Canonical Allele Identifier: CA366088615

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122494T>A , CM000668.2:g.152122494T>A GRCh38
NC_000006.11:g.152443629T>A , CM000668.1:g.152443629T>A GRCh37
NC_000006.10:g.152485322T>A NCBI36
NG_012855.1:g.519906A>T
NG_008493.2:g.470804T>A
NG_012855.2:g.519906A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2870A>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Asn957Ile
ENST00000367255.10:c.26336A>T (SYNE1) MANE Select ENSP00000356224.5:p.Asn8779Ile
ENST00000423061.6:c.26192A>T (SYNE1) ENSP00000396024.1:p.Asn8731Ile
ENST00000672154.1:c.1679A>T (SYNE1)
ENST00000672169.1:c.2054A>T (SYNE1)
ENST00000673173.1:c.1921A>T (SYNE1)
ENST00000673451.1:c.2186A>T (SYNE1) ENSP00000500189.1:n.2186A>T
ENST00000341594.9:c.25121A>T (SYNE1) ENSP00000341887.6:p.Asn8374Ile
ENST00000347037.9:n.3084A>T (SYNE1)
ENST00000354674.4:c.2870A>T (SYNE1) ENSP00000346701.4:p.Asn957Ile
ENST00000367251.7:c.5112A>T (SYNE1) ENSP00000356220.3:n.5112A>T
ENST00000367255.9:c.26336A>T (SYNE1) ENSP00000356224.5:p.Asn8779Ile
ENST00000367256.9:n.10028A>T (SYNE1)
ENST00000367257.8:c.4215A>T (SYNE1) ENSP00000356226.4:n.4215A>T
ENST00000409694.6:n.9920A>T (SYNE1)
ENST00000423061.5:c.26192A>T (SYNE1) ENSP00000396024.1:p.Asn8731Ile
ENST00000427531.6:c.851-2772T>A (ESR1) ENSP00000394721.2:n.851-2772T>A
ENST00000460912.6:n.2950A>T (SYNE1)
ENST00000478916.5:n.6973A>T (SYNE1)
ENST00000539504.5:c.2801A>T (SYNE1) ENSP00000441052.1:p.Asn934Ile
NM_033071.3:c.26192A>T (SYNE1) NP_149062.1:p.Asn8731Ile
NM_182961.3:c.26336A>T (SYNE1) NP_892006.3:p.Asn8779Ile
XM_006715407.1:c.26483A>T (SYNE1) XP_006715470.1:p.Asn8828Ile
XM_006715408.1:c.26471A>T (SYNE1) XP_006715471.1:p.Asn8824Ile
XM_006715409.1:c.26462A>T (SYNE1) XP_006715472.1:p.Asn8821Ile
XM_006715410.1:c.26441A>T (SYNE1) XP_006715473.1:p.Asn8814Ile
XM_006715411.1:c.26432A>T (SYNE1) XP_006715474.1:p.Asn8811Ile
XM_006715412.1:c.26426A>T (SYNE1) XP_006715475.1:p.Asn8809Ile
XM_006715413.1:c.26414A>T (SYNE1) XP_006715476.1:p.Asn8805Ile
XM_006715414.1:c.26411A>T (SYNE1) XP_006715477.1:p.Asn8804Ile
XM_006715415.1:c.26372A>T (SYNE1) XP_006715478.1:p.Asn8791Ile
XM_006715416.1:c.26357A>T (SYNE1) XP_006715479.1:p.Asn8786Ile
XM_006715417.1:c.26342A>T (SYNE1) XP_006715480.1:p.Asn8781Ile
XM_006715420.1:c.26330A>T (SYNE1) XP_006715483.1:p.Asn8777Ile
XM_006715421.1:c.26327A>T (SYNE1) XP_006715484.1:p.Asn8776Ile
XM_006715422.1:c.26324A>T (SYNE1) XP_006715485.1:p.Asn8775Ile
XM_006715423.1:c.*147A>T (SYNE1) XP_006715486.1:n.*147A>T
XM_006715424.1:c.*147A>T (SYNE1) XP_006715487.1:n.*147A>T
