Canonical Allele Identifier: CA155446

Linked Data

ClinVar Variation Id: 130434
dbSNP Id: rs2295192

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122626C>T , CM000668.2:g.152122626C>T GRCh38
NC_000006.11:g.152443761C>T , CM000668.1:g.152443761C>T GRCh37
NC_000006.10:g.152485454C>T NCBI36
NG_012855.1:g.519774G>A
NG_008493.2:g.470936C>T
NG_012855.2:g.519774G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2738G>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Arg913Gln
ENST00000367255.10:c.26204G>A (SYNE1) MANE Select ENSP00000356224.5:p.Arg8735Gln
ENST00000423061.6:c.26060G>A (SYNE1) ENSP00000396024.1:p.Arg8687Gln
ENST00000672154.1:c.1547G>A (SYNE1)
ENST00000672169.1:c.1922G>A (SYNE1)
ENST00000673173.1:c.1789G>A (SYNE1)
ENST00000673451.1:c.2054G>A (SYNE1) ENSP00000500189.1:n.2054G>A
ENST00000341594.9:c.24989G>A (SYNE1) ENSP00000341887.6:p.Arg8330Gln
ENST00000347037.9:n.2952G>A (SYNE1)
ENST00000354674.4:c.2738G>A (SYNE1) ENSP00000346701.4:p.Arg913Gln
ENST00000367251.7:c.4980G>A (SYNE1) ENSP00000356220.3:n.4980G>A
ENST00000367255.9:c.26204G>A (SYNE1) ENSP00000356224.5:p.Arg8735Gln
ENST00000367256.9:n.9896G>A (SYNE1)
ENST00000367257.8:c.4083G>A (SYNE1) ENSP00000356226.4:n.4083G>A
ENST00000409694.6:n.9788G>A (SYNE1)
ENST00000423061.5:c.26060G>A (SYNE1) ENSP00000396024.1:p.Arg8687Gln
ENST00000427531.6:c.851-2640C>T (ESR1) ENSP00000394721.2:n.851-2640C>T
ENST00000460912.6:n.2818G>A (SYNE1)
ENST00000478916.5:n.6841G>A (SYNE1)
ENST00000536990.5:n.2982G>A (SYNE1)
ENST00000539504.5:c.2669G>A (SYNE1) ENSP00000441052.1:p.Arg890Gln
NM_033071.3:c.26060G>A (SYNE1) NP_149062.1:p.Arg8687Gln
NM_182961.3:c.26204G>A (SYNE1) NP_892006.3:p.Arg8735Gln
XM_006715407.1:c.26351G>A (SYNE1) XP_006715470.1:p.Arg8784Gln
XM_006715408.1:c.26339G>A (SYNE1) XP_006715471.1:p.Arg8780Gln
XM_006715409.1:c.26330G>A (SYNE1) XP_006715472.1:p.Arg8777Gln
XM_006715410.1:c.26309G>A (SYNE1) XP_006715473.1:p.Arg8770Gln
XM_006715411.1:c.26300G>A (SYNE1) XP_006715474.1:p.Arg8767Gln
XM_006715412.1:c.26294G>A (SYNE1) XP_006715475.1:p.Arg8765Gln
XM_006715413.1:c.26282G>A (SYNE1) XP_006715476.1:p.Arg8761Gln
XM_006715414.1:c.26279G>A (SYNE1) XP_006715477.1:p.Arg8760Gln
XM_006715415.1:c.26240G>A (SYNE1) XP_006715478.1:p.Arg8747Gln
XM_006715416.1:c.26225G>A (SYNE1) XP_006715479.1:p.Arg8742Gln
XM_006715417.1:c.26210G>A (SYNE1) XP_006715480.1:p.Arg8737Gln
XM_006715420.1:c.26198G>A (SYNE1) XP_006715483.1:p.Arg8733Gln
XM_006715421.1:c.26195G>A (SYNE1) XP_006715484.1:p.Arg8732Gln
XM_006715422.1:c.26192G>A (SYNE1) XP_006715485.1:p.Arg8731Gln
XM_006715423.1:c.*15G>A (SYNE1) XP_006715486.1:n.*15G>A
