Canonical Allele Identifier: CA366080842

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461258A>C (hg19) ; chr6:g.152140123A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140123A>C , CM000668.2:g.152140123A>C	GRCh38
NC_000006.11:g.152461258A>C , CM000668.1:g.152461258A>C	GRCh37
NC_000006.10:g.152502951A>C	NCBI36
NG_012855.1:g.502277T>G
NG_012855.2:g.502277T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1819T>G MANE Plus Clinical	ENSP00000346701.4:p.Leu607Val
ENST00000367255.10:c.25285T>G MANE Select	ENSP00000356224.5:p.Leu8429Val
ENST00000423061.6:c.25141T>G	ENSP00000396024.1:p.Leu8381Val
ENST00000672154.1:c.687T>G
ENST00000672169.1:c.1020T>G
ENST00000673173.1:c.929T>G
ENST00000673451.1:c.1057T>G	ENSP00000500189.1:p.Leu353Val
ENST00000341594.9:c.24070T>G	ENSP00000341887.6:p.Leu8024Val
ENST00000347037.9:n.2033T>G
ENST00000354674.4:c.1819T>G	ENSP00000346701.4:p.Leu607Val
ENST00000367251.7:c.4120T>G	ENSP00000356220.3:p.Leu1374Val
ENST00000367255.9:c.25285T>G	ENSP00000356224.5:p.Leu8429Val
ENST00000367256.9:n.8977T>G
ENST00000367257.8:c.3223T>G	ENSP00000356226.4:p.Leu1075Val
ENST00000409694.6:n.8869T>G
ENST00000423061.5:c.25141T>G	ENSP00000396024.1:p.Leu8381Val
ENST00000460912.6:n.1899T>G
ENST00000478916.5:n.4307T>G
ENST00000536990.5:n.2122T>G
ENST00000539504.5:c.1750T>G	ENSP00000441052.1:p.Leu584Val
NM_033071.3:c.25141T>G	NP_149062.1:p.Leu8381Val
NM_182961.3:c.25285T>G	NP_892006.3:p.Leu8429Val
XM_006715407.1:c.25390T>G	XP_006715470.1:p.Leu8464Val
XM_006715408.1:c.25378T>G	XP_006715471.1:p.Leu8460Val
XM_006715409.1:c.25369T>G	XP_006715472.1:p.Leu8457Val
XM_006715410.1:c.25390T>G	XP_006715473.1:p.Leu8464Val
XM_006715411.1:c.25339T>G	XP_006715474.1:p.Leu8447Val
XM_006715412.1:c.25375T>G	XP_006715475.1:p.Leu8459Val
XM_006715413.1:c.25321T>G	XP_006715476.1:p.Leu8441Val
XM_006715414.1:c.25318T>G	XP_006715477.1:p.Leu8440Val
XM_006715415.1:c.25321T>G	XP_006715478.1:p.Leu8441Val
XM_006715416.1:c.25306T>G	XP_006715479.1:p.Leu8436Val
XM_006715417.1:c.25249T>G	XP_006715480.1:p.Leu8417Val
XM_006715420.1:c.25237T>G	XP_006715483.1:p.Leu8413Val
XM_006715421.1:c.25234T>G	XP_006715484.1:p.Leu8412Val
XM_006715422.1:c.25231T>G	XP_006715485.1:p.Leu8411Val
XM_006715423.1:c.25390T>G	XP_006715486.1:p.Leu8464Val
XM_006715424.1:c.25390T>G	XP_006715487.1:p.Leu8464Val
XM_006715425.1:c.25321T>G	XP_006715488.1:p.Leu8441Val
XM_011535641.1:c.25387T>G	XP_011533943.1:p.Leu8463Val
XM_011535642.1:c.25375T>G	XP_011533944.1:p.Leu8459Val
XM_011535643.1:c.25225T>G	XP_011533945.1:p.Leu8409Val
XM_011535644.1:c.23665T>G	XP_011533946.1:p.Leu7889Val
XM_011535645.1:c.23158T>G	XP_011533947.1:p.Leu7720Val
XM_011535647.1:c.18625T>G	XP_011533949.1:p.Leu6209Val
NM_001347701.1:c.1891T>G	NP_001334630.1:p.Leu631Val
NM_001347702.1:c.1819T>G	NP_001334631.1:p.Leu607Val
XM_006715408.2:c.25378T>G	XP_006715471.1:p.Leu8460Val
XM_006715410.2:c.25390T>G	XP_006715473.1:p.Leu8464Val
XM_006715412.2:c.25375T>G	XP_006715475.1:p.Leu8459Val
XM_006715413.2:c.25321T>G	XP_006715476.1:p.Leu8441Val
XM_006715415.2:c.25321T>G	XP_006715478.1:p.Leu8441Val
XM_006715416.2:c.25306T>G	XP_006715479.1:p.Leu8436Val
XM_006715417.2:c.25249T>G	XP_006715480.1:p.Leu8417Val
XM_006715420.2:c.25237T>G	XP_006715483.1:p.Leu8413Val
XM_006715421.2:c.25234T>G	XP_006715484.1:p.Leu8412Val
XM_006715423.2:c.25390T>G	XP_006715486.1:p.Leu8464Val
XM_006715424.2:c.25390T>G	XP_006715487.1:p.Leu8464Val
XM_006715425.2:c.25321T>G	XP_006715488.1:p.Leu8441Val
XM_011535641.2:c.25387T>G	XP_011533943.1:p.Leu8463Val
XM_011535642.2:c.25375T>G	XP_011533944.1:p.Leu8459Val
XM_011535645.2:c.23158T>G	XP_011533947.1:p.Leu7720Val
XM_017010608.1:c.25390T>G	XP_016866097.1:p.Leu8464Val
XM_017010609.1:c.25390T>G	XP_016866098.1:p.Leu8464Val
XM_017010610.1:c.25369T>G	XP_016866099.1:p.Leu8457Val
XM_017010611.2:c.25363T>G	XP_016866100.1:p.Leu8455Val
XM_017010612.1:c.25312T>G	XP_016866101.1:p.Leu8438Val
XM_017010613.1:c.25318T>G	XP_016866102.1:p.Leu8440Val
XM_017010614.1:c.25234T>G	XP_016866103.1:p.Leu8412Val
XM_017010615.1:c.25165T>G	XP_016866104.1:p.Leu8389Val
XM_017010616.1:c.25321T>G	XP_016866105.1:p.Leu8441Val
XM_017010617.1:c.25318T>G	XP_016866106.1:p.Leu8440Val
XM_017010618.1:c.25306T>G	XP_016866107.1:p.Leu8436Val
XM_017010619.1:c.23665T>G	XP_016866108.1:p.Leu7889Val
NM_182961.4:c.25285T>G MANE Select	NP_892006.3:p.Leu8429Val
NM_001347701.2:c.1891T>G	NP_001334630.1:p.Leu631Val
NM_001347702.2:c.1819T>G MANE Plus Clinical	NP_001334631.1:p.Leu607Val
NM_033071.5:c.25141T>G	NP_149062.2:p.Leu8381Val