Canonical Allele Identifier: CA145517

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 92125
• ClinVar RCV Id: RCV000077791 ; RCV000393083 ; RCV000284405 ; RCV000713587 ; RCV000815827
• dbSNP Id: rs180727534
• ExAC: 6:152671811 A / G
• gnomAD v2: 6-152671811-A-G
• gnomAD v3: 6-152350676-A-G
• gnomAD v4: 6-152350676-A-G
• MyVariant Identifiers: chr6:g.152671811A>G (hg19) ; chr6:g.152350676A>G (hg38)
• PubMed: PMID:24123876

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152350676A>G , CM000668.2:g.152350676A>G	GRCh38
NC_000006.11:g.152671811A>G , CM000668.1:g.152671811A>G	GRCh37
NC_000006.10:g.152713504A>G	NCBI36
NG_012855.1:g.291724T>C
NG_012855.2:g.291724T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.11675T>C MANE Select	ENSP00000356224.5:p.Leu3892Ser
ENST00000423061.6:c.11630T>C	ENSP00000396024.1:p.Leu3877Ser
ENST00000341594.9:c.11396T>C	ENSP00000341887.6:p.Leu3799Ser
ENST00000367255.9:c.11675T>C	ENSP00000356224.5:p.Leu3892Ser
ENST00000423061.5:c.11630T>C	ENSP00000396024.1:p.Leu3877Ser
ENST00000471834.1:n.4813T>C
NM_033071.3:c.11630T>C	NP_149062.1:p.Leu3877Ser
NM_182961.3:c.11675T>C	NP_892006.3:p.Leu3892Ser
XM_006715407.1:c.11696T>C	XP_006715470.1:p.Leu3899Ser
XM_006715408.1:c.11696T>C	XP_006715471.1:p.Leu3899Ser
XM_006715409.1:c.11675T>C	XP_006715472.1:p.Leu3892Ser
XM_006715410.1:c.11696T>C	XP_006715473.1:p.Leu3899Ser
XM_006715411.1:c.11645T>C	XP_006715474.1:p.Leu3882Ser
XM_006715412.1:c.11696T>C	XP_006715475.1:p.Leu3899Ser
XM_006715413.1:c.11696T>C	XP_006715476.1:p.Leu3899Ser
XM_006715414.1:c.11624T>C	XP_006715477.1:p.Leu3875Ser
XM_006715415.1:c.11696T>C	XP_006715478.1:p.Leu3899Ser
XM_006715416.1:c.11696T>C	XP_006715479.1:p.Leu3899Ser
XM_006715417.1:c.11696T>C	XP_006715480.1:p.Leu3899Ser
XM_006715420.1:c.11696T>C	XP_006715483.1:p.Leu3899Ser
XM_006715421.1:c.11540T>C	XP_006715484.1:p.Leu3847Ser
XM_006715422.1:c.11537T>C	XP_006715485.1:p.Leu3846Ser
XM_006715423.1:c.11696T>C	XP_006715486.1:p.Leu3899Ser
XM_006715424.1:c.11696T>C	XP_006715487.1:p.Leu3899Ser
XM_006715425.1:c.11696T>C	XP_006715488.1:p.Leu3899Ser
XM_011535641.1:c.11696T>C	XP_011533943.1:p.Leu3899Ser
XM_011535642.1:c.11696T>C	XP_011533944.1:p.Leu3899Ser
XM_011535643.1:c.11531T>C	XP_011533945.1:p.Leu3844Ser
XM_011535644.1:c.9971T>C	XP_011533946.1:p.Leu3324Ser
XM_011535645.1:c.9464T>C	XP_011533947.1:p.Leu3155Ser
XM_011535646.1:c.11696T>C	XP_011533948.1:p.Leu3899Ser
XM_011535647.1:c.4931T>C	XP_011533949.1:p.Leu1644Ser
XM_006715408.2:c.11696T>C	XP_006715471.1:p.Leu3899Ser
XM_006715410.2:c.11696T>C	XP_006715473.1:p.Leu3899Ser
XM_006715412.2:c.11696T>C	XP_006715475.1:p.Leu3899Ser
XM_006715413.2:c.11696T>C	XP_006715476.1:p.Leu3899Ser
XM_006715415.2:c.11696T>C	XP_006715478.1:p.Leu3899Ser
XM_006715416.2:c.11696T>C	XP_006715479.1:p.Leu3899Ser
XM_006715417.2:c.11696T>C	XP_006715480.1:p.Leu3899Ser
XM_006715420.2:c.11696T>C	XP_006715483.1:p.Leu3899Ser
XM_006715421.2:c.11540T>C	XP_006715484.1:p.Leu3847Ser
XM_006715423.2:c.11696T>C	XP_006715486.1:p.Leu3899Ser
XM_006715424.2:c.11696T>C	XP_006715487.1:p.Leu3899Ser
XM_006715425.2:c.11696T>C	XP_006715488.1:p.Leu3899Ser
XM_011535641.2:c.11696T>C	XP_011533943.1:p.Leu3899Ser
XM_011535642.2:c.11696T>C	XP_011533944.1:p.Leu3899Ser
XM_011535645.2:c.9464T>C	XP_011533947.1:p.Leu3155Ser
XM_017010608.1:c.11696T>C	XP_016866097.1:p.Leu3899Ser
XM_017010609.1:c.11696T>C	XP_016866098.1:p.Leu3899Ser
XM_017010610.1:c.11675T>C	XP_016866099.1:p.Leu3892Ser
XM_017010611.2:c.11669T>C	XP_016866100.1:p.Leu3890Ser
XM_017010612.1:c.11618T>C	XP_016866101.1:p.Leu3873Ser
XM_017010613.1:c.11696T>C	XP_016866102.1:p.Leu3899Ser
XM_017010614.1:c.11696T>C	XP_016866103.1:p.Leu3899Ser
XM_017010615.1:c.11696T>C	XP_016866104.1:p.Leu3899Ser
XM_017010616.1:c.11696T>C	XP_016866105.1:p.Leu3899Ser
XM_017010617.1:c.11696T>C	XP_016866106.1:p.Leu3899Ser
XM_017010618.1:c.11696T>C	XP_016866107.1:p.Leu3899Ser
XM_017010619.1:c.9971T>C	XP_016866108.1:p.Leu3324Ser
XR_001743287.1:n.12179T>C
NM_182961.4:c.11675T>C MANE Select	NP_892006.3:p.Leu3892Ser
NM_033071.5:c.11630T>C	NP_149062.2:p.Leu3877Ser