Canonical Allele Identifier: CA366089268

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122669T>G , CM000668.2:g.152122669T>G GRCh38
NC_000006.11:g.152443804T>G , CM000668.1:g.152443804T>G GRCh37
NC_000006.10:g.152485497T>G NCBI36
NG_012855.1:g.519731A>C
NG_008493.2:g.470979T>G
NG_012855.2:g.519731A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2695A>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Lys899Gln
ENST00000367255.10:c.26161A>C (SYNE1) MANE Select ENSP00000356224.5:p.Lys8721Gln
ENST00000423061.6:c.26017A>C (SYNE1) ENSP00000396024.1:p.Lys8673Gln
ENST00000672154.1:c.1504A>C (SYNE1)
ENST00000672169.1:c.1879A>C (SYNE1)
ENST00000673173.1:c.1746A>C (SYNE1)
ENST00000673451.1:c.2011A>C (SYNE1) ENSP00000500189.1:n.2011A>C
ENST00000341594.9:c.24946A>C (SYNE1) ENSP00000341887.6:p.Lys8316Gln
ENST00000347037.9:n.2909A>C (SYNE1)
ENST00000354674.4:c.2695A>C (SYNE1) ENSP00000346701.4:p.Lys899Gln
ENST00000367251.7:c.4937A>C (SYNE1) ENSP00000356220.3:p.Lys1646Thr
ENST00000367255.9:c.26161A>C (SYNE1) ENSP00000356224.5:p.Lys8721Gln
ENST00000367256.9:n.9853A>C (SYNE1)
ENST00000367257.8:c.4040A>C (SYNE1) ENSP00000356226.4:p.Lys1347Thr
ENST00000409694.6:n.9745A>C (SYNE1)
ENST00000423061.5:c.26017A>C (SYNE1) ENSP00000396024.1:p.Lys8673Gln
ENST00000427531.6:c.851-2597T>G (ESR1) ENSP00000394721.2:n.851-2597T>G
ENST00000460912.6:n.2775A>C (SYNE1)
ENST00000478916.5:n.6798A>C (SYNE1)
ENST00000536990.5:n.2939A>C (SYNE1)
ENST00000539504.5:c.2626A>C (SYNE1) ENSP00000441052.1:p.Lys876Gln
NM_033071.3:c.26017A>C (SYNE1) NP_149062.1:p.Lys8673Gln
NM_182961.3:c.26161A>C (SYNE1) NP_892006.3:p.Lys8721Gln
XM_006715407.1:c.26308A>C (SYNE1) XP_006715470.1:p.Lys8770Gln
XM_006715408.1:c.26296A>C (SYNE1) XP_006715471.1:p.Lys8766Gln
XM_006715409.1:c.26287A>C (SYNE1) XP_006715472.1:p.Lys8763Gln
XM_006715410.1:c.26266A>C (SYNE1) XP_006715473.1:p.Lys8756Gln
XM_006715411.1:c.26257A>C (SYNE1) XP_006715474.1:p.Lys8753Gln
XM_006715412.1:c.26251A>C (SYNE1) XP_006715475.1:p.Lys8751Gln
XM_006715413.1:c.26239A>C (SYNE1) XP_006715476.1:p.Lys8747Gln
XM_006715414.1:c.26236A>C (SYNE1) XP_006715477.1:p.Lys8746Gln
XM_006715415.1:c.26197A>C (SYNE1) XP_006715478.1:p.Lys8733Gln
XM_006715416.1:c.26182A>C (SYNE1) XP_006715479.1:p.Lys8728Gln
XM_006715417.1:c.26167A>C (SYNE1) XP_006715480.1:p.Lys8723Gln
XM_006715420.1:c.26155A>C (SYNE1) XP_006715483.1:p.Lys8719Gln
XM_006715421.1:c.26152A>C (SYNE1) XP_006715484.1:p.Lys8718Gln
XM_006715422.1:c.26149A>C (SYNE1) XP_006715485.1:p.Lys8717Gln
XM_006715423.1:c.26249A>C (SYNE1) XP_006715486.1:p.Lys8750Thr
XM_006715424.1:c.26207A>C (SYNE1) XP_006715487.1:p.Lys8736Thr
