Canonical Allele Identifier: CA366080874

Gene: SYNE1

Linked Data

• dbSNP Id: rs1377286405
• gnomAD v4: 6-152140128-T-C
• MyVariant Identifiers: chr6:g.152461263T>C (hg19) ; chr6:g.152140128T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140128T>C , CM000668.2:g.152140128T>C	GRCh38
NC_000006.11:g.152461263T>C , CM000668.1:g.152461263T>C	GRCh37
NC_000006.10:g.152502956T>C	NCBI36
NG_012855.1:g.502272A>G
NG_012855.2:g.502272A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1814A>G MANE Plus Clinical	ENSP00000346701.4:p.Gln605Arg
ENST00000367255.10:c.25280A>G MANE Select	ENSP00000356224.5:p.Gln8427Arg
ENST00000423061.6:c.25136A>G	ENSP00000396024.1:p.Gln8379Arg
ENST00000672154.1:c.682A>G
ENST00000672169.1:c.1015A>G
ENST00000673173.1:c.924A>G
ENST00000673451.1:c.1052A>G	ENSP00000500189.1:p.Gln351Arg
ENST00000341594.9:c.24065A>G	ENSP00000341887.6:p.Gln8022Arg
ENST00000347037.9:n.2028A>G
ENST00000354674.4:c.1814A>G	ENSP00000346701.4:p.Gln605Arg
ENST00000367251.7:c.4115A>G	ENSP00000356220.3:p.Gln1372Arg
ENST00000367255.9:c.25280A>G	ENSP00000356224.5:p.Gln8427Arg
ENST00000367256.9:n.8972A>G
ENST00000367257.8:c.3218A>G	ENSP00000356226.4:p.Gln1073Arg
ENST00000409694.6:n.8864A>G
ENST00000423061.5:c.25136A>G	ENSP00000396024.1:p.Gln8379Arg
ENST00000460912.6:n.1894A>G
ENST00000478916.5:n.4302A>G
ENST00000536990.5:n.2117A>G
ENST00000539504.5:c.1745A>G	ENSP00000441052.1:p.Gln582Arg
NM_033071.3:c.25136A>G	NP_149062.1:p.Gln8379Arg
NM_182961.3:c.25280A>G	NP_892006.3:p.Gln8427Arg
XM_006715407.1:c.25385A>G	XP_006715470.1:p.Gln8462Arg
XM_006715408.1:c.25373A>G	XP_006715471.1:p.Gln8458Arg
XM_006715409.1:c.25364A>G	XP_006715472.1:p.Gln8455Arg
XM_006715410.1:c.25385A>G	XP_006715473.1:p.Gln8462Arg
XM_006715411.1:c.25334A>G	XP_006715474.1:p.Gln8445Arg
XM_006715412.1:c.25370A>G	XP_006715475.1:p.Gln8457Arg
XM_006715413.1:c.25316A>G	XP_006715476.1:p.Gln8439Arg
XM_006715414.1:c.25313A>G	XP_006715477.1:p.Gln8438Arg
XM_006715415.1:c.25316A>G	XP_006715478.1:p.Gln8439Arg
XM_006715416.1:c.25301A>G	XP_006715479.1:p.Gln8434Arg
XM_006715417.1:c.25244A>G	XP_006715480.1:p.Gln8415Arg
XM_006715420.1:c.25232A>G	XP_006715483.1:p.Gln8411Arg
XM_006715421.1:c.25229A>G	XP_006715484.1:p.Gln8410Arg
XM_006715422.1:c.25226A>G	XP_006715485.1:p.Gln8409Arg
XM_006715423.1:c.25385A>G	XP_006715486.1:p.Gln8462Arg
XM_006715424.1:c.25385A>G	XP_006715487.1:p.Gln8462Arg
XM_006715425.1:c.25316A>G	XP_006715488.1:p.Gln8439Arg
XM_011535641.1:c.25382A>G	XP_011533943.1:p.Gln8461Arg
XM_011535642.1:c.25370A>G	XP_011533944.1:p.Gln8457Arg
XM_011535643.1:c.25220A>G	XP_011533945.1:p.Gln8407Arg
XM_011535644.1:c.23660A>G	XP_011533946.1:p.Gln7887Arg
XM_011535645.1:c.23153A>G	XP_011533947.1:p.Gln7718Arg
XM_011535647.1:c.18620A>G	XP_011533949.1:p.Gln6207Arg
NM_001347701.1:c.1886A>G	NP_001334630.1:p.Gln629Arg
NM_001347702.1:c.1814A>G	NP_001334631.1:p.Gln605Arg
XM_006715408.2:c.25373A>G	XP_006715471.1:p.Gln8458Arg
XM_006715410.2:c.25385A>G	XP_006715473.1:p.Gln8462Arg
XM_006715412.2:c.25370A>G	XP_006715475.1:p.Gln8457Arg
XM_006715413.2:c.25316A>G	XP_006715476.1:p.Gln8439Arg
XM_006715415.2:c.25316A>G	XP_006715478.1:p.Gln8439Arg
XM_006715416.2:c.25301A>G	XP_006715479.1:p.Gln8434Arg
XM_006715417.2:c.25244A>G	XP_006715480.1:p.Gln8415Arg
XM_006715420.2:c.25232A>G	XP_006715483.1:p.Gln8411Arg
XM_006715421.2:c.25229A>G	XP_006715484.1:p.Gln8410Arg
XM_006715423.2:c.25385A>G	XP_006715486.1:p.Gln8462Arg
XM_006715424.2:c.25385A>G	XP_006715487.1:p.Gln8462Arg
XM_006715425.2:c.25316A>G	XP_006715488.1:p.Gln8439Arg
XM_011535641.2:c.25382A>G	XP_011533943.1:p.Gln8461Arg
XM_011535642.2:c.25370A>G	XP_011533944.1:p.Gln8457Arg
XM_011535645.2:c.23153A>G	XP_011533947.1:p.Gln7718Arg
XM_017010608.1:c.25385A>G	XP_016866097.1:p.Gln8462Arg
XM_017010609.1:c.25385A>G	XP_016866098.1:p.Gln8462Arg
XM_017010610.1:c.25364A>G	XP_016866099.1:p.Gln8455Arg
XM_017010611.2:c.25358A>G	XP_016866100.1:p.Gln8453Arg
XM_017010612.1:c.25307A>G	XP_016866101.1:p.Gln8436Arg
XM_017010613.1:c.25313A>G	XP_016866102.1:p.Gln8438Arg
XM_017010614.1:c.25229A>G	XP_016866103.1:p.Gln8410Arg
XM_017010615.1:c.25160A>G	XP_016866104.1:p.Gln8387Arg
XM_017010616.1:c.25316A>G	XP_016866105.1:p.Gln8439Arg
XM_017010617.1:c.25313A>G	XP_016866106.1:p.Gln8438Arg
XM_017010618.1:c.25301A>G	XP_016866107.1:p.Gln8434Arg
XM_017010619.1:c.23660A>G	XP_016866108.1:p.Gln7887Arg
NM_182961.4:c.25280A>G MANE Select	NP_892006.3:p.Gln8427Arg
NM_001347701.2:c.1886A>G	NP_001334630.1:p.Gln629Arg
NM_001347702.2:c.1814A>G MANE Plus Clinical	NP_001334631.1:p.Gln605Arg
NM_033071.5:c.25136A>G	NP_149062.2:p.Gln8379Arg