Canonical Allele Identifier: CA2573140659

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 1667550
• ClinVar RCV Id: RCV002189063
• dbSNP Id: rs760126474
• gnomAD v4: 6-152141195-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141195G>C , CM000668.2:g.152141195G>C	GRCh38
NC_000006.11:g.152462330G>C , CM000668.1:g.152462330G>C	GRCh37
NC_000006.10:g.152504023G>C	NCBI36
NG_012855.1:g.501205C>G
NG_012855.2:g.501205C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1780+8C>G MANE Plus Clinical	ENSP00000346701.4:n.1780+8C>G
ENST00000367255.10:c.25246+8C>G MANE Select	ENSP00000356224.5:n.25246+8C>G
ENST00000423061.6:c.25102+8C>G	ENSP00000396024.1:n.25102+8C>G
ENST00000672154.1:c.648+8C>G
ENST00000672169.1:c.981+8C>G
ENST00000673173.1:c.891-1034C>G
ENST00000673451.1:c.1018+8C>G	ENSP00000500189.1:n.1018+8C>G
ENST00000341594.9:c.24031+8C>G	ENSP00000341887.6:n.24031+8C>G
ENST00000347037.9:n.1994+8C>G
ENST00000354674.4:c.1780+8C>G	ENSP00000346701.4:n.1780+8C>G
ENST00000367251.7:c.4081+8C>G	ENSP00000356220.3:n.4081+8C>G
ENST00000367255.9:c.25246+8C>G	ENSP00000356224.5:n.25246+8C>G
ENST00000367256.9:n.8938+8C>G
ENST00000367257.8:c.3184+8C>G	ENSP00000356226.4:n.3184+8C>G
ENST00000409694.6:n.8830+8C>G
ENST00000423061.5:c.25102+8C>G	ENSP00000396024.1:n.25102+8C>G
ENST00000460912.6:n.1860+8C>G
ENST00000478916.5:n.4268+8C>G
ENST00000536990.5:n.2083+8C>G
ENST00000539504.5:c.1711+8C>G	ENSP00000441052.1:n.1711+8C>G
NM_033071.3:c.25102+8C>G	NP_149062.1:n.25102+8C>G
NM_182961.3:c.25246+8C>G	NP_892006.3:n.25246+8C>G
XM_006715407.1:c.25351+8C>G	XP_006715470.1:n.25351+8C>G
XM_006715408.1:c.25339+8C>G	XP_006715471.1:n.25339+8C>G
XM_006715409.1:c.25330+8C>G	XP_006715472.1:n.25330+8C>G
XM_006715410.1:c.25351+8C>G	XP_006715473.1:n.25351+8C>G
XM_006715411.1:c.25300+8C>G	XP_006715474.1:n.25300+8C>G
XM_006715412.1:c.25336+8C>G	XP_006715475.1:n.25336+8C>G
XM_006715413.1:c.25282+8C>G	XP_006715476.1:n.25282+8C>G
XM_006715414.1:c.25279+8C>G	XP_006715477.1:n.25279+8C>G
XM_006715415.1:c.25282+8C>G	XP_006715478.1:n.25282+8C>G
XM_006715416.1:c.25267+8C>G	XP_006715479.1:n.25267+8C>G
XM_006715417.1:c.25210+8C>G	XP_006715480.1:n.25210+8C>G
XM_006715420.1:c.25198+8C>G	XP_006715483.1:n.25198+8C>G
XM_006715421.1:c.25195+8C>G	XP_006715484.1:n.25195+8C>G
XM_006715422.1:c.25192+8C>G	XP_006715485.1:n.25192+8C>G
XM_006715423.1:c.25351+8C>G	XP_006715486.1:n.25351+8C>G
XM_006715424.1:c.25351+8C>G	XP_006715487.1:n.25351+8C>G
XM_006715425.1:c.25282+8C>G	XP_006715488.1:n.25282+8C>G
XM_011535641.1:c.25348+8C>G	XP_011533943.1:n.25348+8C>G
XM_011535642.1:c.25336+8C>G	XP_011533944.1:n.25336+8C>G
XM_011535643.1:c.25186+8C>G	XP_011533945.1:n.25186+8C>G
XM_011535644.1:c.23626+8C>G	XP_011533946.1:n.23626+8C>G
XM_011535645.1:c.23119+8C>G	XP_011533947.1:n.23119+8C>G
XM_011535647.1:c.18586+8C>G	XP_011533949.1:n.18586+8C>G
NM_001347701.1:c.1852+8C>G	NP_001334630.1:n.1852+8C>G
NM_001347702.1:c.1780+8C>G	NP_001334631.1:n.1780+8C>G
XM_006715408.2:c.25339+8C>G	XP_006715471.1:n.25339+8C>G
XM_006715410.2:c.25351+8C>G	XP_006715473.1:n.25351+8C>G
XM_006715412.2:c.25336+8C>G	XP_006715475.1:n.25336+8C>G
XM_006715413.2:c.25282+8C>G	XP_006715476.1:n.25282+8C>G
XM_006715415.2:c.25282+8C>G	XP_006715478.1:n.25282+8C>G
XM_006715416.2:c.25267+8C>G	XP_006715479.1:n.25267+8C>G
XM_006715417.2:c.25210+8C>G	XP_006715480.1:n.25210+8C>G
XM_006715420.2:c.25198+8C>G	XP_006715483.1:n.25198+8C>G
XM_006715421.2:c.25195+8C>G	XP_006715484.1:n.25195+8C>G
XM_006715423.2:c.25351+8C>G	XP_006715486.1:n.25351+8C>G
XM_006715424.2:c.25351+8C>G	XP_006715487.1:n.25351+8C>G
XM_006715425.2:c.25282+8C>G	XP_006715488.1:n.25282+8C>G
XM_011535641.2:c.25348+8C>G	XP_011533943.1:n.25348+8C>G
XM_011535642.2:c.25336+8C>G	XP_011533944.1:n.25336+8C>G
XM_011535645.2:c.23119+8C>G	XP_011533947.1:n.23119+8C>G
XM_017010608.1:c.25351+8C>G	XP_016866097.1:n.25351+8C>G
XM_017010609.1:c.25351+8C>G	XP_016866098.1:n.25351+8C>G
XM_017010610.1:c.25330+8C>G	XP_016866099.1:n.25330+8C>G
XM_017010611.2:c.25324+8C>G	XP_016866100.1:n.25324+8C>G
XM_017010612.1:c.25273+8C>G	XP_016866101.1:n.25273+8C>G
XM_017010613.1:c.25279+8C>G	XP_016866102.1:n.25279+8C>G
XM_017010614.1:c.25195+8C>G	XP_016866103.1:n.25195+8C>G
XM_017010615.1:c.25126+8C>G	XP_016866104.1:n.25126+8C>G
XM_017010616.1:c.25282+8C>G	XP_016866105.1:n.25282+8C>G
XM_017010617.1:c.25279+8C>G	XP_016866106.1:n.25279+8C>G
XM_017010618.1:c.25267+8C>G	XP_016866107.1:n.25267+8C>G
XM_017010619.1:c.23626+8C>G	XP_016866108.1:n.23626+8C>G
NM_182961.4:c.25246+8C>G MANE Select	NP_892006.3:n.25246+8C>G
NM_001347701.2:c.1852+8C>G	NP_001334630.1:n.1852+8C>G
NM_001347702.2:c.1780+8C>G MANE Plus Clinical	NP_001334631.1:n.1780+8C>G
NM_033071.5:c.25102+8C>G	NP_149062.2:n.25102+8C>G