Canonical Allele Identifier: CA366082184

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152462409T>A (hg19) ; chr6:g.152141274T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141274T>A , CM000668.2:g.152141274T>A	GRCh38
NC_000006.11:g.152462409T>A , CM000668.1:g.152462409T>A	GRCh37
NC_000006.10:g.152504102T>A	NCBI36
NG_012855.1:g.501126A>T
NG_012855.2:g.501126A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1709A>T MANE Plus Clinical	ENSP00000346701.4:p.His570Leu
ENST00000367255.10:c.25175A>T MANE Select	ENSP00000356224.5:p.His8392Leu
ENST00000423061.6:c.25031A>T	ENSP00000396024.1:p.His8344Leu
ENST00000672154.1:c.577A>T
ENST00000672169.1:c.910A>T
ENST00000673173.1:c.891-1113A>T
ENST00000673451.1:c.947A>T	ENSP00000500189.1:p.His316Leu
ENST00000341594.9:c.23960A>T	ENSP00000341887.6:p.His7987Leu
ENST00000347037.9:n.1923A>T
ENST00000354674.4:c.1709A>T	ENSP00000346701.4:p.His570Leu
ENST00000367251.7:c.4010A>T	ENSP00000356220.3:p.His1337Leu
ENST00000367255.9:c.25175A>T	ENSP00000356224.5:p.His8392Leu
ENST00000367256.9:n.8867A>T
ENST00000367257.8:c.3113A>T	ENSP00000356226.4:p.His1038Leu
ENST00000409694.6:n.8759A>T
ENST00000423061.5:c.25031A>T	ENSP00000396024.1:p.His8344Leu
ENST00000460912.6:n.1789A>T
ENST00000478916.5:n.4197A>T
ENST00000536990.5:n.2012A>T
ENST00000539504.5:c.1640A>T	ENSP00000441052.1:p.His547Leu
NM_033071.3:c.25031A>T	NP_149062.1:p.His8344Leu
NM_182961.3:c.25175A>T	NP_892006.3:p.His8392Leu
XM_006715407.1:c.25280A>T	XP_006715470.1:p.His8427Leu
XM_006715408.1:c.25268A>T	XP_006715471.1:p.His8423Leu
XM_006715409.1:c.25259A>T	XP_006715472.1:p.His8420Leu
XM_006715410.1:c.25280A>T	XP_006715473.1:p.His8427Leu
XM_006715411.1:c.25229A>T	XP_006715474.1:p.His8410Leu
XM_006715412.1:c.25265A>T	XP_006715475.1:p.His8422Leu
XM_006715413.1:c.25211A>T	XP_006715476.1:p.His8404Leu
XM_006715414.1:c.25208A>T	XP_006715477.1:p.His8403Leu
XM_006715415.1:c.25211A>T	XP_006715478.1:p.His8404Leu
XM_006715416.1:c.25196A>T	XP_006715479.1:p.His8399Leu
XM_006715417.1:c.25139A>T	XP_006715480.1:p.His8380Leu
XM_006715420.1:c.25127A>T	XP_006715483.1:p.His8376Leu
XM_006715421.1:c.25124A>T	XP_006715484.1:p.His8375Leu
XM_006715422.1:c.25121A>T	XP_006715485.1:p.His8374Leu
XM_006715423.1:c.25280A>T	XP_006715486.1:p.His8427Leu
XM_006715424.1:c.25280A>T	XP_006715487.1:p.His8427Leu
XM_006715425.1:c.25211A>T	XP_006715488.1:p.His8404Leu
XM_011535641.1:c.25277A>T	XP_011533943.1:p.His8426Leu
XM_011535642.1:c.25265A>T	XP_011533944.1:p.His8422Leu
XM_011535643.1:c.25115A>T	XP_011533945.1:p.His8372Leu
XM_011535644.1:c.23555A>T	XP_011533946.1:p.His7852Leu
XM_011535645.1:c.23048A>T	XP_011533947.1:p.His7683Leu
XM_011535647.1:c.18515A>T	XP_011533949.1:p.His6172Leu
NM_001347701.1:c.1781A>T	NP_001334630.1:p.His594Leu
NM_001347702.1:c.1709A>T	NP_001334631.1:p.His570Leu
XM_006715408.2:c.25268A>T	XP_006715471.1:p.His8423Leu
XM_006715410.2:c.25280A>T	XP_006715473.1:p.His8427Leu
XM_006715412.2:c.25265A>T	XP_006715475.1:p.His8422Leu
XM_006715413.2:c.25211A>T	XP_006715476.1:p.His8404Leu
XM_006715415.2:c.25211A>T	XP_006715478.1:p.His8404Leu
XM_006715416.2:c.25196A>T	XP_006715479.1:p.His8399Leu
XM_006715417.2:c.25139A>T	XP_006715480.1:p.His8380Leu
XM_006715420.2:c.25127A>T	XP_006715483.1:p.His8376Leu
XM_006715421.2:c.25124A>T	XP_006715484.1:p.His8375Leu
XM_006715423.2:c.25280A>T	XP_006715486.1:p.His8427Leu
XM_006715424.2:c.25280A>T	XP_006715487.1:p.His8427Leu
XM_006715425.2:c.25211A>T	XP_006715488.1:p.His8404Leu
XM_011535641.2:c.25277A>T	XP_011533943.1:p.His8426Leu
XM_011535642.2:c.25265A>T	XP_011533944.1:p.His8422Leu
XM_011535645.2:c.23048A>T	XP_011533947.1:p.His7683Leu
XM_017010608.1:c.25280A>T	XP_016866097.1:p.His8427Leu
XM_017010609.1:c.25280A>T	XP_016866098.1:p.His8427Leu
XM_017010610.1:c.25259A>T	XP_016866099.1:p.His8420Leu
XM_017010611.2:c.25253A>T	XP_016866100.1:p.His8418Leu
XM_017010612.1:c.25202A>T	XP_016866101.1:p.His8401Leu
XM_017010613.1:c.25208A>T	XP_016866102.1:p.His8403Leu
XM_017010614.1:c.25124A>T	XP_016866103.1:p.His8375Leu
XM_017010615.1:c.25055A>T	XP_016866104.1:p.His8352Leu
XM_017010616.1:c.25211A>T	XP_016866105.1:p.His8404Leu
XM_017010617.1:c.25208A>T	XP_016866106.1:p.His8403Leu
XM_017010618.1:c.25196A>T	XP_016866107.1:p.His8399Leu
XM_017010619.1:c.23555A>T	XP_016866108.1:p.His7852Leu
NM_182961.4:c.25175A>T MANE Select	NP_892006.3:p.His8392Leu
NM_001347701.2:c.1781A>T	NP_001334630.1:p.His594Leu
NM_001347702.2:c.1709A>T MANE Plus Clinical	NP_001334631.1:p.His570Leu
NM_033071.5:c.25031A>T	NP_149062.2:p.His8344Leu