Canonical Allele Identifier: CA4057960

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 285099
• ClinVar RCV Id: RCV000647677 ; RCV000383754 ; RCV004535342 ; RCV001697649 ; RCV002521930
• dbSNP Id: rs116721144
• ExAC: 6:152722356 T / C
• gnomAD v2: 6-152722356-T-C
• gnomAD v3: 6-152401221-T-C
• gnomAD v4: 6-152401221-T-C
• MyVariant Identifiers: chr6:g.152722356T>C (hg19) ; chr6:g.152401221T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152401221T>C , CM000668.2:g.152401221T>C	GRCh38
NC_000006.11:g.152722356T>C , CM000668.1:g.152722356T>C	GRCh37
NC_000006.10:g.152764049T>C	NCBI36
NG_012855.1:g.241179A>G
NG_012855.2:g.241179A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.6946A>G MANE Select	ENSP00000356224.5:p.Ile2316Val
ENST00000423061.6:c.6967A>G	ENSP00000396024.1:p.Ile2323Val
ENST00000341594.9:c.7006A>G	ENSP00000341887.6:p.Ile2336Val
ENST00000367255.9:c.6946A>G	ENSP00000356224.5:p.Ile2316Val
ENST00000423061.5:c.6967A>G	ENSP00000396024.1:p.Ile2323Val
ENST00000461872.6:n.7164A>G
NM_033071.3:c.6967A>G	NP_149062.1:p.Ile2323Val
NM_182961.3:c.6946A>G	NP_892006.3:p.Ile2316Val
XM_006715407.1:c.6967A>G	XP_006715470.1:p.Ile2323Val
XM_006715408.1:c.6967A>G	XP_006715471.1:p.Ile2323Val
XM_006715409.1:c.6946A>G	XP_006715472.1:p.Ile2316Val
XM_006715410.1:c.6967A>G	XP_006715473.1:p.Ile2323Val
XM_006715411.1:c.6916A>G	XP_006715474.1:p.Ile2306Val
XM_006715412.1:c.6967A>G	XP_006715475.1:p.Ile2323Val
XM_006715413.1:c.6967A>G	XP_006715476.1:p.Ile2323Val
XM_006715414.1:c.6895A>G	XP_006715477.1:p.Ile2299Val
XM_006715415.1:c.6967A>G	XP_006715478.1:p.Ile2323Val
XM_006715416.1:c.6967A>G	XP_006715479.1:p.Ile2323Val
XM_006715417.1:c.6967A>G	XP_006715480.1:p.Ile2323Val
XM_006715420.1:c.6967A>G	XP_006715483.1:p.Ile2323Val
XM_006715421.1:c.6967A>G	XP_006715484.1:p.Ile2323Val
XM_006715422.1:c.6808A>G	XP_006715485.1:p.Ile2270Val
XM_006715423.1:c.6967A>G	XP_006715486.1:p.Ile2323Val
XM_006715424.1:c.6967A>G	XP_006715487.1:p.Ile2323Val
XM_006715425.1:c.6967A>G	XP_006715488.1:p.Ile2323Val
XM_011535641.1:c.6967A>G	XP_011533943.1:p.Ile2323Val
XM_011535642.1:c.6967A>G	XP_011533944.1:p.Ile2323Val
XM_011535643.1:c.6802A>G	XP_011533945.1:p.Ile2268Val
XM_011535644.1:c.5242A>G	XP_011533946.1:p.Ile1748Val
XM_011535645.1:c.4735A>G	XP_011533947.1:p.Ile1579Val
XM_011535646.1:c.6967A>G	XP_011533948.1:p.Ile2323Val
XM_011535647.1:c.202A>G	XP_011533949.1:p.Ile68Val
XM_006715408.2:c.6967A>G	XP_006715471.1:p.Ile2323Val
XM_006715410.2:c.6967A>G	XP_006715473.1:p.Ile2323Val
XM_006715412.2:c.6967A>G	XP_006715475.1:p.Ile2323Val
XM_006715413.2:c.6967A>G	XP_006715476.1:p.Ile2323Val
XM_006715415.2:c.6967A>G	XP_006715478.1:p.Ile2323Val
XM_006715416.2:c.6967A>G	XP_006715479.1:p.Ile2323Val
XM_006715417.2:c.6967A>G	XP_006715480.1:p.Ile2323Val
XM_006715420.2:c.6967A>G	XP_006715483.1:p.Ile2323Val
XM_006715421.2:c.6967A>G	XP_006715484.1:p.Ile2323Val
XM_006715423.2:c.6967A>G	XP_006715486.1:p.Ile2323Val
XM_006715424.2:c.6967A>G	XP_006715487.1:p.Ile2323Val
XM_006715425.2:c.6967A>G	XP_006715488.1:p.Ile2323Val
XM_011535641.2:c.6967A>G	XP_011533943.1:p.Ile2323Val
XM_011535642.2:c.6967A>G	XP_011533944.1:p.Ile2323Val
XM_011535645.2:c.4735A>G	XP_011533947.1:p.Ile1579Val
XM_017010608.1:c.6967A>G	XP_016866097.1:p.Ile2323Val
XM_017010609.1:c.6967A>G	XP_016866098.1:p.Ile2323Val
XM_017010610.1:c.6946A>G	XP_016866099.1:p.Ile2316Val
XM_017010611.2:c.6940A>G	XP_016866100.1:p.Ile2314Val
XM_017010612.1:c.6889A>G	XP_016866101.1:p.Ile2297Val
XM_017010613.1:c.6967A>G	XP_016866102.1:p.Ile2323Val
XM_017010614.1:c.6967A>G	XP_016866103.1:p.Ile2323Val
XM_017010615.1:c.6967A>G	XP_016866104.1:p.Ile2323Val
XM_017010616.1:c.6967A>G	XP_016866105.1:p.Ile2323Val
XM_017010617.1:c.6967A>G	XP_016866106.1:p.Ile2323Val
XM_017010618.1:c.6967A>G	XP_016866107.1:p.Ile2323Val
XM_017010619.1:c.5242A>G	XP_016866108.1:p.Ile1748Val
XR_001743287.1:n.7450A>G
NM_182961.4:c.6946A>G MANE Select	NP_892006.3:p.Ile2316Val
NM_033071.5:c.6967A>G	NP_149062.2:p.Ile2323Val