Canonical Allele Identifier: CA4052901

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 1256377
• ClinVar RCV Id: RCV001663719 ; RCV001859427
• dbSNP Id: rs769976238
• ExAC: 6:152462385 C / A
• gnomAD v2: 6-152462385-C-A
• gnomAD v3: 6-152141250-C-A
• gnomAD v4: 6-152141250-C-A
• COSMIC: COSM1672842 ; COSM1672843 ; COSM1672844
• MyVariant Identifiers: chr6:g.152462385C>A (hg19) ; chr6:g.152141250C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141250C>A , CM000668.2:g.152141250C>A	GRCh38
NC_000006.11:g.152462385C>A , CM000668.1:g.152462385C>A	GRCh37
NC_000006.10:g.152504078C>A	NCBI36
NG_012855.1:g.501150G>T
NG_012855.2:g.501150G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1733G>T MANE Plus Clinical	ENSP00000346701.4:p.Ser578Ile
ENST00000367255.10:c.25199G>T MANE Select	ENSP00000356224.5:p.Ser8400Ile
ENST00000423061.6:c.25055G>T	ENSP00000396024.1:p.Ser8352Ile
ENST00000672154.1:c.601G>T
ENST00000672169.1:c.934G>T
ENST00000673173.1:c.891-1089G>T
ENST00000673451.1:c.971G>T	ENSP00000500189.1:p.Ser324Ile
ENST00000341594.9:c.23984G>T	ENSP00000341887.6:p.Ser7995Ile
ENST00000347037.9:n.1947G>T
ENST00000354674.4:c.1733G>T	ENSP00000346701.4:p.Ser578Ile
ENST00000367251.7:c.4034G>T	ENSP00000356220.3:p.Ser1345Ile
ENST00000367255.9:c.25199G>T	ENSP00000356224.5:p.Ser8400Ile
ENST00000367256.9:n.8891G>T
ENST00000367257.8:c.3137G>T	ENSP00000356226.4:p.Ser1046Ile
ENST00000409694.6:n.8783G>T
ENST00000423061.5:c.25055G>T	ENSP00000396024.1:p.Ser8352Ile
ENST00000460912.6:n.1813G>T
ENST00000478916.5:n.4221G>T
ENST00000536990.5:n.2036G>T
ENST00000539504.5:c.1664G>T	ENSP00000441052.1:p.Ser555Ile
NM_033071.3:c.25055G>T	NP_149062.1:p.Ser8352Ile
NM_182961.3:c.25199G>T	NP_892006.3:p.Ser8400Ile
XM_006715407.1:c.25304G>T	XP_006715470.1:p.Ser8435Ile
XM_006715408.1:c.25292G>T	XP_006715471.1:p.Ser8431Ile
XM_006715409.1:c.25283G>T	XP_006715472.1:p.Ser8428Ile
XM_006715410.1:c.25304G>T	XP_006715473.1:p.Ser8435Ile
XM_006715411.1:c.25253G>T	XP_006715474.1:p.Ser8418Ile
XM_006715412.1:c.25289G>T	XP_006715475.1:p.Ser8430Ile
XM_006715413.1:c.25235G>T	XP_006715476.1:p.Ser8412Ile
XM_006715414.1:c.25232G>T	XP_006715477.1:p.Ser8411Ile
XM_006715415.1:c.25235G>T	XP_006715478.1:p.Ser8412Ile
XM_006715416.1:c.25220G>T	XP_006715479.1:p.Ser8407Ile
XM_006715417.1:c.25163G>T	XP_006715480.1:p.Ser8388Ile
XM_006715420.1:c.25151G>T	XP_006715483.1:p.Ser8384Ile
