Canonical Allele Identifier: CA366088643

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122500G>T , CM000668.2:g.152122500G>T GRCh38
NC_000006.11:g.152443635G>T , CM000668.1:g.152443635G>T GRCh37
NC_000006.10:g.152485328G>T NCBI36
NG_012855.1:g.519900C>A
NG_008493.2:g.470810G>T
NG_012855.2:g.519900C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2864C>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Ser955Tyr
ENST00000367255.10:c.26330C>A (SYNE1) MANE Select ENSP00000356224.5:p.Ser8777Tyr
ENST00000423061.6:c.26186C>A (SYNE1) ENSP00000396024.1:p.Ser8729Tyr
ENST00000672154.1:c.1673C>A (SYNE1)
ENST00000672169.1:c.2048C>A (SYNE1)
ENST00000673173.1:c.1915C>A (SYNE1)
ENST00000673451.1:c.2180C>A (SYNE1) ENSP00000500189.1:n.2180C>A
ENST00000341594.9:c.25115C>A (SYNE1) ENSP00000341887.6:p.Ser8372Tyr
ENST00000347037.9:n.3078C>A (SYNE1)
ENST00000354674.4:c.2864C>A (SYNE1) ENSP00000346701.4:p.Ser955Tyr
ENST00000367251.7:c.5106C>A (SYNE1) ENSP00000356220.3:n.5106C>A
ENST00000367255.9:c.26330C>A (SYNE1) ENSP00000356224.5:p.Ser8777Tyr
ENST00000367256.9:n.10022C>A (SYNE1)
ENST00000367257.8:c.4209C>A (SYNE1) ENSP00000356226.4:n.4209C>A
ENST00000409694.6:n.9914C>A (SYNE1)
ENST00000423061.5:c.26186C>A (SYNE1) ENSP00000396024.1:p.Ser8729Tyr
ENST00000427531.6:c.851-2766G>T (ESR1) ENSP00000394721.2:n.851-2766G>T
ENST00000460912.6:n.2944C>A (SYNE1)
ENST00000478916.5:n.6967C>A (SYNE1)
ENST00000539504.5:c.2795C>A (SYNE1) ENSP00000441052.1:p.Ser932Tyr
NM_033071.3:c.26186C>A (SYNE1) NP_149062.1:p.Ser8729Tyr
NM_182961.3:c.26330C>A (SYNE1) NP_892006.3:p.Ser8777Tyr
XM_006715407.1:c.26477C>A (SYNE1) XP_006715470.1:p.Ser8826Tyr
XM_006715408.1:c.26465C>A (SYNE1) XP_006715471.1:p.Ser8822Tyr
XM_006715409.1:c.26456C>A (SYNE1) XP_006715472.1:p.Ser8819Tyr
XM_006715410.1:c.26435C>A (SYNE1) XP_006715473.1:p.Ser8812Tyr
XM_006715411.1:c.26426C>A (SYNE1) XP_006715474.1:p.Ser8809Tyr
XM_006715412.1:c.26420C>A (SYNE1) XP_006715475.1:p.Ser8807Tyr
XM_006715413.1:c.26408C>A (SYNE1) XP_006715476.1:p.Ser8803Tyr
XM_006715414.1:c.26405C>A (SYNE1) XP_006715477.1:p.Ser8802Tyr
XM_006715415.1:c.26366C>A (SYNE1) XP_006715478.1:p.Ser8789Tyr
XM_006715416.1:c.26351C>A (SYNE1) XP_006715479.1:p.Ser8784Tyr
XM_006715417.1:c.26336C>A (SYNE1) XP_006715480.1:p.Ser8779Tyr
XM_006715420.1:c.26324C>A (SYNE1) XP_006715483.1:p.Ser8775Tyr
XM_006715421.1:c.26321C>A (SYNE1) XP_006715484.1:p.Ser8774Tyr
XM_006715422.1:c.26318C>A (SYNE1) XP_006715485.1:p.Ser8773Tyr
XM_006715423.1:c.*141C>A (SYNE1) XP_006715486.1:n.*141C>A
XM_006715424.1:c.*141C>A (SYNE1) XP_006715487.1:n.*141C>A