XM_006715425.1:c.26138A>C (SYNE1) XP_006715488.1:p.Lys8713Thr
XM_011535641.1:c.26305A>C (SYNE1) XP_011533943.1:p.Lys8769Gln
XM_011535642.1:c.26293A>C (SYNE1) XP_011533944.1:p.Lys8765Gln
XM_011535643.1:c.26143A>C (SYNE1) XP_011533945.1:p.Lys8715Gln
XM_011535644.1:c.24583A>C (SYNE1) XP_011533946.1:p.Lys8195Gln
XM_011535645.1:c.24076A>C (SYNE1) XP_011533947.1:p.Lys8026Gln
XM_011535647.1:c.19543A>C (SYNE1) XP_011533949.1:p.Lys6515Gln
NM_001328100.1:c.851-2597T>G (ESR1) NP_001315029.1:n.851-2597T>G
NM_001347701.1:c.2708A>C (SYNE1) NP_001334630.1:p.Lys903Thr
NM_001347702.1:c.2695A>C (SYNE1) NP_001334631.1:p.Lys899Gln
XM_006715408.2:c.26296A>C (SYNE1) XP_006715471.1:p.Lys8766Gln
XM_006715410.2:c.26266A>C (SYNE1) XP_006715473.1:p.Lys8756Gln
XM_006715412.2:c.26251A>C (SYNE1) XP_006715475.1:p.Lys8751Gln
XM_006715413.2:c.26239A>C (SYNE1) XP_006715476.1:p.Lys8747Gln
XM_006715415.2:c.26197A>C (SYNE1) XP_006715478.1:p.Lys8733Gln
XM_006715416.2:c.26182A>C (SYNE1) XP_006715479.1:p.Lys8728Gln
XM_006715417.2:c.26167A>C (SYNE1) XP_006715480.1:p.Lys8723Gln
XM_006715420.2:c.26155A>C (SYNE1) XP_006715483.1:p.Lys8719Gln
XM_006715421.2:c.26152A>C (SYNE1) XP_006715484.1:p.Lys8718Gln
XM_006715423.2:c.26249A>C (SYNE1) XP_006715486.1:p.Lys8750Thr
XM_006715424.2:c.26207A>C (SYNE1) XP_006715487.1:p.Lys8736Thr
XM_006715425.2:c.26138A>C (SYNE1) XP_006715488.1:p.Lys8713Thr
XM_011535641.2:c.26305A>C (SYNE1) XP_011533943.1:p.Lys8769Gln
XM_011535642.2:c.26293A>C (SYNE1) XP_011533944.1:p.Lys8765Gln
XM_011535645.2:c.24076A>C (SYNE1) XP_011533947.1:p.Lys8026Gln
XM_017010608.1:c.26308A>C (SYNE1) XP_016866097.1:p.Lys8770Gln
XM_017010609.1:c.26308A>C (SYNE1) XP_016866098.1:p.Lys8770Gln
XM_017010610.1:c.26287A>C (SYNE1) XP_016866099.1:p.Lys8763Gln
XM_017010611.2:c.26281A>C (SYNE1) XP_016866100.1:p.Lys8761Gln
XM_017010612.1:c.26230A>C (SYNE1) XP_016866101.1:p.Lys8744Gln
XM_017010613.1:c.26194A>C (SYNE1) XP_016866102.1:p.Lys8732Gln
XM_017010614.1:c.26152A>C (SYNE1) XP_016866103.1:p.Lys8718Gln
XM_017010615.1:c.26041A>C (SYNE1) XP_016866104.1:p.Lys8681Gln
XM_017010616.1:c.26180A>C (SYNE1) XP_016866105.1:p.Lys8727Thr
XM_017010617.1:c.26135A>C (SYNE1) XP_016866106.1:p.Lys8712Thr
XM_017010618.1:c.26123A>C (SYNE1) XP_016866107.1:p.Lys8708Thr
XM_017010619.1:c.24583A>C (SYNE1) XP_016866108.1:p.Lys8195Gln
NM_182961.4:c.26161A>C (SYNE1) MANE Select NP_892006.3:p.Lys8721Gln
NM_001328100.2:c.851-2597T>G (ESR1) NP_001315029.1:n.851-2597T>G
NM_001347701.2:c.2708A>C (SYNE1) NP_001334630.1:p.Lys903Thr
NM_001347702.2:c.2695A>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Lys899Gln
NM_033071.5:c.26017A>C (SYNE1) NP_149062.2:p.Lys8673Gln