Canonical Allele Identifier: CA4054430

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 288688
• ClinVar RCV Id: RCV000332553 ; RCV000726204 ; RCV001153234 ; RCV001153235
• dbSNP Id: rs753654674
• ExAC: 6:152555915 T / G
• gnomAD v2: 6-152555915-T-G
• gnomAD v3: 6-152234780-T-G
• gnomAD v4: 6-152234780-T-G
• MyVariant Identifiers: chr6:g.152555915T>G (hg19) ; chr6:g.152234780T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152234780T>G , CM000668.2:g.152234780T>G	GRCh38
NC_000006.11:g.152555915T>G , CM000668.1:g.152555915T>G	GRCh37
NC_000006.10:g.152597608T>G	NCBI36
NG_012855.1:g.407620A>C
NG_012855.2:g.407620A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.20417A>C MANE Select	ENSP00000356224.5:p.Asp6806Ala
ENST00000423061.6:c.20204A>C	ENSP00000396024.1:p.Asp6735Ala
ENST00000341594.9:c.19202A>C	ENSP00000341887.6:p.Asp6401Ala
ENST00000367255.9:c.20417A>C	ENSP00000356224.5:p.Asp6806Ala
ENST00000367256.9:n.4109A>C
ENST00000409694.6:n.4001A>C
ENST00000423061.5:c.20204A>C	ENSP00000396024.1:p.Asp6735Ala
NM_033071.3:c.20204A>C	NP_149062.1:p.Asp6735Ala
NM_182961.3:c.20417A>C	NP_892006.3:p.Asp6806Ala
XM_006715407.1:c.20453A>C	XP_006715470.1:p.Asp6818Ala
XM_006715408.1:c.20441A>C	XP_006715471.1:p.Asp6814Ala
XM_006715409.1:c.20432A>C	XP_006715472.1:p.Asp6811Ala
XM_006715410.1:c.20453A>C	XP_006715473.1:p.Asp6818Ala
XM_006715411.1:c.20402A>C	XP_006715474.1:p.Asp6801Ala
XM_006715412.1:c.20438A>C	XP_006715475.1:p.Asp6813Ala
XM_006715413.1:c.20453A>C	XP_006715476.1:p.Asp6818Ala
XM_006715414.1:c.20381A>C	XP_006715477.1:p.Asp6794Ala
XM_006715415.1:c.20453A>C	XP_006715478.1:p.Asp6818Ala
XM_006715416.1:c.20438A>C	XP_006715479.1:p.Asp6813Ala
XM_006715417.1:c.20312A>C	XP_006715480.1:p.Asp6771Ala
XM_006715420.1:c.20300A>C	XP_006715483.1:p.Asp6767Ala
XM_006715421.1:c.20297A>C	XP_006715484.1:p.Asp6766Ala
XM_006715422.1:c.20294A>C	XP_006715485.1:p.Asp6765Ala
XM_006715423.1:c.20453A>C	XP_006715486.1:p.Asp6818Ala
XM_006715424.1:c.20453A>C	XP_006715487.1:p.Asp6818Ala
XM_006715425.1:c.20453A>C	XP_006715488.1:p.Asp6818Ala
XM_011535641.1:c.20450A>C	XP_011533943.1:p.Asp6817Ala
XM_011535642.1:c.20438A>C	XP_011533944.1:p.Asp6813Ala
XM_011535643.1:c.20288A>C	XP_011533945.1:p.Asp6763Ala
XM_011535644.1:c.18728A>C	XP_011533946.1:p.Asp6243Ala
XM_011535645.1:c.18221A>C	XP_011533947.1:p.Asp6074Ala
XM_011535647.1:c.13688A>C	XP_011533949.1:p.Asp4563Ala
XM_006715408.2:c.20441A>C	XP_006715471.1:p.Asp6814Ala
XM_006715410.2:c.20453A>C	XP_006715473.1:p.Asp6818Ala
XM_006715412.2:c.20438A>C	XP_006715475.1:p.Asp6813Ala
XM_006715413.2:c.20453A>C	XP_006715476.1:p.Asp6818Ala
XM_006715415.2:c.20453A>C	XP_006715478.1:p.Asp6818Ala
XM_006715416.2:c.20438A>C	XP_006715479.1:p.Asp6813Ala
XM_006715417.2:c.20312A>C	XP_006715480.1:p.Asp6771Ala
XM_006715420.2:c.20300A>C	XP_006715483.1:p.Asp6767Ala
XM_006715421.2:c.20297A>C	XP_006715484.1:p.Asp6766Ala
XM_006715423.2:c.20453A>C	XP_006715486.1:p.Asp6818Ala
XM_006715424.2:c.20453A>C	XP_006715487.1:p.Asp6818Ala
XM_006715425.2:c.20453A>C	XP_006715488.1:p.Asp6818Ala
XM_011535641.2:c.20450A>C	XP_011533943.1:p.Asp6817Ala
XM_011535642.2:c.20438A>C	XP_011533944.1:p.Asp6813Ala
XM_011535645.2:c.18221A>C	XP_011533947.1:p.Asp6074Ala
XM_017010608.1:c.20453A>C	XP_016866097.1:p.Asp6818Ala
XM_017010609.1:c.20453A>C	XP_016866098.1:p.Asp6818Ala
XM_017010610.1:c.20432A>C	XP_016866099.1:p.Asp6811Ala
XM_017010611.2:c.20426A>C	XP_016866100.1:p.Asp6809Ala
XM_017010612.1:c.20375A>C	XP_016866101.1:p.Asp6792Ala
XM_017010613.1:c.20450A>C	XP_016866102.1:p.Asp6817Ala
XM_017010614.1:c.20297A>C	XP_016866103.1:p.Asp6766Ala
XM_017010615.1:c.20297A>C	XP_016866104.1:p.Asp6766Ala
XM_017010616.1:c.20453A>C	XP_016866105.1:p.Asp6818Ala
XM_017010617.1:c.20450A>C	XP_016866106.1:p.Asp6817Ala
XM_017010618.1:c.20438A>C	XP_016866107.1:p.Asp6813Ala
XM_017010619.1:c.18728A>C	XP_016866108.1:p.Asp6243Ala
NM_182961.4:c.20417A>C MANE Select	NP_892006.3:p.Asp6806Ala
NM_033071.5:c.20204A>C	NP_149062.2:p.Asp6735Ala