XM_006715421.1:c.25148G>T	XP_006715484.1:p.Ser8383Ile
XM_006715422.1:c.25145G>T	XP_006715485.1:p.Ser8382Ile
XM_006715423.1:c.25304G>T	XP_006715486.1:p.Ser8435Ile
XM_006715424.1:c.25304G>T	XP_006715487.1:p.Ser8435Ile
XM_006715425.1:c.25235G>T	XP_006715488.1:p.Ser8412Ile
XM_011535641.1:c.25301G>T	XP_011533943.1:p.Ser8434Ile
XM_011535642.1:c.25289G>T	XP_011533944.1:p.Ser8430Ile
XM_011535643.1:c.25139G>T	XP_011533945.1:p.Ser8380Ile
XM_011535644.1:c.23579G>T	XP_011533946.1:p.Ser7860Ile
XM_011535645.1:c.23072G>T	XP_011533947.1:p.Ser7691Ile
XM_011535647.1:c.18539G>T	XP_011533949.1:p.Ser6180Ile
NM_001347701.1:c.1805G>T	NP_001334630.1:p.Ser602Ile
NM_001347702.1:c.1733G>T	NP_001334631.1:p.Ser578Ile
XM_006715408.2:c.25292G>T	XP_006715471.1:p.Ser8431Ile
XM_006715410.2:c.25304G>T	XP_006715473.1:p.Ser8435Ile
XM_006715412.2:c.25289G>T	XP_006715475.1:p.Ser8430Ile
XM_006715413.2:c.25235G>T	XP_006715476.1:p.Ser8412Ile
XM_006715415.2:c.25235G>T	XP_006715478.1:p.Ser8412Ile
XM_006715416.2:c.25220G>T	XP_006715479.1:p.Ser8407Ile
XM_006715417.2:c.25163G>T	XP_006715480.1:p.Ser8388Ile
XM_006715420.2:c.25151G>T	XP_006715483.1:p.Ser8384Ile
XM_006715421.2:c.25148G>T	XP_006715484.1:p.Ser8383Ile
XM_006715423.2:c.25304G>T	XP_006715486.1:p.Ser8435Ile
XM_006715424.2:c.25304G>T	XP_006715487.1:p.Ser8435Ile
XM_006715425.2:c.25235G>T	XP_006715488.1:p.Ser8412Ile
XM_011535641.2:c.25301G>T	XP_011533943.1:p.Ser8434Ile
XM_011535642.2:c.25289G>T	XP_011533944.1:p.Ser8430Ile
XM_011535645.2:c.23072G>T	XP_011533947.1:p.Ser7691Ile
XM_017010608.1:c.25304G>T	XP_016866097.1:p.Ser8435Ile
XM_017010609.1:c.25304G>T	XP_016866098.1:p.Ser8435Ile
XM_017010610.1:c.25283G>T	XP_016866099.1:p.Ser8428Ile
XM_017010611.2:c.25277G>T	XP_016866100.1:p.Ser8426Ile
XM_017010612.1:c.25226G>T	XP_016866101.1:p.Ser8409Ile
XM_017010613.1:c.25232G>T	XP_016866102.1:p.Ser8411Ile
XM_017010614.1:c.25148G>T	XP_016866103.1:p.Ser8383Ile
XM_017010615.1:c.25079G>T	XP_016866104.1:p.Ser8360Ile
XM_017010616.1:c.25235G>T	XP_016866105.1:p.Ser8412Ile
XM_017010617.1:c.25232G>T	XP_016866106.1:p.Ser8411Ile
XM_017010618.1:c.25220G>T	XP_016866107.1:p.Ser8407Ile
XM_017010619.1:c.23579G>T	XP_016866108.1:p.Ser7860Ile
NM_182961.4:c.25199G>T MANE Select	NP_892006.3:p.Ser8400Ile
NM_001347701.2:c.1805G>T	NP_001334630.1:p.Ser602Ile
NM_001347702.2:c.1733G>T MANE Plus Clinical	NP_001334631.1:p.Ser578Ile
NM_033071.5:c.25055G>T	NP_149062.2:p.Ser8352Ile