Canonical Allele Identifier: CA150165570

Gene: SYNE1

Linked Data

• dbSNP Id: rs1049056027
• gnomAD v4: 6-152140057-T-C
• MyVariant Identifiers: chr6:g.152461192T>C (hg19) ; chr6:g.152140057T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1885A>G MANE Plus Clinical	ENSP00000346701.4:p.Ser629Gly
ENST00000367255.10:c.25351A>G MANE Select	ENSP00000356224.5:p.Ser8451Gly
ENST00000423061.6:c.25207A>G	ENSP00000396024.1:p.Ser8403Gly
ENST00000672154.1:c.753A>G
ENST00000672169.1:c.1086A>G
ENST00000673173.1:c.995A>G
ENST00000673451.1:c.1123A>G	ENSP00000500189.1:p.Ser375Gly
ENST00000341594.9:c.24136A>G	ENSP00000341887.6:p.Ser8046Gly
ENST00000347037.9:n.2099A>G
ENST00000354674.4:c.1885A>G	ENSP00000346701.4:p.Ser629Gly
ENST00000367251.7:c.4186A>G	ENSP00000356220.3:p.Ser1396Gly
ENST00000367255.9:c.25351A>G	ENSP00000356224.5:p.Ser8451Gly
ENST00000367256.9:n.9043A>G
ENST00000367257.8:c.3289A>G	ENSP00000356226.4:p.Ser1097Gly
ENST00000409694.6:n.8935A>G
ENST00000423061.5:c.25207A>G	ENSP00000396024.1:p.Ser8403Gly
ENST00000460912.6:n.1965A>G
ENST00000478916.5:n.4373A>G
ENST00000536990.5:n.2188A>G
ENST00000539504.5:c.1816A>G	ENSP00000441052.1:p.Ser606Gly
NM_033071.3:c.25207A>G	NP_149062.1:p.Ser8403Gly
NM_182961.3:c.25351A>G	NP_892006.3:p.Ser8451Gly
XM_006715407.1:c.25456A>G	XP_006715470.1:p.Ser8486Gly
XM_006715408.1:c.25444A>G	XP_006715471.1:p.Ser8482Gly
XM_006715409.1:c.25435A>G	XP_006715472.1:p.Ser8479Gly
XM_006715410.1:c.25456A>G	XP_006715473.1:p.Ser8486Gly
XM_006715411.1:c.25405A>G	XP_006715474.1:p.Ser8469Gly
XM_006715412.1:c.25441A>G	XP_006715475.1:p.Ser8481Gly
XM_006715413.1:c.25387A>G	XP_006715476.1:p.Ser8463Gly
XM_006715414.1:c.25384A>G	XP_006715477.1:p.Ser8462Gly
XM_006715415.1:c.25387A>G	XP_006715478.1:p.Ser8463Gly
XM_006715416.1:c.25372A>G	XP_006715479.1:p.Ser8458Gly
XM_006715417.1:c.25315A>G	XP_006715480.1:p.Ser8439Gly
XM_006715420.1:c.25303A>G	XP_006715483.1:p.Ser8435Gly
XM_006715421.1:c.25300A>G	XP_006715484.1:p.Ser8434Gly
XM_006715422.1:c.25297A>G	XP_006715485.1:p.Ser8433Gly
XM_006715423.1:c.25456A>G	XP_006715486.1:p.Ser8486Gly
XM_006715424.1:c.25456A>G	XP_006715487.1:p.Ser8486Gly
XM_006715425.1:c.25387A>G	XP_006715488.1:p.Ser8463Gly
XM_011535641.1:c.25453A>G	XP_011533943.1:p.Ser8485Gly
XM_011535642.1:c.25441A>G	XP_011533944.1:p.Ser8481Gly
XM_011535643.1:c.25291A>G	XP_011533945.1:p.Ser8431Gly
XM_011535644.1:c.23731A>G	XP_011533946.1:p.Ser7911Gly
XM_011535645.1:c.23224A>G	XP_011533947.1:p.Ser7742Gly
XM_011535647.1:c.18691A>G	XP_011533949.1:p.Ser6231Gly
NM_001347701.1:c.1957A>G	NP_001334630.1:p.Ser653Gly
NM_001347702.1:c.1885A>G	NP_001334631.1:p.Ser629Gly
XM_006715408.2:c.25444A>G	XP_006715471.1:p.Ser8482Gly
XM_006715410.2:c.25456A>G	XP_006715473.1:p.Ser8486Gly
XM_006715412.2:c.25441A>G	XP_006715475.1:p.Ser8481Gly
XM_006715413.2:c.25387A>G	XP_006715476.1:p.Ser8463Gly
XM_006715415.2:c.25387A>G	XP_006715478.1:p.Ser8463Gly
XM_006715416.2:c.25372A>G	XP_006715479.1:p.Ser8458Gly
XM_006715417.2:c.25315A>G	XP_006715480.1:p.Ser8439Gly
XM_006715420.2:c.25303A>G	XP_006715483.1:p.Ser8435Gly
XM_006715421.2:c.25300A>G	XP_006715484.1:p.Ser8434Gly
XM_006715423.2:c.25456A>G	XP_006715486.1:p.Ser8486Gly
XM_006715424.2:c.25456A>G	XP_006715487.1:p.Ser8486Gly
XM_006715425.2:c.25387A>G	XP_006715488.1:p.Ser8463Gly
XM_011535641.2:c.25453A>G	XP_011533943.1:p.Ser8485Gly
XM_011535642.2:c.25441A>G	XP_011533944.1:p.Ser8481Gly
XM_011535645.2:c.23224A>G	XP_011533947.1:p.Ser7742Gly
XM_017010608.1:c.25456A>G	XP_016866097.1:p.Ser8486Gly
XM_017010609.1:c.25456A>G	XP_016866098.1:p.Ser8486Gly
XM_017010610.1:c.25435A>G	XP_016866099.1:p.Ser8479Gly
XM_017010611.2:c.25429A>G	XP_016866100.1:p.Ser8477Gly
XM_017010612.1:c.25378A>G	XP_016866101.1:p.Ser8460Gly
XM_017010613.1:c.25384A>G	XP_016866102.1:p.Ser8462Gly
XM_017010614.1:c.25300A>G	XP_016866103.1:p.Ser8434Gly
XM_017010615.1:c.25231A>G	XP_016866104.1:p.Ser8411Gly
XM_017010616.1:c.25387A>G	XP_016866105.1:p.Ser8463Gly
XM_017010617.1:c.25384A>G	XP_016866106.1:p.Ser8462Gly
XM_017010618.1:c.25372A>G	XP_016866107.1:p.Ser8458Gly
XM_017010619.1:c.23731A>G	XP_016866108.1:p.Ser7911Gly
NM_182961.4:c.25351A>G MANE Select	NP_892006.3:p.Ser8451Gly
NM_001347701.2:c.1957A>G	NP_001334630.1:p.Ser653Gly
NM_001347702.2:c.1885A>G MANE Plus Clinical	NP_001334631.1:p.Ser629Gly
NM_033071.5:c.25207A>G	NP_149062.2:p.Ser8403Gly