XM_006715425.1:c.*141C>A (SYNE1) XP_006715488.1:n.*141C>A
XM_011535641.1:c.26474C>A (SYNE1) XP_011533943.1:p.Ser8825Tyr
XM_011535642.1:c.26462C>A (SYNE1) XP_011533944.1:p.Ser8821Tyr
XM_011535643.1:c.26312C>A (SYNE1) XP_011533945.1:p.Ser8771Tyr
XM_011535644.1:c.24752C>A (SYNE1) XP_011533946.1:p.Ser8251Tyr
XM_011535645.1:c.24245C>A (SYNE1) XP_011533947.1:p.Ser8082Tyr
XM_011535647.1:c.19712C>A (SYNE1) XP_011533949.1:p.Ser6571Tyr
NM_001328100.1:c.851-2766G>T (ESR1) NP_001315029.1:n.851-2766G>T
NM_001347701.1:c.*141C>A (SYNE1) NP_001334630.1:n.*141C>A
NM_001347702.1:c.2864C>A (SYNE1) NP_001334631.1:p.Ser955Tyr
XM_006715408.2:c.26465C>A (SYNE1) XP_006715471.1:p.Ser8822Tyr
XM_006715410.2:c.26435C>A (SYNE1) XP_006715473.1:p.Ser8812Tyr
XM_006715412.2:c.26420C>A (SYNE1) XP_006715475.1:p.Ser8807Tyr
XM_006715413.2:c.26408C>A (SYNE1) XP_006715476.1:p.Ser8803Tyr
XM_006715415.2:c.26366C>A (SYNE1) XP_006715478.1:p.Ser8789Tyr
XM_006715416.2:c.26351C>A (SYNE1) XP_006715479.1:p.Ser8784Tyr
XM_006715417.2:c.26336C>A (SYNE1) XP_006715480.1:p.Ser8779Tyr
XM_006715420.2:c.26324C>A (SYNE1) XP_006715483.1:p.Ser8775Tyr
XM_006715421.2:c.26321C>A (SYNE1) XP_006715484.1:p.Ser8774Tyr
XM_006715423.2:c.*141C>A (SYNE1) XP_006715486.1:n.*141C>A
XM_006715424.2:c.*141C>A (SYNE1) XP_006715487.1:n.*141C>A
XM_006715425.2:c.*141C>A (SYNE1) XP_006715488.1:n.*141C>A
XM_011535641.2:c.26474C>A (SYNE1) XP_011533943.1:p.Ser8825Tyr
XM_011535642.2:c.26462C>A (SYNE1) XP_011533944.1:p.Ser8821Tyr
XM_011535645.2:c.24245C>A (SYNE1) XP_011533947.1:p.Ser8082Tyr
XM_017010608.1:c.26477C>A (SYNE1) XP_016866097.1:p.Ser8826Tyr
XM_017010609.1:c.26477C>A (SYNE1) XP_016866098.1:p.Ser8826Tyr
XM_017010610.1:c.26456C>A (SYNE1) XP_016866099.1:p.Ser8819Tyr
XM_017010611.2:c.26450C>A (SYNE1) XP_016866100.1:p.Ser8817Tyr
XM_017010612.1:c.26399C>A (SYNE1) XP_016866101.1:p.Ser8800Tyr
XM_017010613.1:c.26363C>A (SYNE1) XP_016866102.1:p.Ser8788Tyr
XM_017010614.1:c.26321C>A (SYNE1) XP_016866103.1:p.Ser8774Tyr
XM_017010615.1:c.26210C>A (SYNE1) XP_016866104.1:p.Ser8737Tyr
XM_017010616.1:c.*141C>A (SYNE1) XP_016866105.1:n.*141C>A
XM_017010617.1:c.*141C>A (SYNE1) XP_016866106.1:n.*141C>A
XM_017010618.1:c.*141C>A (SYNE1) XP_016866107.1:n.*141C>A
XM_017010619.1:c.24752C>A (SYNE1) XP_016866108.1:p.Ser8251Tyr
NM_182961.4:c.26330C>A (SYNE1) MANE Select NP_892006.3:p.Ser8777Tyr
NM_001328100.2:c.851-2766G>T (ESR1) NP_001315029.1:n.851-2766G>T
NM_001347701.2:c.*141C>A (SYNE1) NP_001334630.1:n.*141C>A
NM_001347702.2:c.2864C>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Ser955Tyr
NM_033071.5:c.26186C>A (SYNE1) NP_149062.2:p.Ser8729Tyr