Canonical Allele Identifier: CA452751366

Gene: SYNE1

Linked Data

• dbSNP Id: rs1478187244
• gnomAD v2: 6-152621785-A-C
• gnomAD v4: 6-152300650-A-C
• MyVariant Identifiers: chr6:g.152621785A>C (hg19) ; chr6:g.152300650A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152300650A>C , CM000668.2:g.152300650A>C	GRCh38
NC_000006.11:g.152621785A>C , CM000668.1:g.152621785A>C	GRCh37
NC_000006.10:g.152663478A>C	NCBI36
NG_012855.1:g.341750T>G
NG_012855.2:g.341750T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367255.10:c.17673T>G MANE Select	ENSP00000356224.5:p.Ser5891=
ENST00000423061.6:c.17460T>G	ENSP00000396024.1:p.Ser5820=
ENST00000341594.9:c.16458T>G	ENSP00000341887.6:p.Ser5486=
ENST00000367255.9:c.17673T>G	ENSP00000356224.5:p.Ser5891=
ENST00000367256.9:n.1365T>G
ENST00000409694.6:n.1257T>G
ENST00000423061.5:c.17460T>G	ENSP00000396024.1:p.Ser5820=
ENST00000489156.1:n.401+1219T>G
ENST00000537033.1:c.339T>G	ENSP00000443879.1:p.Ser113=
ENST00000540663.5:c.207+1219T>G	ENSP00000437411.1:n.207+1219T>G
NM_033071.3:c.17460T>G	NP_149062.1:p.Ser5820=
NM_182961.3:c.17673T>G	NP_892006.3:p.Ser5891=
XM_006715407.1:c.17694T>G	XP_006715470.1:p.Ser5898=
XM_006715408.1:c.17694T>G	XP_006715471.1:p.Ser5898=
XM_006715409.1:c.17673T>G	XP_006715472.1:p.Ser5891=
XM_006715410.1:c.17694T>G	XP_006715473.1:p.Ser5898=
XM_006715411.1:c.17643T>G	XP_006715474.1:p.Ser5881=
XM_006715412.1:c.17694T>G	XP_006715475.1:p.Ser5898=
XM_006715413.1:c.17694T>G	XP_006715476.1:p.Ser5898=
XM_006715414.1:c.17622T>G	XP_006715477.1:p.Ser5874=
XM_006715415.1:c.17694T>G	XP_006715478.1:p.Ser5898=
XM_006715416.1:c.17694T>G	XP_006715479.1:p.Ser5898=
XM_006715417.1:c.17562+1219T>G	XP_006715480.1:n.17562+1219T>G
XM_006715420.1:c.17562+1219T>G	XP_006715483.1:n.17562+1219T>G
XM_006715421.1:c.17538T>G	XP_006715484.1:p.Ser5846=
XM_006715422.1:c.17535T>G	XP_006715485.1:p.Ser5845=
XM_006715423.1:c.17694T>G	XP_006715486.1:p.Ser5898=
XM_006715424.1:c.17694T>G	XP_006715487.1:p.Ser5898=
XM_006715425.1:c.17694T>G	XP_006715488.1:p.Ser5898=
XM_011535641.1:c.17694T>G	XP_011533943.1:p.Ser5898=
XM_011535642.1:c.17694T>G	XP_011533944.1:p.Ser5898=
XM_011535643.1:c.17529T>G	XP_011533945.1:p.Ser5843=
XM_011535644.1:c.15969T>G	XP_011533946.1:p.Ser5323=
XM_011535645.1:c.15462T>G	XP_011533947.1:p.Ser5154=
XM_011535646.1:c.17694T>G	XP_011533948.1:p.Ser5898=
XM_011535647.1:c.10929T>G	XP_011533949.1:p.Ser3643=
XM_006715408.2:c.17694T>G	XP_006715471.1:p.Ser5898=
XM_006715410.2:c.17694T>G	XP_006715473.1:p.Ser5898=
XM_006715412.2:c.17694T>G	XP_006715475.1:p.Ser5898=
XM_006715413.2:c.17694T>G	XP_006715476.1:p.Ser5898=
XM_006715415.2:c.17694T>G	XP_006715478.1:p.Ser5898=
XM_006715416.2:c.17694T>G	XP_006715479.1:p.Ser5898=
XM_006715417.2:c.17562+1219T>G	XP_006715480.1:n.17562+1219T>G
XM_006715420.2:c.17562+1219T>G	XP_006715483.1:n.17562+1219T>G
XM_006715421.2:c.17538T>G	XP_006715484.1:p.Ser5846=
XM_006715423.2:c.17694T>G	XP_006715486.1:p.Ser5898=
XM_006715424.2:c.17694T>G	XP_006715487.1:p.Ser5898=
XM_006715425.2:c.17694T>G	XP_006715488.1:p.Ser5898=
XM_011535641.2:c.17694T>G	XP_011533943.1:p.Ser5898=
XM_011535642.2:c.17694T>G	XP_011533944.1:p.Ser5898=
XM_011535645.2:c.15462T>G	XP_011533947.1:p.Ser5154=
XM_017010608.1:c.17694T>G	XP_016866097.1:p.Ser5898=
XM_017010609.1:c.17694T>G	XP_016866098.1:p.Ser5898=
XM_017010610.1:c.17673T>G	XP_016866099.1:p.Ser5891=
XM_017010611.2:c.17667T>G	XP_016866100.1:p.Ser5889=
XM_017010612.1:c.17616T>G	XP_016866101.1:p.Ser5872=
XM_017010613.1:c.17694T>G	XP_016866102.1:p.Ser5898=
XM_017010614.1:c.17562+1219T>G	XP_016866103.1:n.17562+1219T>G
XM_017010615.1:c.17562+1219T>G	XP_016866104.1:n.17562+1219T>G
XM_017010616.1:c.17694T>G	XP_016866105.1:p.Ser5898=
XM_017010617.1:c.17694T>G	XP_016866106.1:p.Ser5898=
XM_017010618.1:c.17694T>G	XP_016866107.1:p.Ser5898=
XM_017010619.1:c.15969T>G	XP_016866108.1:p.Ser5323=
XR_001743287.1:n.18177T>G
NM_182961.4:c.17673T>G MANE Select	NP_892006.3:p.Ser5891=
NM_033071.5:c.17460T>G	NP_149062.2:p.Ser5820=