Canonical Allele Identifier: CA366089099

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122612A>T , CM000668.2:g.152122612A>T GRCh38
NC_000006.11:g.152443747A>T , CM000668.1:g.152443747A>T GRCh37
NC_000006.10:g.152485440A>T NCBI36
NG_012855.1:g.519788T>A
NG_008493.2:g.470922A>T
NG_012855.2:g.519788T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000354674.5:c.2752T>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Phe918Ile
ENST00000367255.10:c.26218T>A (SYNE1) MANE Select ENSP00000356224.5:p.Phe8740Ile
ENST00000423061.6:c.26074T>A (SYNE1) ENSP00000396024.1:p.Phe8692Ile
ENST00000672154.1:c.1561T>A (SYNE1)
ENST00000672169.1:c.1936T>A (SYNE1)
ENST00000673173.1:c.1803T>A (SYNE1)
ENST00000673451.1:c.2068T>A (SYNE1) ENSP00000500189.1:n.2068T>A
ENST00000341594.9:c.25003T>A (SYNE1) ENSP00000341887.6:p.Phe8335Ile
ENST00000347037.9:n.2966T>A (SYNE1)
ENST00000354674.4:c.2752T>A (SYNE1) ENSP00000346701.4:p.Phe918Ile
ENST00000367251.7:c.4994T>A (SYNE1) ENSP00000356220.3:n.4994T>A
ENST00000367255.9:c.26218T>A (SYNE1) ENSP00000356224.5:p.Phe8740Ile
ENST00000367256.9:n.9910T>A (SYNE1)
ENST00000367257.8:c.4097T>A (SYNE1) ENSP00000356226.4:n.4097T>A
ENST00000409694.6:n.9802T>A (SYNE1)
ENST00000423061.5:c.26074T>A (SYNE1) ENSP00000396024.1:p.Phe8692Ile
ENST00000427531.6:c.851-2654A>T (ESR1) ENSP00000394721.2:n.851-2654A>T
ENST00000460912.6:n.2832T>A (SYNE1)
ENST00000478916.5:n.6855T>A (SYNE1)
ENST00000536990.5:n.2996T>A (SYNE1)
ENST00000539504.5:c.2683T>A (SYNE1) ENSP00000441052.1:p.Phe895Ile
NM_033071.3:c.26074T>A (SYNE1) NP_149062.1:p.Phe8692Ile
NM_182961.3:c.26218T>A (SYNE1) NP_892006.3:p.Phe8740Ile
XM_006715407.1:c.26365T>A (SYNE1) XP_006715470.1:p.Phe8789Ile
XM_006715408.1:c.26353T>A (SYNE1) XP_006715471.1:p.Phe8785Ile
XM_006715409.1:c.26344T>A (SYNE1) XP_006715472.1:p.Phe8782Ile
XM_006715410.1:c.26323T>A (SYNE1) XP_006715473.1:p.Phe8775Ile
XM_006715411.1:c.26314T>A (SYNE1) XP_006715474.1:p.Phe8772Ile
XM_006715412.1:c.26308T>A (SYNE1) XP_006715475.1:p.Phe8770Ile
XM_006715413.1:c.26296T>A (SYNE1) XP_006715476.1:p.Phe8766Ile
XM_006715414.1:c.26293T>A (SYNE1) XP_006715477.1:p.Phe8765Ile
XM_006715415.1:c.26254T>A (SYNE1) XP_006715478.1:p.Phe8752Ile
XM_006715416.1:c.26239T>A (SYNE1) XP_006715479.1:p.Phe8747Ile
XM_006715417.1:c.26224T>A (SYNE1) XP_006715480.1:p.Phe8742Ile
XM_006715420.1:c.26212T>A (SYNE1) XP_006715483.1:p.Phe8738Ile
XM_006715421.1:c.26209T>A (SYNE1) XP_006715484.1:p.Phe8737Ile
XM_006715422.1:c.26206T>A (SYNE1) XP_006715485.1:p.Phe8736Ile
XM_006715423.1:c.*29T>A (SYNE1) XP_006715486.1:n.*29T>A
XM_006715424.1:c.*29T>A (SYNE1) XP_006715487.1:n.*29T>A
