Canonical Allele Identifier: CA366088555

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122479A>T , CM000668.2:g.152122479A>T GRCh38
NC_000006.11:g.152443614A>T , CM000668.1:g.152443614A>T GRCh37
NC_000006.10:g.152485307A>T NCBI36
NG_012855.1:g.519921T>A
NG_008493.2:g.470789A>T
NG_012855.2:g.519921T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2885T>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Phe962Tyr
ENST00000367255.10:c.26351T>A (SYNE1) MANE Select ENSP00000356224.5:p.Phe8784Tyr
ENST00000423061.6:c.26207T>A (SYNE1) ENSP00000396024.1:p.Phe8736Tyr
ENST00000672154.1:c.1694T>A (SYNE1)
ENST00000672169.1:c.2069T>A (SYNE1)
ENST00000673173.1:c.1936T>A (SYNE1)
ENST00000673451.1:c.2201T>A (SYNE1) ENSP00000500189.1:n.2201T>A
ENST00000341594.9:c.25136T>A (SYNE1) ENSP00000341887.6:p.Phe8379Tyr
ENST00000347037.9:n.3099T>A (SYNE1)
ENST00000354674.4:c.2885T>A (SYNE1) ENSP00000346701.4:p.Phe962Tyr
ENST00000367251.7:c.5127T>A (SYNE1) ENSP00000356220.3:n.5127T>A
ENST00000367255.9:c.26351T>A (SYNE1) ENSP00000356224.5:p.Phe8784Tyr
ENST00000367256.9:n.10043T>A (SYNE1)
ENST00000367257.8:c.4230T>A (SYNE1) ENSP00000356226.4:n.4230T>A
ENST00000409694.6:n.9935T>A (SYNE1)
ENST00000423061.5:c.26207T>A (SYNE1) ENSP00000396024.1:p.Phe8736Tyr
ENST00000427531.6:c.851-2787A>T (ESR1) ENSP00000394721.2:n.851-2787A>T
ENST00000460912.6:n.2965T>A (SYNE1)
ENST00000478916.5:n.6988T>A (SYNE1)
ENST00000539504.5:c.2816T>A (SYNE1) ENSP00000441052.1:p.Phe939Tyr
NM_033071.3:c.26207T>A (SYNE1) NP_149062.1:p.Phe8736Tyr
NM_182961.3:c.26351T>A (SYNE1) NP_892006.3:p.Phe8784Tyr
XM_006715407.1:c.26498T>A (SYNE1) XP_006715470.1:p.Phe8833Tyr
XM_006715408.1:c.26486T>A (SYNE1) XP_006715471.1:p.Phe8829Tyr
XM_006715409.1:c.26477T>A (SYNE1) XP_006715472.1:p.Phe8826Tyr
XM_006715410.1:c.26456T>A (SYNE1) XP_006715473.1:p.Phe8819Tyr
XM_006715411.1:c.26447T>A (SYNE1) XP_006715474.1:p.Phe8816Tyr
XM_006715412.1:c.26441T>A (SYNE1) XP_006715475.1:p.Phe8814Tyr
XM_006715413.1:c.26429T>A (SYNE1) XP_006715476.1:p.Phe8810Tyr
XM_006715414.1:c.26426T>A (SYNE1) XP_006715477.1:p.Phe8809Tyr
XM_006715415.1:c.26387T>A (SYNE1) XP_006715478.1:p.Phe8796Tyr
XM_006715416.1:c.26372T>A (SYNE1) XP_006715479.1:p.Phe8791Tyr
XM_006715417.1:c.26357T>A (SYNE1) XP_006715480.1:p.Phe8786Tyr
XM_006715420.1:c.26345T>A (SYNE1) XP_006715483.1:p.Phe8782Tyr
XM_006715421.1:c.26342T>A (SYNE1) XP_006715484.1:p.Phe8781Tyr
XM_006715422.1:c.26339T>A (SYNE1) XP_006715485.1:p.Phe8780Tyr
XM_006715423.1:c.*162T>A (SYNE1) XP_006715486.1:n.*162T>A
XM_006715424.1:c.*162T>A (SYNE1) XP_006715487.1:n.*162T>A