XM_006715425.1:c.*147A>T (SYNE1) XP_006715488.1:n.*147A>T
XM_011535641.1:c.26480A>T (SYNE1) XP_011533943.1:p.Asn8827Ile
XM_011535642.1:c.26468A>T (SYNE1) XP_011533944.1:p.Asn8823Ile
XM_011535643.1:c.26318A>T (SYNE1) XP_011533945.1:p.Asn8773Ile
XM_011535644.1:c.24758A>T (SYNE1) XP_011533946.1:p.Asn8253Ile
XM_011535645.1:c.24251A>T (SYNE1) XP_011533947.1:p.Asn8084Ile
XM_011535647.1:c.19718A>T (SYNE1) XP_011533949.1:p.Asn6573Ile
NM_001328100.1:c.851-2772T>A (ESR1) NP_001315029.1:n.851-2772T>A
NM_001347701.1:c.*147A>T (SYNE1) NP_001334630.1:n.*147A>T
NM_001347702.1:c.2870A>T (SYNE1) NP_001334631.1:p.Asn957Ile
XM_006715408.2:c.26471A>T (SYNE1) XP_006715471.1:p.Asn8824Ile
XM_006715410.2:c.26441A>T (SYNE1) XP_006715473.1:p.Asn8814Ile
XM_006715412.2:c.26426A>T (SYNE1) XP_006715475.1:p.Asn8809Ile
XM_006715413.2:c.26414A>T (SYNE1) XP_006715476.1:p.Asn8805Ile
XM_006715415.2:c.26372A>T (SYNE1) XP_006715478.1:p.Asn8791Ile
XM_006715416.2:c.26357A>T (SYNE1) XP_006715479.1:p.Asn8786Ile
XM_006715417.2:c.26342A>T (SYNE1) XP_006715480.1:p.Asn8781Ile
XM_006715420.2:c.26330A>T (SYNE1) XP_006715483.1:p.Asn8777Ile
XM_006715421.2:c.26327A>T (SYNE1) XP_006715484.1:p.Asn8776Ile
XM_006715423.2:c.*147A>T (SYNE1) XP_006715486.1:n.*147A>T
XM_006715424.2:c.*147A>T (SYNE1) XP_006715487.1:n.*147A>T
XM_006715425.2:c.*147A>T (SYNE1) XP_006715488.1:n.*147A>T
XM_011535641.2:c.26480A>T (SYNE1) XP_011533943.1:p.Asn8827Ile
XM_011535642.2:c.26468A>T (SYNE1) XP_011533944.1:p.Asn8823Ile
XM_011535645.2:c.24251A>T (SYNE1) XP_011533947.1:p.Asn8084Ile
XM_017010608.1:c.26483A>T (SYNE1) XP_016866097.1:p.Asn8828Ile
XM_017010609.1:c.26483A>T (SYNE1) XP_016866098.1:p.Asn8828Ile
XM_017010610.1:c.26462A>T (SYNE1) XP_016866099.1:p.Asn8821Ile
XM_017010611.2:c.26456A>T (SYNE1) XP_016866100.1:p.Asn8819Ile
XM_017010612.1:c.26405A>T (SYNE1) XP_016866101.1:p.Asn8802Ile
XM_017010613.1:c.26369A>T (SYNE1) XP_016866102.1:p.Asn8790Ile
XM_017010614.1:c.26327A>T (SYNE1) XP_016866103.1:p.Asn8776Ile
XM_017010615.1:c.26216A>T (SYNE1) XP_016866104.1:p.Asn8739Ile
XM_017010616.1:c.*147A>T (SYNE1) XP_016866105.1:n.*147A>T
XM_017010617.1:c.*147A>T (SYNE1) XP_016866106.1:n.*147A>T
XM_017010618.1:c.*147A>T (SYNE1) XP_016866107.1:n.*147A>T
XM_017010619.1:c.24758A>T (SYNE1) XP_016866108.1:p.Asn8253Ile
NM_182961.4:c.26336A>T (SYNE1) MANE Select NP_892006.3:p.Asn8779Ile
NM_001328100.2:c.851-2772T>A (ESR1) NP_001315029.1:n.851-2772T>A
NM_001347701.2:c.*147A>T (SYNE1) NP_001334630.1:n.*147A>T
NM_001347702.2:c.2870A>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Asn957Ile
NM_033071.5:c.26192A>T (SYNE1) NP_149062.2:p.Asn8731Ile