leu2212Pro
XM_011535645.1:c.6128T>C	XP_011533947.1:p.Leu2043Pro
XM_011535646.1:c.8360T>C	XP_011533948.1:p.Leu2787Pro
XM_011535647.1:c.1595T>C	XP_011533949.1:p.Leu532Pro
XM_006715408.2:c.8360T>C	XP_006715471.1:p.Leu2787Pro
XM_006715410.2:c.8360T>C	XP_006715473.1:p.Leu2787Pro
XM_006715412.2:c.8360T>C	XP_006715475.1:p.Leu2787Pro
XM_006715413.2:c.8360T>C	XP_006715476.1:p.Leu2787Pro
XM_006715415.2:c.8360T>C	XP_006715478.1:p.Leu2787Pro
XM_006715416.2:c.8360T>C	XP_006715479.1:p.Leu2787Pro
XM_006715417.2:c.8360T>C	XP_006715480.1:p.Leu2787Pro
XM_006715420.2:c.8360T>C	XP_006715483.1:p.Leu2787Pro
XM_006715421.2:c.8360T>C	XP_006715484.1:p.Leu2787Pro
XM_006715423.2:c.8360T>C	XP_006715486.1:p.Leu2787Pro
XM_006715424.2:c.8360T>C	XP_006715487.1:p.Leu2787Pro
XM_006715425.2:c.8360T>C	XP_006715488.1:p.Leu2787Pro
XM_011535641.2:c.8360T>C	XP_011533943.1:p.Leu2787Pro
XM_011535642.2:c.8360T>C	XP_011533944.1:p.Leu2787Pro
XM_011535645.2:c.6128T>C	XP_011533947.1:p.Leu2043Pro
XM_017010608.1:c.8360T>C	XP_016866097.1:p.Leu2787Pro
XM_017010609.1:c.8360T>C	XP_016866098.1:p.Leu2787Pro
XM_017010610.1:c.8339T>C	XP_016866099.1:p.Leu2780Pro
XM_017010611.2:c.8333T>C	XP_016866100.1:p.Leu2778Pro
XM_017010612.1:c.8282T>C	XP_016866101.1:p.Leu2761Pro
XM_017010613.1:c.8360T>C	XP_016866102.1:p.Leu2787Pro
XM_017010614.1:c.8360T>C	XP_016866103.1:p.Leu2787Pro
XM_017010615.1:c.8360T>C	XP_016866104.1:p.Leu2787Pro
XM_017010616.1:c.8360T>C	XP_016866105.1:p.Leu2787Pro
XM_017010617.1:c.8360T>C	XP_016866106.1:p.Leu2787Pro
XM_017010618.1:c.8360T>C	XP_016866107.1:p.Leu2787Pro
XM_017010619.1:c.6635T>C	XP_016866108.1:p.Leu2212Pro
XR_001743287.1:n.8843T>C
NM_182961.4:c.8339T>C MANE Select	NP_892006.3:p.Leu2780Pro
NM_033071.5:c.8360T>C	NP_149062.2:p.Leu2787Pro