Canonical Allele Identifier: CA4052898

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 934780
• ClinVar RCV Id: RCV001203245 ; RCV003142130
• dbSNP Id: rs757463285
• ExAC: 6:152462371 C / A
• gnomAD v2: 6-152462371-C-A
• gnomAD v4: 6-152141236-C-A
• MyVariant Identifiers: chr6:g.152462371C>A (hg19) ; chr6:g.152141236C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141236C>A , CM000668.2:g.152141236C>A	GRCh38
NC_000006.11:g.152462371C>A , CM000668.1:g.152462371C>A	GRCh37
NC_000006.10:g.152504064C>A	NCBI36
NG_012855.1:g.501164G>T
NG_012855.2:g.501164G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1747G>T MANE Plus Clinical	ENSP00000346701.4:p.Val583Phe
ENST00000367255.10:c.25213G>T MANE Select	ENSP00000356224.5:p.Val8405Phe
ENST00000423061.6:c.25069G>T	ENSP00000396024.1:p.Val8357Phe
ENST00000672154.1:c.615G>T
ENST00000672169.1:c.948G>T
ENST00000673173.1:c.891-1075G>T
ENST00000673451.1:c.985G>T	ENSP00000500189.1:p.Val329Phe
ENST00000341594.9:c.23998G>T	ENSP00000341887.6:p.Val8000Phe
ENST00000347037.9:n.1961G>T
ENST00000354674.4:c.1747G>T	ENSP00000346701.4:p.Val583Phe
ENST00000367251.7:c.4048G>T	ENSP00000356220.3:p.Val1350Phe
ENST00000367255.9:c.25213G>T	ENSP00000356224.5:p.Val8405Phe
ENST00000367256.9:n.8905G>T
ENST00000367257.8:c.3151G>T	ENSP00000356226.4:p.Val1051Phe
ENST00000409694.6:n.8797G>T
ENST00000423061.5:c.25069G>T	ENSP00000396024.1:p.Val8357Phe
ENST00000460912.6:n.1827G>T
ENST00000478916.5:n.4235G>T
ENST00000536990.5:n.2050G>T
ENST00000539504.5:c.1678G>T	ENSP00000441052.1:p.Val560Phe
NM_033071.3:c.25069G>T	NP_149062.1:p.Val8357Phe
NM_182961.3:c.25213G>T	NP_892006.3:p.Val8405Phe
XM_006715407.1:c.25318G>T	XP_006715470.1:p.Val8440Phe
XM_006715408.1:c.25306G>T	XP_006715471.1:p.Val8436Phe
XM_006715409.1:c.25297G>T	XP_006715472.1:p.Val8433Phe
XM_006715410.1:c.25318G>T	XP_006715473.1:p.Val8440Phe
XM_006715411.1:c.25267G>T	XP_006715474.1:p.Val8423Phe
XM_006715412.1:c.25303G>T	XP_006715475.1:p.Val8435Phe
XM_006715413.1:c.25249G>T	XP_006715476.1:p.Val8417Phe
XM_006715414.1:c.25246G>T	XP_006715477.1:p.Val8416Phe
XM_006715415.1:c.25249G>T	XP_006715478.1:p.Val8417Phe
XM_006715416.1:c.25234G>T	XP_006715479.1:p.Val8412Phe
XM_006715417.1:c.25177G>T	XP_006715480.1:p.Val8393Phe
XM_006715420.1:c.25165G>T	XP_006715483.1:p.Val8389Phe
XM_006715421.1:c.25162G>T	XP_006715484.1:p.Val8388Phe
XM_006715422.1:c.25159G>T	XP_006715485.1:p.Val8387Phe
XM_006715423.1:c.25318G>T	XP_006715486.1:p.Val8440Phe
XM_006715424.1:c.25318G>T	XP_006715487.1:p.Val8440Phe
XM_006715425.1:c.25249G>T	XP_006715488.1:p.Val8417Phe
XM_011535641.1:c.25315G>T	XP_011533943.1:p.Val8439Phe
XM_011535642.1:c.25303G>T	XP_011533944.1:p.Val8435Phe
XM_011535643.1:c.25153G>T	XP_011533945.1:p.Val8385Phe
XM_011535644.1:c.23593G>T	XP_011533946.1:p.Val7865Phe
XM_011535645.1:c.23086G>T	XP_011533947.1:p.Val7696Phe
XM_011535647.1:c.18553G>T	XP_011533949.1:p.Val6185Phe
NM_001347701.1:c.1819G>T	NP_001334630.1:p.Val607Phe
NM_001347702.1:c.1747G>T	NP_001334631.1:p.Val583Phe
XM_006715408.2:c.25306G>T	XP_006715471.1:p.Val8436Phe
XM_006715410.2:c.25318G>T	XP_006715473.1:p.Val8440Phe
XM_006715412.2:c.25303G>T	XP_006715475.1:p.Val8435Phe
XM_006715413.2:c.25249G>T	XP_006715476.1:p.Val8417Phe
XM_006715415.2:c.25249G>T	XP_006715478.1:p.Val8417Phe
XM_006715416.2:c.25234G>T	XP_006715479.1:p.Val8412Phe
XM_006715417.2:c.25177G>T	XP_006715480.1:p.Val8393Phe
XM_006715420.2:c.25165G>T	XP_006715483.1:p.Val8389Phe
XM_006715421.2:c.25162G>T	XP_006715484.1:p.Val8388Phe
XM_006715423.2:c.25318G>T	XP_006715486.1:p.Val8440Phe
XM_006715424.2:c.25318G>T	XP_006715487.1:p.Val8440Phe
XM_006715425.2:c.25249G>T	XP_006715488.1:p.Val8417Phe
XM_011535641.2:c.25315G>T	XP_011533943.1:p.Val8439Phe
XM_011535642.2:c.25303G>T	XP_011533944.1:p.Val8435Phe
XM_011535645.2:c.23086G>T	XP_011533947.1:p.Val7696Phe
XM_017010608.1:c.25318G>T	XP_016866097.1:p.Val8440Phe
XM_017010609.1:c.25318G>T	XP_016866098.1:p.Val8440Phe
XM_017010610.1:c.25297G>T	XP_016866099.1:p.Val8433Phe
XM_017010611.2:c.25291G>T	XP_016866100.1:p.Val8431Phe
XM_017010612.1:c.25240G>T	XP_016866101.1:p.Val8414Phe
XM_017010613.1:c.25246G>T	XP_016866102.1:p.Val8416Phe
XM_017010614.1:c.25162G>T	XP_016866103.1:p.Val8388Phe
XM_017010615.1:c.25093G>T	XP_016866104.1:p.Val8365Phe
XM_017010616.1:c.25249G>T	XP_016866105.1:p.Val8417Phe
XM_017010617.1:c.25246G>T	XP_016866106.1:p.Val8416Phe
XM_017010618.1:c.25234G>T	XP_016866107.1:p.Val8412Phe
XM_017010619.1:c.23593G>T	XP_016866108.1:p.Val7865Phe
NM_182961.4:c.25213G>T MANE Select	NP_892006.3:p.Val8405Phe
NM_001347701.2:c.1819G>T	NP_001334630.1:p.Val607Phe
NM_001347702.2:c.1747G>T MANE Plus Clinical	NP_001334631.1:p.Val583Phe
NM_033071.5:c.25069G>T	NP_149062.2:p.Val8357Phe