Canonical Allele Identifier: CA366089091

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122611A>T , CM000668.2:g.152122611A>T GRCh38
NC_000006.11:g.152443746A>T , CM000668.1:g.152443746A>T GRCh37
NC_000006.10:g.152485439A>T NCBI36
NG_012855.1:g.519789T>A
NG_008493.2:g.470921A>T
NG_012855.2:g.519789T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000354674.5:c.2753T>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Phe918Tyr
ENST00000367255.10:c.26219T>A (SYNE1) MANE Select ENSP00000356224.5:p.Phe8740Tyr
ENST00000423061.6:c.26075T>A (SYNE1) ENSP00000396024.1:p.Phe8692Tyr
ENST00000672154.1:c.1562T>A (SYNE1)
ENST00000672169.1:c.1937T>A (SYNE1)
ENST00000673173.1:c.1804T>A (SYNE1)
ENST00000673451.1:c.2069T>A (SYNE1) ENSP00000500189.1:n.2069T>A
ENST00000341594.9:c.25004T>A (SYNE1) ENSP00000341887.6:p.Phe8335Tyr
ENST00000347037.9:n.2967T>A (SYNE1)
ENST00000354674.4:c.2753T>A (SYNE1) ENSP00000346701.4:p.Phe918Tyr
ENST00000367251.7:c.4995T>A (SYNE1) ENSP00000356220.3:n.4995T>A
ENST00000367255.9:c.26219T>A (SYNE1) ENSP00000356224.5:p.Phe8740Tyr
ENST00000367256.9:n.9911T>A (SYNE1)
ENST00000367257.8:c.4098T>A (SYNE1) ENSP00000356226.4:n.4098T>A
ENST00000409694.6:n.9803T>A (SYNE1)
ENST00000423061.5:c.26075T>A (SYNE1) ENSP00000396024.1:p.Phe8692Tyr
ENST00000427531.6:c.851-2655A>T (ESR1) ENSP00000394721.2:n.851-2655A>T
ENST00000460912.6:n.2833T>A (SYNE1)
ENST00000478916.5:n.6856T>A (SYNE1)
ENST00000536990.5:n.2997T>A (SYNE1)
ENST00000539504.5:c.2684T>A (SYNE1) ENSP00000441052.1:p.Phe895Tyr
NM_033071.3:c.26075T>A (SYNE1) NP_149062.1:p.Phe8692Tyr
NM_182961.3:c.26219T>A (SYNE1) NP_892006.3:p.Phe8740Tyr
XM_006715407.1:c.26366T>A (SYNE1) XP_006715470.1:p.Phe8789Tyr
XM_006715408.1:c.26354T>A (SYNE1) XP_006715471.1:p.Phe8785Tyr
XM_006715409.1:c.26345T>A (SYNE1) XP_006715472.1:p.Phe8782Tyr
XM_006715410.1:c.26324T>A (SYNE1) XP_006715473.1:p.Phe8775Tyr
XM_006715411.1:c.26315T>A (SYNE1) XP_006715474.1:p.Phe8772Tyr
XM_006715412.1:c.26309T>A (SYNE1) XP_006715475.1:p.Phe8770Tyr
XM_006715413.1:c.26297T>A (SYNE1) XP_006715476.1:p.Phe8766Tyr
XM_006715414.1:c.26294T>A (SYNE1) XP_006715477.1:p.Phe8765Tyr
XM_006715415.1:c.26255T>A (SYNE1) XP_006715478.1:p.Phe8752Tyr
XM_006715416.1:c.26240T>A (SYNE1) XP_006715479.1:p.Phe8747Tyr
XM_006715417.1:c.26225T>A (SYNE1) XP_006715480.1:p.Phe8742Tyr
XM_006715420.1:c.26213T>A (SYNE1) XP_006715483.1:p.Phe8738Tyr
XM_006715421.1:c.26210T>A (SYNE1) XP_006715484.1:p.Phe8737Tyr
XM_006715422.1:c.26207T>A (SYNE1) XP_006715485.1:p.Phe8736Tyr
XM_006715423.1:c.*30T>A (SYNE1) XP_006715486.1:n.*30T>A
XM_006715424.1:c.*30T>A (SYNE1) XP_006715487.1:n.*30T>A