XM_006715425.1:c.*162T>A (SYNE1) XP_006715488.1:n.*162T>A
XM_011535641.1:c.26495T>A (SYNE1) XP_011533943.1:p.Phe8832Tyr
XM_011535642.1:c.26483T>A (SYNE1) XP_011533944.1:p.Phe8828Tyr
XM_011535643.1:c.26333T>A (SYNE1) XP_011533945.1:p.Phe8778Tyr
XM_011535644.1:c.24773T>A (SYNE1) XP_011533946.1:p.Phe8258Tyr
XM_011535645.1:c.24266T>A (SYNE1) XP_011533947.1:p.Phe8089Tyr
XM_011535647.1:c.19733T>A (SYNE1) XP_011533949.1:p.Phe6578Tyr
NM_001328100.1:c.851-2787A>T (ESR1) NP_001315029.1:n.851-2787A>T
NM_001347701.1:c.*162T>A (SYNE1) NP_001334630.1:n.*162T>A
NM_001347702.1:c.2885T>A (SYNE1) NP_001334631.1:p.Phe962Tyr
XM_006715408.2:c.26486T>A (SYNE1) XP_006715471.1:p.Phe8829Tyr
XM_006715410.2:c.26456T>A (SYNE1) XP_006715473.1:p.Phe8819Tyr
XM_006715412.2:c.26441T>A (SYNE1) XP_006715475.1:p.Phe8814Tyr
XM_006715413.2:c.26429T>A (SYNE1) XP_006715476.1:p.Phe8810Tyr
XM_006715415.2:c.26387T>A (SYNE1) XP_006715478.1:p.Phe8796Tyr
XM_006715416.2:c.26372T>A (SYNE1) XP_006715479.1:p.Phe8791Tyr
XM_006715417.2:c.26357T>A (SYNE1) XP_006715480.1:p.Phe8786Tyr
XM_006715420.2:c.26345T>A (SYNE1) XP_006715483.1:p.Phe8782Tyr
XM_006715421.2:c.26342T>A (SYNE1) XP_006715484.1:p.Phe8781Tyr
XM_006715423.2:c.*162T>A (SYNE1) XP_006715486.1:n.*162T>A
XM_006715424.2:c.*162T>A (SYNE1) XP_006715487.1:n.*162T>A
XM_006715425.2:c.*162T>A (SYNE1) XP_006715488.1:n.*162T>A
XM_011535641.2:c.26495T>A (SYNE1) XP_011533943.1:p.Phe8832Tyr
XM_011535642.2:c.26483T>A (SYNE1) XP_011533944.1:p.Phe8828Tyr
XM_011535645.2:c.24266T>A (SYNE1) XP_011533947.1:p.Phe8089Tyr
XM_017010608.1:c.26498T>A (SYNE1) XP_016866097.1:p.Phe8833Tyr
XM_017010609.1:c.26498T>A (SYNE1) XP_016866098.1:p.Phe8833Tyr
XM_017010610.1:c.26477T>A (SYNE1) XP_016866099.1:p.Phe8826Tyr
XM_017010611.2:c.26471T>A (SYNE1) XP_016866100.1:p.Phe8824Tyr
XM_017010612.1:c.26420T>A (SYNE1) XP_016866101.1:p.Phe8807Tyr
XM_017010613.1:c.26384T>A (SYNE1) XP_016866102.1:p.Phe8795Tyr
XM_017010614.1:c.26342T>A (SYNE1) XP_016866103.1:p.Phe8781Tyr
XM_017010615.1:c.26231T>A (SYNE1) XP_016866104.1:p.Phe8744Tyr
XM_017010616.1:c.*162T>A (SYNE1) XP_016866105.1:n.*162T>A
XM_017010617.1:c.*162T>A (SYNE1) XP_016866106.1:n.*162T>A
XM_017010618.1:c.*162T>A (SYNE1) XP_016866107.1:n.*162T>A
XM_017010619.1:c.24773T>A (SYNE1) XP_016866108.1:p.Phe8258Tyr
NM_182961.4:c.26351T>A (SYNE1) MANE Select NP_892006.3:p.Phe8784Tyr
NM_001328100.2:c.851-2787A>T (ESR1) NP_001315029.1:n.851-2787A>T
NM_001347701.2:c.*162T>A (SYNE1) NP_001334630.1:n.*162T>A
NM_001347702.2:c.2885T>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Phe962Tyr
NM_033071.5:c.26207T>A (SYNE1) NP_149062.2:p.Phe8736Tyr