Canonical Allele Identifier: CA366099494

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152213729-C-G
• MyVariant Identifiers: chr6:g.152534864C>G (hg19) ; chr6:g.152213729C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213729C>G , CM000668.2:g.152213729C>G	GRCh38
NC_000006.11:g.152534864C>G , CM000668.1:g.152534864C>G	GRCh37
NC_000006.10:g.152576557C>G	NCBI36
NG_012855.1:g.428671G>C
NG_012855.2:g.428671G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22377G>C MANE Select	ENSP00000356224.5:p.Gln7459His
ENST00000423061.6:c.22164G>C	ENSP00000396024.1:p.Gln7388His
ENST00000341594.9:c.21162G>C	ENSP00000341887.6:p.Gln7054His
ENST00000367251.7:c.1143G>C	ENSP00000356220.3:p.Gln381His
ENST00000367255.9:c.22377G>C	ENSP00000356224.5:p.Gln7459His
ENST00000367256.9:n.6069G>C
ENST00000367257.8:c.315G>C	ENSP00000356226.4:p.Gln105His
ENST00000409694.6:n.5961G>C
ENST00000423061.5:c.22164G>C	ENSP00000396024.1:p.Gln7388His
NM_033071.3:c.22164G>C	NP_149062.1:p.Gln7388His
NM_182961.3:c.22377G>C	NP_892006.3:p.Gln7459His
XM_006715407.1:c.22413G>C	XP_006715470.1:p.Gln7471His
XM_006715408.1:c.22401G>C	XP_006715471.1:p.Gln7467His
XM_006715409.1:c.22392G>C	XP_006715472.1:p.Gln7464His
XM_006715410.1:c.22413G>C	XP_006715473.1:p.Gln7471His
XM_006715411.1:c.22362G>C	XP_006715474.1:p.Gln7454His
XM_006715412.1:c.22398G>C	XP_006715475.1:p.Gln7466His
XM_006715413.1:c.22413G>C	XP_006715476.1:p.Gln7471His
XM_006715414.1:c.22341G>C	XP_006715477.1:p.Gln7447His
XM_006715415.1:c.22413G>C	XP_006715478.1:p.Gln7471His
XM_006715416.1:c.22398G>C	XP_006715479.1:p.Gln7466His
XM_006715417.1:c.22272G>C	XP_006715480.1:p.Gln7424His
XM_006715420.1:c.22260G>C	XP_006715483.1:p.Gln7420His
XM_006715421.1:c.22257G>C	XP_006715484.1:p.Gln7419His
XM_006715422.1:c.22254G>C	XP_006715485.1:p.Gln7418His
XM_006715423.1:c.22413G>C	XP_006715486.1:p.Gln7471His
XM_006715424.1:c.22413G>C	XP_006715487.1:p.Gln7471His
XM_006715425.1:c.22413G>C	XP_006715488.1:p.Gln7471His
XM_011535641.1:c.22410G>C	XP_011533943.1:p.Gln7470His
XM_011535642.1:c.22398G>C	XP_011533944.1:p.Gln7466His
XM_011535643.1:c.22248G>C	XP_011533945.1:p.Gln7416His
XM_011535644.1:c.20688G>C	XP_011533946.1:p.Gln6896His
XM_011535645.1:c.20181G>C	XP_011533947.1:p.Gln6727His
XM_011535647.1:c.15648G>C	XP_011533949.1:p.Gln5216His
XM_006715408.2:c.22401G>C	XP_006715471.1:p.Gln7467His
XM_006715410.2:c.22413G>C	XP_006715473.1:p.Gln7471His
XM_006715412.2:c.22398G>C	XP_006715475.1:p.Gln7466His
XM_006715413.2:c.22413G>C	XP_006715476.1:p.Gln7471His
XM_006715415.2:c.22413G>C	XP_006715478.1:p.Gln7471His
XM_006715416.2:c.22398G>C	XP_006715479.1:p.Gln7466His
XM_006715417.2:c.22272G>C	XP_006715480.1:p.Gln7424His
XM_006715420.2:c.22260G>C	XP_006715483.1:p.Gln7420His
XM_006715421.2:c.22257G>C	XP_006715484.1:p.Gln7419His
XM_006715423.2:c.22413G>C	XP_006715486.1:p.Gln7471His
XM_006715424.2:c.22413G>C	XP_006715487.1:p.Gln7471His
XM_006715425.2:c.22413G>C	XP_006715488.1:p.Gln7471His
XM_011535641.2:c.22410G>C	XP_011533943.1:p.Gln7470His
XM_011535642.2:c.22398G>C	XP_011533944.1:p.Gln7466His
XM_011535645.2:c.20181G>C	XP_011533947.1:p.Gln6727His
XM_017010608.1:c.22413G>C	XP_016866097.1:p.Gln7471His
XM_017010609.1:c.22413G>C	XP_016866098.1:p.Gln7471His
XM_017010610.1:c.22392G>C	XP_016866099.1:p.Gln7464His
XM_017010611.2:c.22386G>C	XP_016866100.1:p.Gln7462His
XM_017010612.1:c.22335G>C	XP_016866101.1:p.Gln7445His
XM_017010613.1:c.22410G>C	XP_016866102.1:p.Gln7470His
XM_017010614.1:c.22257G>C	XP_016866103.1:p.Gln7419His
XM_017010615.1:c.22257G>C	XP_016866104.1:p.Gln7419His
XM_017010616.1:c.22413G>C	XP_016866105.1:p.Gln7471His
XM_017010617.1:c.22410G>C	XP_016866106.1:p.Gln7470His
XM_017010618.1:c.22398G>C	XP_016866107.1:p.Gln7466His
XM_017010619.1:c.20688G>C	XP_016866108.1:p.Gln6896His
NM_182961.4:c.22377G>C MANE Select	NP_892006.3:p.Gln7459His
NM_033071.5:c.22164G>C	NP_149062.2:p.Gln7388His