XM_006715425.1:c.*30T>A (SYNE1) XP_006715488.1:n.*30T>A
XM_011535641.1:c.26363T>A (SYNE1) XP_011533943.1:p.Phe8788Tyr
XM_011535642.1:c.26351T>A (SYNE1) XP_011533944.1:p.Phe8784Tyr
XM_011535643.1:c.26201T>A (SYNE1) XP_011533945.1:p.Phe8734Tyr
XM_011535644.1:c.24641T>A (SYNE1) XP_011533946.1:p.Phe8214Tyr
XM_011535645.1:c.24134T>A (SYNE1) XP_011533947.1:p.Phe8045Tyr
XM_011535647.1:c.19601T>A (SYNE1) XP_011533949.1:p.Phe6534Tyr
NM_001328100.1:c.851-2655A>T (ESR1) NP_001315029.1:n.851-2655A>T
NM_001347701.1:c.*30T>A (SYNE1) NP_001334630.1:n.*30T>A
NM_001347702.1:c.2753T>A (SYNE1) NP_001334631.1:p.Phe918Tyr
XM_006715408.2:c.26354T>A (SYNE1) XP_006715471.1:p.Phe8785Tyr
XM_006715410.2:c.26324T>A (SYNE1) XP_006715473.1:p.Phe8775Tyr
XM_006715412.2:c.26309T>A (SYNE1) XP_006715475.1:p.Phe8770Tyr
XM_006715413.2:c.26297T>A (SYNE1) XP_006715476.1:p.Phe8766Tyr
XM_006715415.2:c.26255T>A (SYNE1) XP_006715478.1:p.Phe8752Tyr
XM_006715416.2:c.26240T>A (SYNE1) XP_006715479.1:p.Phe8747Tyr
XM_006715417.2:c.26225T>A (SYNE1) XP_006715480.1:p.Phe8742Tyr
XM_006715420.2:c.26213T>A (SYNE1) XP_006715483.1:p.Phe8738Tyr
XM_006715421.2:c.26210T>A (SYNE1) XP_006715484.1:p.Phe8737Tyr
XM_006715423.2:c.*30T>A (SYNE1) XP_006715486.1:n.*30T>A
XM_006715424.2:c.*30T>A (SYNE1) XP_006715487.1:n.*30T>A
XM_006715425.2:c.*30T>A (SYNE1) XP_006715488.1:n.*30T>A
XM_011535641.2:c.26363T>A (SYNE1) XP_011533943.1:p.Phe8788Tyr
XM_011535642.2:c.26351T>A (SYNE1) XP_011533944.1:p.Phe8784Tyr
XM_011535645.2:c.24134T>A (SYNE1) XP_011533947.1:p.Phe8045Tyr
XM_017010608.1:c.26366T>A (SYNE1) XP_016866097.1:p.Phe8789Tyr
XM_017010609.1:c.26366T>A (SYNE1) XP_016866098.1:p.Phe8789Tyr
XM_017010610.1:c.26345T>A (SYNE1) XP_016866099.1:p.Phe8782Tyr
XM_017010611.2:c.26339T>A (SYNE1) XP_016866100.1:p.Phe8780Tyr
XM_017010612.1:c.26288T>A (SYNE1) XP_016866101.1:p.Phe8763Tyr
XM_017010613.1:c.26252T>A (SYNE1) XP_016866102.1:p.Phe8751Tyr
XM_017010614.1:c.26210T>A (SYNE1) XP_016866103.1:p.Phe8737Tyr
XM_017010615.1:c.26099T>A (SYNE1) XP_016866104.1:p.Phe8700Tyr
XM_017010616.1:c.*30T>A (SYNE1) XP_016866105.1:n.*30T>A
XM_017010617.1:c.*30T>A (SYNE1) XP_016866106.1:n.*30T>A
XM_017010618.1:c.*30T>A (SYNE1) XP_016866107.1:n.*30T>A
XM_017010619.1:c.24641T>A (SYNE1) XP_016866108.1:p.Phe8214Tyr
NM_182961.4:c.26219T>A (SYNE1) MANE Select NP_892006.3:p.Phe8740Tyr
NM_001328100.2:c.851-2655A>T (ESR1) NP_001315029.1:n.851-2655A>T
NM_001347701.2:c.*30T>A (SYNE1) NP_001334630.1:n.*30T>A
NM_001347702.2:c.2753T>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Phe918Tyr
NM_033071.5:c.26075T>A (SYNE1) NP_149062.2:p.Phe8692Tyr