Canonical Allele Identifier: CA4056126

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 282206
• ClinVar RCV Id: RCV000725051 ; RCV001152801 ; RCV001152802 ; RCV000647673 ; RCV002518844
• dbSNP Id: rs199761238
• ExAC: 6:152652052 T / C
• gnomAD v2: 6-152652052-T-C
• gnomAD v3: 6-152330917-T-C
• gnomAD v4: 6-152330917-T-C
• MyVariant Identifiers: chr6:g.152652052T>C (hg19) ; chr6:g.152330917T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152330917T>C , CM000668.2:g.152330917T>C	GRCh38
NC_000006.11:g.152652052T>C , CM000668.1:g.152652052T>C	GRCh37
NC_000006.10:g.152693745T>C	NCBI36
NG_012855.1:g.311483A>G
NG_012855.2:g.311483A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.13768A>G MANE Select	ENSP00000356224.5:p.Asn4590Asp
ENST00000423061.6:c.13555A>G	ENSP00000396024.1:p.Asn4519Asp
ENST00000341594.9:c.12958A>G	ENSP00000341887.6:p.Asn4320Asp
ENST00000367255.9:c.13768A>G	ENSP00000356224.5:p.Asn4590Asp
ENST00000423061.5:c.13555A>G	ENSP00000396024.1:p.Asn4519Asp
ENST00000448038.2:c.-2151A>G	ENSP00000390975.2:n.-2151A>G
ENST00000490135.6:n.1114A>G
NM_033071.3:c.13555A>G	NP_149062.1:p.Asn4519Asp
NM_182961.3:c.13768A>G	NP_892006.3:p.Asn4590Asp
XM_006715407.1:c.13789A>G	XP_006715470.1:p.Asn4597Asp
XM_006715408.1:c.13789A>G	XP_006715471.1:p.Asn4597Asp
XM_006715409.1:c.13768A>G	XP_006715472.1:p.Asn4590Asp
XM_006715410.1:c.13789A>G	XP_006715473.1:p.Asn4597Asp
XM_006715411.1:c.13738A>G	XP_006715474.1:p.Asn4580Asp
XM_006715412.1:c.13789A>G	XP_006715475.1:p.Asn4597Asp
XM_006715413.1:c.13789A>G	XP_006715476.1:p.Asn4597Asp
XM_006715414.1:c.13717A>G	XP_006715477.1:p.Asn4573Asp
XM_006715415.1:c.13789A>G	XP_006715478.1:p.Asn4597Asp
XM_006715416.1:c.13789A>G	XP_006715479.1:p.Asn4597Asp
XM_006715417.1:c.13789A>G	XP_006715480.1:p.Asn4597Asp
XM_006715420.1:c.13789A>G	XP_006715483.1:p.Asn4597Asp
XM_006715421.1:c.13633A>G	XP_006715484.1:p.Asn4545Asp
XM_006715422.1:c.13630A>G	XP_006715485.1:p.Asn4544Asp
XM_006715423.1:c.13789A>G	XP_006715486.1:p.Asn4597Asp
XM_006715424.1:c.13789A>G	XP_006715487.1:p.Asn4597Asp
XM_006715425.1:c.13789A>G	XP_006715488.1:p.Asn4597Asp
XM_011535641.1:c.13789A>G	XP_011533943.1:p.Asn4597Asp
XM_011535642.1:c.13789A>G	XP_011533944.1:p.Asn4597Asp
XM_011535643.1:c.13624A>G	XP_011533945.1:p.Asn4542Asp
XM_011535644.1:c.12064A>G	XP_011533946.1:p.Asn4022Asp
XM_011535645.1:c.11557A>G	XP_011533947.1:p.Asn3853Asp
XM_011535646.1:c.13789A>G	XP_011533948.1:p.Asn4597Asp
XM_011535647.1:c.7024A>G	XP_011533949.1:p.Asn2342Asp
XM_006715408.2:c.13789A>G	XP_006715471.1:p.Asn4597Asp
XM_006715410.2:c.13789A>G	XP_006715473.1:p.Asn4597Asp
XM_006715412.2:c.13789A>G	XP_006715475.1:p.Asn4597Asp
XM_006715413.2:c.13789A>G	XP_006715476.1:p.Asn4597Asp
XM_006715415.2:c.13789A>G	XP_006715478.1:p.Asn4597Asp
XM_006715416.2:c.13789A>G	XP_006715479.1:p.Asn4597Asp
XM_006715417.2:c.13789A>G	XP_006715480.1:p.Asn4597Asp
XM_006715420.2:c.13789A>G	XP_006715483.1:p.Asn4597Asp
XM_006715421.2:c.13633A>G	XP_006715484.1:p.Asn4545Asp
XM_006715423.2:c.13789A>G	XP_006715486.1:p.Asn4597Asp
XM_006715424.2:c.13789A>G	XP_006715487.1:p.Asn4597Asp
XM_006715425.2:c.13789A>G	XP_006715488.1:p.Asn4597Asp
XM_011535641.2:c.13789A>G	XP_011533943.1:p.Asn4597Asp
XM_011535642.2:c.13789A>G	XP_011533944.1:p.Asn4597Asp
XM_011535645.2:c.11557A>G	XP_011533947.1:p.Asn3853Asp
XM_017010608.1:c.13789A>G	XP_016866097.1:p.Asn4597Asp
XM_017010609.1:c.13789A>G	XP_016866098.1:p.Asn4597Asp
XM_017010610.1:c.13768A>G	XP_016866099.1:p.Asn4590Asp
XM_017010611.2:c.13762A>G	XP_016866100.1:p.Asn4588Asp
XM_017010612.1:c.13711A>G	XP_016866101.1:p.Asn4571Asp
XM_017010613.1:c.13789A>G	XP_016866102.1:p.Asn4597Asp
XM_017010614.1:c.13789A>G	XP_016866103.1:p.Asn4597Asp
XM_017010615.1:c.13789A>G	XP_016866104.1:p.Asn4597Asp
XM_017010616.1:c.13789A>G	XP_016866105.1:p.Asn4597Asp
XM_017010617.1:c.13789A>G	XP_016866106.1:p.Asn4597Asp
XM_017010618.1:c.13789A>G	XP_016866107.1:p.Asn4597Asp
XM_017010619.1:c.12064A>G	XP_016866108.1:p.Asn4022Asp
XR_001743287.1:n.14272A>G
NM_182961.4:c.13768A>G MANE Select	NP_892006.3:p.Asn4590Asp
NM_033071.5:c.13555A>G	NP_149062.2:p.Asn4519Asp