Canonical Allele Identifier: CA366080378

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461192T>A (hg19) ; chr6:g.152140057T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140057T>A , CM000668.2:g.152140057T>A	GRCh38
NC_000006.11:g.152461192T>A , CM000668.1:g.152461192T>A	GRCh37
NC_000006.10:g.152502885T>A	NCBI36
NG_012855.1:g.502343A>T
NG_012855.2:g.502343A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1885A>T MANE Plus Clinical	ENSP00000346701.4:p.Ser629Cys
ENST00000367255.10:c.25351A>T MANE Select	ENSP00000356224.5:p.Ser8451Cys
ENST00000423061.6:c.25207A>T	ENSP00000396024.1:p.Ser8403Cys
ENST00000672154.1:c.753A>T
ENST00000672169.1:c.1086A>T
ENST00000673173.1:c.995A>T
ENST00000673451.1:c.1123A>T	ENSP00000500189.1:p.Ser375Cys
ENST00000341594.9:c.24136A>T	ENSP00000341887.6:p.Ser8046Cys
ENST00000347037.9:n.2099A>T
ENST00000354674.4:c.1885A>T	ENSP00000346701.4:p.Ser629Cys
ENST00000367251.7:c.4186A>T	ENSP00000356220.3:p.Ser1396Cys
ENST00000367255.9:c.25351A>T	ENSP00000356224.5:p.Ser8451Cys
ENST00000367256.9:n.9043A>T
ENST00000367257.8:c.3289A>T	ENSP00000356226.4:p.Ser1097Cys
ENST00000409694.6:n.8935A>T
ENST00000423061.5:c.25207A>T	ENSP00000396024.1:p.Ser8403Cys
ENST00000460912.6:n.1965A>T
ENST00000478916.5:n.4373A>T
ENST00000536990.5:n.2188A>T
ENST00000539504.5:c.1816A>T	ENSP00000441052.1:p.Ser606Cys
NM_033071.3:c.25207A>T	NP_149062.1:p.Ser8403Cys
NM_182961.3:c.25351A>T	NP_892006.3:p.Ser8451Cys
XM_006715407.1:c.25456A>T	XP_006715470.1:p.Ser8486Cys
XM_006715408.1:c.25444A>T	XP_006715471.1:p.Ser8482Cys
XM_006715409.1:c.25435A>T	XP_006715472.1:p.Ser8479Cys
XM_006715410.1:c.25456A>T	XP_006715473.1:p.Ser8486Cys
XM_006715411.1:c.25405A>T	XP_006715474.1:p.Ser8469Cys
XM_006715412.1:c.25441A>T	XP_006715475.1:p.Ser8481Cys
XM_006715413.1:c.25387A>T	XP_006715476.1:p.Ser8463Cys
XM_006715414.1:c.25384A>T	XP_006715477.1:p.Ser8462Cys
XM_006715415.1:c.25387A>T	XP_006715478.1:p.Ser8463Cys
XM_006715416.1:c.25372A>T	XP_006715479.1:p.Ser8458Cys
XM_006715417.1:c.25315A>T	XP_006715480.1:p.Ser8439Cys
XM_006715420.1:c.25303A>T	XP_006715483.1:p.Ser8435Cys
XM_006715421.1:c.25300A>T	XP_006715484.1:p.Ser8434Cys
XM_006715422.1:c.25297A>T	XP_006715485.1:p.Ser8433Cys
XM_006715423.1:c.25456A>T	XP_006715486.1:p.Ser8486Cys
XM_006715424.1:c.25456A>T	XP_006715487.1:p.Ser8486Cys
XM_006715425.1:c.25387A>T	XP_006715488.1:p.Ser8463Cys
XM_011535641.1:c.25453A>T	XP_011533943.1:p.Ser8485Cys
XM_011535642.1:c.25441A>T	XP_011533944.1:p.Ser8481Cys
XM_011535643.1:c.25291A>T	XP_011533945.1:p.Ser8431Cys
XM_011535644.1:c.23731A>T	XP_011533946.1:p.Ser7911Cys
XM_011535645.1:c.23224A>T	XP_011533947.1:p.Ser7742Cys
XM_011535647.1:c.18691A>T	XP_011533949.1:p.Ser6231Cys
NM_001347701.1:c.1957A>T	NP_001334630.1:p.Ser653Cys
NM_001347702.1:c.1885A>T	NP_001334631.1:p.Ser629Cys
XM_006715408.2:c.25444A>T	XP_006715471.1:p.Ser8482Cys
XM_006715410.2:c.25456A>T	XP_006715473.1:p.Ser8486Cys
XM_006715412.2:c.25441A>T	XP_006715475.1:p.Ser8481Cys
XM_006715413.2:c.25387A>T	XP_006715476.1:p.Ser8463Cys
XM_006715415.2:c.25387A>T	XP_006715478.1:p.Ser8463Cys
XM_006715416.2:c.25372A>T	XP_006715479.1:p.Ser8458Cys
XM_006715417.2:c.25315A>T	XP_006715480.1:p.Ser8439Cys
XM_006715420.2:c.25303A>T	XP_006715483.1:p.Ser8435Cys
XM_006715421.2:c.25300A>T	XP_006715484.1:p.Ser8434Cys
XM_006715423.2:c.25456A>T	XP_006715486.1:p.Ser8486Cys
XM_006715424.2:c.25456A>T	XP_006715487.1:p.Ser8486Cys
XM_006715425.2:c.25387A>T	XP_006715488.1:p.Ser8463Cys
XM_011535641.2:c.25453A>T	XP_011533943.1:p.Ser8485Cys
XM_011535642.2:c.25441A>T	XP_011533944.1:p.Ser8481Cys
XM_011535645.2:c.23224A>T	XP_011533947.1:p.Ser7742Cys
XM_017010608.1:c.25456A>T	XP_016866097.1:p.Ser8486Cys
XM_017010609.1:c.25456A>T	XP_016866098.1:p.Ser8486Cys
XM_017010610.1:c.25435A>T	XP_016866099.1:p.Ser8479Cys
XM_017010611.2:c.25429A>T	XP_016866100.1:p.Ser8477Cys
XM_017010612.1:c.25378A>T	XP_016866101.1:p.Ser8460Cys
XM_017010613.1:c.25384A>T	XP_016866102.1:p.Ser8462Cys
XM_017010614.1:c.25300A>T	XP_016866103.1:p.Ser8434Cys
XM_017010615.1:c.25231A>T	XP_016866104.1:p.Ser8411Cys
XM_017010616.1:c.25387A>T	XP_016866105.1:p.Ser8463Cys
XM_017010617.1:c.25384A>T	XP_016866106.1:p.Ser8462Cys
XM_017010618.1:c.25372A>T	XP_016866107.1:p.Ser8458Cys
XM_017010619.1:c.23731A>T	XP_016866108.1:p.Ser7911Cys
NM_182961.4:c.25351A>T MANE Select	NP_892006.3:p.Ser8451Cys
NM_001347701.2:c.1957A>T	NP_001334630.1:p.Ser653Cys
NM_001347702.2:c.1885A>T MANE Plus Clinical	NP_001334631.1:p.Ser629Cys
NM_033071.5:c.25207A>T	NP_149062.2:p.Ser8403Cys