XM_006715425.1:c.*29T>A (SYNE1) XP_006715488.1:n.*29T>A
XM_011535641.1:c.26362T>A (SYNE1) XP_011533943.1:p.Phe8788Ile
XM_011535642.1:c.26350T>A (SYNE1) XP_011533944.1:p.Phe8784Ile
XM_011535643.1:c.26200T>A (SYNE1) XP_011533945.1:p.Phe8734Ile
XM_011535644.1:c.24640T>A (SYNE1) XP_011533946.1:p.Phe8214Ile
XM_011535645.1:c.24133T>A (SYNE1) XP_011533947.1:p.Phe8045Ile
XM_011535647.1:c.19600T>A (SYNE1) XP_011533949.1:p.Phe6534Ile
NM_001328100.1:c.851-2654A>T (ESR1) NP_001315029.1:n.851-2654A>T
NM_001347701.1:c.*29T>A (SYNE1) NP_001334630.1:n.*29T>A
NM_001347702.1:c.2752T>A (SYNE1) NP_001334631.1:p.Phe918Ile
XM_006715408.2:c.26353T>A (SYNE1) XP_006715471.1:p.Phe8785Ile
XM_006715410.2:c.26323T>A (SYNE1) XP_006715473.1:p.Phe8775Ile
XM_006715412.2:c.26308T>A (SYNE1) XP_006715475.1:p.Phe8770Ile
XM_006715413.2:c.26296T>A (SYNE1) XP_006715476.1:p.Phe8766Ile
XM_006715415.2:c.26254T>A (SYNE1) XP_006715478.1:p.Phe8752Ile
XM_006715416.2:c.26239T>A (SYNE1) XP_006715479.1:p.Phe8747Ile
XM_006715417.2:c.26224T>A (SYNE1) XP_006715480.1:p.Phe8742Ile
XM_006715420.2:c.26212T>A (SYNE1) XP_006715483.1:p.Phe8738Ile
XM_006715421.2:c.26209T>A (SYNE1) XP_006715484.1:p.Phe8737Ile
XM_006715423.2:c.*29T>A (SYNE1) XP_006715486.1:n.*29T>A
XM_006715424.2:c.*29T>A (SYNE1) XP_006715487.1:n.*29T>A
XM_006715425.2:c.*29T>A (SYNE1) XP_006715488.1:n.*29T>A
XM_011535641.2:c.26362T>A (SYNE1) XP_011533943.1:p.Phe8788Ile
XM_011535642.2:c.26350T>A (SYNE1) XP_011533944.1:p.Phe8784Ile
XM_011535645.2:c.24133T>A (SYNE1) XP_011533947.1:p.Phe8045Ile
XM_017010608.1:c.26365T>A (SYNE1) XP_016866097.1:p.Phe8789Ile
XM_017010609.1:c.26365T>A (SYNE1) XP_016866098.1:p.Phe8789Ile
XM_017010610.1:c.26344T>A (SYNE1) XP_016866099.1:p.Phe8782Ile
XM_017010611.2:c.26338T>A (SYNE1) XP_016866100.1:p.Phe8780Ile
XM_017010612.1:c.26287T>A (SYNE1) XP_016866101.1:p.Phe8763Ile
XM_017010613.1:c.26251T>A (SYNE1) XP_016866102.1:p.Phe8751Ile
XM_017010614.1:c.26209T>A (SYNE1) XP_016866103.1:p.Phe8737Ile
XM_017010615.1:c.26098T>A (SYNE1) XP_016866104.1:p.Phe8700Ile
XM_017010616.1:c.*29T>A (SYNE1) XP_016866105.1:n.*29T>A
XM_017010617.1:c.*29T>A (SYNE1) XP_016866106.1:n.*29T>A
XM_017010618.1:c.*29T>A (SYNE1) XP_016866107.1:n.*29T>A
XM_017010619.1:c.24640T>A (SYNE1) XP_016866108.1:p.Phe8214Ile
NM_182961.4:c.26218T>A (SYNE1) MANE Select NP_892006.3:p.Phe8740Ile
NM_001328100.2:c.851-2654A>T (ESR1) NP_001315029.1:n.851-2654A>T
NM_001347701.2:c.*29T>A (SYNE1) NP_001334630.1:n.*29T>A
NM_001347702.2:c.2752T>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Phe918Ile
NM_033071.5:c.26074T>A (SYNE1) NP_149062.2:p.Phe8692Ile