XM_006715424.1:c.*15G>A (SYNE1) XP_006715487.1:n.*15G>A
XM_006715425.1:c.*15G>A (SYNE1) XP_006715488.1:n.*15G>A
XM_011535641.1:c.26348G>A (SYNE1) XP_011533943.1:p.Arg8783Gln
XM_011535642.1:c.26336G>A (SYNE1) XP_011533944.1:p.Arg8779Gln
XM_011535643.1:c.26186G>A (SYNE1) XP_011533945.1:p.Arg8729Gln
XM_011535644.1:c.24626G>A (SYNE1) XP_011533946.1:p.Arg8209Gln
XM_011535645.1:c.24119G>A (SYNE1) XP_011533947.1:p.Arg8040Gln
XM_011535647.1:c.19586G>A (SYNE1) XP_011533949.1:p.Arg6529Gln
NM_001328100.1:c.851-2640C>T (ESR1) NP_001315029.1:n.851-2640C>T
NM_001347701.1:c.*15G>A (SYNE1) NP_001334630.1:n.*15G>A
NM_001347702.1:c.2738G>A (SYNE1) NP_001334631.1:p.Arg913Gln
XM_006715408.2:c.26339G>A (SYNE1) XP_006715471.1:p.Arg8780Gln
XM_006715410.2:c.26309G>A (SYNE1) XP_006715473.1:p.Arg8770Gln
XM_006715412.2:c.26294G>A (SYNE1) XP_006715475.1:p.Arg8765Gln
XM_006715413.2:c.26282G>A (SYNE1) XP_006715476.1:p.Arg8761Gln
XM_006715415.2:c.26240G>A (SYNE1) XP_006715478.1:p.Arg8747Gln
XM_006715416.2:c.26225G>A (SYNE1) XP_006715479.1:p.Arg8742Gln
XM_006715417.2:c.26210G>A (SYNE1) XP_006715480.1:p.Arg8737Gln
XM_006715420.2:c.26198G>A (SYNE1) XP_006715483.1:p.Arg8733Gln
XM_006715421.2:c.26195G>A (SYNE1) XP_006715484.1:p.Arg8732Gln
XM_006715423.2:c.*15G>A (SYNE1) XP_006715486.1:n.*15G>A
XM_006715424.2:c.*15G>A (SYNE1) XP_006715487.1:n.*15G>A
XM_006715425.2:c.*15G>A (SYNE1) XP_006715488.1:n.*15G>A
XM_011535641.2:c.26348G>A (SYNE1) XP_011533943.1:p.Arg8783Gln
XM_011535642.2:c.26336G>A (SYNE1) XP_011533944.1:p.Arg8779Gln
XM_011535645.2:c.24119G>A (SYNE1) XP_011533947.1:p.Arg8040Gln
XM_017010608.1:c.26351G>A (SYNE1) XP_016866097.1:p.Arg8784Gln
XM_017010609.1:c.26351G>A (SYNE1) XP_016866098.1:p.Arg8784Gln
XM_017010610.1:c.26330G>A (SYNE1) XP_016866099.1:p.Arg8777Gln
XM_017010611.2:c.26324G>A (SYNE1) XP_016866100.1:p.Arg8775Gln
XM_017010612.1:c.26273G>A (SYNE1) XP_016866101.1:p.Arg8758Gln
XM_017010613.1:c.26237G>A (SYNE1) XP_016866102.1:p.Arg8746Gln
XM_017010614.1:c.26195G>A (SYNE1) XP_016866103.1:p.Arg8732Gln
XM_017010615.1:c.26084G>A (SYNE1) XP_016866104.1:p.Arg8695Gln
XM_017010616.1:c.*15G>A (SYNE1) XP_016866105.1:n.*15G>A
XM_017010617.1:c.*15G>A (SYNE1) XP_016866106.1:n.*15G>A
XM_017010618.1:c.*15G>A (SYNE1) XP_016866107.1:n.*15G>A
XM_017010619.1:c.24626G>A (SYNE1) XP_016866108.1:p.Arg8209Gln
NM_182961.4:c.26204G>A (SYNE1) MANE Select NP_892006.3:p.Arg8735Gln
NM_001328100.2:c.851-2640C>T (ESR1) NP_001315029.1:n.851-2640C>T
NM_001347701.2:c.*15G>A (SYNE1) NP_001334630.1:n.*15G>A
NM_001347702.2:c.2738G>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Arg913Gln
NM_033071.5:c.26060G>A (SYNE1) NP_149062.2:p.Arg8687Gln