Canonical Allele Identifier: CA4053756

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 290926
• ClinVar RCV Id: RCV000262353 ; RCV000319442 ; RCV000713636 ; RCV001506217
• dbSNP Id: rs201497427
• ExAC: 6:152527412 C / G
• gnomAD v2: 6-152527412-C-G
• gnomAD v3: 6-152206277-C-G
• gnomAD v4: 6-152206277-C-G
• MyVariant Identifiers: chr6:g.152527412C>G (hg19) ; chr6:g.152206277C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152206277C>G , CM000668.2:g.152206277C>G	GRCh38
NC_000006.11:g.152527412C>G , CM000668.1:g.152527412C>G	GRCh37
NC_000006.10:g.152569105C>G	NCBI36
NG_012855.1:g.436123G>C
NG_012855.2:g.436123G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22910G>C MANE Select	ENSP00000356224.5:p.Ser7637Thr
ENST00000423061.6:c.22697G>C	ENSP00000396024.1:p.Ser7566Thr
ENST00000341594.9:c.21695G>C	ENSP00000341887.6:p.Ser7232Thr
ENST00000367251.7:c.1676G>C	ENSP00000356220.3:p.Ser559Thr
ENST00000367255.9:c.22910G>C	ENSP00000356224.5:p.Ser7637Thr
ENST00000367256.9:n.6602G>C
ENST00000367257.8:c.848G>C	ENSP00000356226.4:p.Ser283Thr
ENST00000409694.6:n.6494G>C
ENST00000423061.5:c.22697G>C	ENSP00000396024.1:p.Ser7566Thr
NM_033071.3:c.22697G>C	NP_149062.1:p.Ser7566Thr
NM_182961.3:c.22910G>C	NP_892006.3:p.Ser7637Thr
XM_006715407.1:c.22946G>C	XP_006715470.1:p.Ser7649Thr
XM_006715408.1:c.22934G>C	XP_006715471.1:p.Ser7645Thr
XM_006715409.1:c.22925G>C	XP_006715472.1:p.Ser7642Thr
XM_006715410.1:c.22946G>C	XP_006715473.1:p.Ser7649Thr
XM_006715411.1:c.22895G>C	XP_006715474.1:p.Ser7632Thr
XM_006715412.1:c.22931G>C	XP_006715475.1:p.Ser7644Thr
XM_006715413.1:c.22946G>C	XP_006715476.1:p.Ser7649Thr
XM_006715414.1:c.22874G>C	XP_006715477.1:p.Ser7625Thr
XM_006715415.1:c.22946G>C	XP_006715478.1:p.Ser7649Thr
XM_006715416.1:c.22931G>C	XP_006715479.1:p.Ser7644Thr
XM_006715417.1:c.22805G>C	XP_006715480.1:p.Ser7602Thr
XM_006715420.1:c.22793G>C	XP_006715483.1:p.Ser7598Thr
XM_006715421.1:c.22790G>C	XP_006715484.1:p.Ser7597Thr
XM_006715422.1:c.22787G>C	XP_006715485.1:p.Ser7596Thr
XM_006715423.1:c.22946G>C	XP_006715486.1:p.Ser7649Thr
XM_006715424.1:c.22946G>C	XP_006715487.1:p.Ser7649Thr
XM_006715425.1:c.22946G>C	XP_006715488.1:p.Ser7649Thr
XM_011535641.1:c.22943G>C	XP_011533943.1:p.Ser7648Thr
XM_011535642.1:c.22931G>C	XP_011533944.1:p.Ser7644Thr
XM_011535643.1:c.22781G>C	XP_011533945.1:p.Ser7594Thr
XM_011535644.1:c.21221G>C	XP_011533946.1:p.Ser7074Thr
XM_011535645.1:c.20714G>C	XP_011533947.1:p.Ser6905Thr
XM_011535647.1:c.16181G>C	XP_011533949.1:p.Ser5394Thr
XM_006715408.2:c.22934G>C	XP_006715471.1:p.Ser7645Thr
XM_006715410.2:c.22946G>C	XP_006715473.1:p.Ser7649Thr
XM_006715412.2:c.22931G>C	XP_006715475.1:p.Ser7644Thr
XM_006715413.2:c.22946G>C	XP_006715476.1:p.Ser7649Thr
XM_006715415.2:c.22946G>C	XP_006715478.1:p.Ser7649Thr
XM_006715416.2:c.22931G>C	XP_006715479.1:p.Ser7644Thr
XM_006715417.2:c.22805G>C	XP_006715480.1:p.Ser7602Thr
XM_006715420.2:c.22793G>C	XP_006715483.1:p.Ser7598Thr
XM_006715421.2:c.22790G>C	XP_006715484.1:p.Ser7597Thr
XM_006715423.2:c.22946G>C	XP_006715486.1:p.Ser7649Thr
XM_006715424.2:c.22946G>C	XP_006715487.1:p.Ser7649Thr
XM_006715425.2:c.22946G>C	XP_006715488.1:p.Ser7649Thr
XM_011535641.2:c.22943G>C	XP_011533943.1:p.Ser7648Thr
XM_011535642.2:c.22931G>C	XP_011533944.1:p.Ser7644Thr
XM_011535645.2:c.20714G>C	XP_011533947.1:p.Ser6905Thr
XM_017010608.1:c.22946G>C	XP_016866097.1:p.Ser7649Thr
XM_017010609.1:c.22946G>C	XP_016866098.1:p.Ser7649Thr
XM_017010610.1:c.22925G>C	XP_016866099.1:p.Ser7642Thr
XM_017010611.2:c.22919G>C	XP_016866100.1:p.Ser7640Thr
XM_017010612.1:c.22868G>C	XP_016866101.1:p.Ser7623Thr
XM_017010613.1:c.22943G>C	XP_016866102.1:p.Ser7648Thr
XM_017010614.1:c.22790G>C	XP_016866103.1:p.Ser7597Thr
XM_017010615.1:c.22790G>C	XP_016866104.1:p.Ser7597Thr
XM_017010616.1:c.22946G>C	XP_016866105.1:p.Ser7649Thr
XM_017010617.1:c.22943G>C	XP_016866106.1:p.Ser7648Thr
XM_017010618.1:c.22931G>C	XP_016866107.1:p.Ser7644Thr
XM_017010619.1:c.21221G>C	XP_016866108.1:p.Ser7074Thr
NM_182961.4:c.22910G>C MANE Select	NP_892006.3:p.Ser7637Thr
NM_033071.5:c.22697G>C	NP_149062.2:p.Ser7566Thr