Canonical Allele Identifier: CA4058679

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 355925
• ClinVar RCV Id: RCV000271625 ; RCV000359407 ; RCV002058572 ; RCV001718767 ; RCV004530437
• dbSNP Id: rs368542446
• ExAC: 6:152763195 A / G
• gnomAD v2: 6-152763195-A-G
• gnomAD v3: 6-152442060-A-G
• gnomAD v4: 6-152442060-A-G
• MyVariant Identifiers: chr6:g.152763195A>G (hg19) ; chr6:g.152442060A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152442060A>G , CM000668.2:g.152442060A>G	GRCh38
NC_000006.11:g.152763195A>G , CM000668.1:g.152763195A>G	GRCh37
NC_000006.10:g.152804888A>G	NCBI36
NG_012855.1:g.200340T>C
NG_012855.2:g.200340T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.4008+15T>C MANE Select	ENSP00000356224.5:n.4008+15T>C
ENST00000423061.6:c.4029+15T>C	ENSP00000396024.1:n.4029+15T>C
ENST00000671915.1:c.1305+15T>C	ENSP00000500319.1:n.1305+15T>C
ENST00000672122.1:c.3951+15T>C	ENSP00000500559.1:n.3951+15T>C
ENST00000673163.1:c.*3978+15T>C	ENSP00000499934.1:n.*3978+15T>C
ENST00000673281.1:c.4002+15T>C	ENSP00000500893.1:n.4002+15T>C
ENST00000341594.9:c.4155+15T>C	ENSP00000341887.6:n.4155+15T>C
ENST00000367248.7:c.3978+15T>C	ENSP00000356217.3:n.3978+15T>C
ENST00000367253.8:c.4008+15T>C	ENSP00000356222.4:n.4008+15T>C
ENST00000367255.9:c.4008+15T>C	ENSP00000356224.5:n.4008+15T>C
ENST00000413186.6:c.4008+15T>C	ENSP00000414510.2:n.4008+15T>C
ENST00000423061.5:c.4029+15T>C	ENSP00000396024.1:n.4029+15T>C
ENST00000461872.6:n.4226+15T>C
NM_033071.3:c.4029+15T>C	NP_149062.1:n.4029+15T>C
NM_182961.3:c.4008+15T>C	NP_892006.3:n.4008+15T>C
XM_006715407.1:c.4029+15T>C	XP_006715470.1:n.4029+15T>C
XM_006715408.1:c.4029+15T>C	XP_006715471.1:n.4029+15T>C
XM_006715409.1:c.4008+15T>C	XP_006715472.1:n.4008+15T>C
XM_006715410.1:c.4029+15T>C	XP_006715473.1:n.4029+15T>C
XM_006715411.1:c.3978+15T>C	XP_006715474.1:n.3978+15T>C
XM_006715412.1:c.4029+15T>C	XP_006715475.1:n.4029+15T>C
XM_006715413.1:c.4029+15T>C	XP_006715476.1:n.4029+15T>C
XM_006715414.1:c.3957+15T>C	XP_006715477.1:n.3957+15T>C
XM_006715415.1:c.4029+15T>C	XP_006715478.1:n.4029+15T>C
XM_006715416.1:c.4029+15T>C	XP_006715479.1:n.4029+15T>C
XM_006715417.1:c.4029+15T>C	XP_006715480.1:n.4029+15T>C
XM_006715420.1:c.4029+15T>C	XP_006715483.1:n.4029+15T>C
XM_006715421.1:c.4029+15T>C	XP_006715484.1:n.4029+15T>C
XM_006715422.1:c.3870+15T>C	XP_006715485.1:n.3870+15T>C
XM_006715423.1:c.4029+15T>C	XP_006715486.1:n.4029+15T>C
XM_006715424.1:c.4029+15T>C	XP_006715487.1:n.4029+15T>C
XM_006715425.1:c.4029+15T>C	XP_006715488.1:n.4029+15T>C
XM_011535641.1:c.4029+15T>C	XP_011533943.1:n.4029+15T>C
XM_011535642.1:c.4029+15T>C	XP_011533944.1:n.4029+15T>C
XM_011535643.1:c.3864+15T>C	XP_011533945.1:n.3864+15T>C
XM_011535644.1:c.2304+15T>C	XP_011533946.1:n.2304+15T>C
XM_011535645.1:c.1797+15T>C	XP_011533947.1:n.1797+15T>C
XM_011535646.1:c.4029+15T>C	XP_011533948.1:n.4029+15T>C
XM_006715408.2:c.4029+15T>C	XP_006715471.1:n.4029+15T>C
XM_006715410.2:c.4029+15T>C	XP_006715473.1:n.4029+15T>C
XM_006715412.2:c.4029+15T>C	XP_006715475.1:n.4029+15T>C
XM_006715413.2:c.4029+15T>C	XP_006715476.1:n.4029+15T>C
XM_006715415.2:c.4029+15T>C	XP_006715478.1:n.4029+15T>C
XM_006715416.2:c.4029+15T>C	XP_006715479.1:n.4029+15T>C
XM_006715417.2:c.4029+15T>C	XP_006715480.1:n.4029+15T>C
XM_006715420.2:c.4029+15T>C	XP_006715483.1:n.4029+15T>C
XM_006715421.2:c.4029+15T>C	XP_006715484.1:n.4029+15T>C
XM_006715423.2:c.4029+15T>C	XP_006715486.1:n.4029+15T>C
XM_006715424.2:c.4029+15T>C	XP_006715487.1:n.4029+15T>C
XM_006715425.2:c.4029+15T>C	XP_006715488.1:n.4029+15T>C
XM_011535641.2:c.4029+15T>C	XP_011533943.1:n.4029+15T>C
XM_011535642.2:c.4029+15T>C	XP_011533944.1:n.4029+15T>C
XM_011535645.2:c.1797+15T>C	XP_011533947.1:n.1797+15T>C
XM_017010608.1:c.4029+15T>C	XP_016866097.1:n.4029+15T>C
XM_017010609.1:c.4029+15T>C	XP_016866098.1:n.4029+15T>C
XM_017010610.1:c.4008+15T>C	XP_016866099.1:n.4008+15T>C
XM_017010611.2:c.4002+15T>C	XP_016866100.1:n.4002+15T>C
XM_017010612.1:c.3951+15T>C	XP_016866101.1:n.3951+15T>C
XM_017010613.1:c.4029+15T>C	XP_016866102.1:n.4029+15T>C
XM_017010614.1:c.4029+15T>C	XP_016866103.1:n.4029+15T>C
XM_017010615.1:c.4029+15T>C	XP_016866104.1:n.4029+15T>C
XM_017010616.1:c.4029+15T>C	XP_016866105.1:n.4029+15T>C
XM_017010617.1:c.4029+15T>C	XP_016866106.1:n.4029+15T>C
XM_017010618.1:c.4029+15T>C	XP_016866107.1:n.4029+15T>C
XM_017010619.1:c.2304+15T>C	XP_016866108.1:n.2304+15T>C
XR_001743287.1:n.4512+15T>C
NM_182961.4:c.4008+15T>C MANE Select	NP_892006.3:n.4008+15T>C
NM_033071.5:c.4029+15T>C	NP_149062.2:n.4029+15T>C