Canonical Allele Identifier: CA366089118

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122617C>G , CM000668.2:g.152122617C>G GRCh38
NC_000006.11:g.152443752C>G , CM000668.1:g.152443752C>G GRCh37
NC_000006.10:g.152485445C>G NCBI36
NG_012855.1:g.519783G>C
NG_008493.2:g.470927C>G
NG_012855.2:g.519783G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000354674.5:c.2747G>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Arg916Pro
ENST00000367255.10:c.26213G>C (SYNE1) MANE Select ENSP00000356224.5:p.Arg8738Pro
ENST00000423061.6:c.26069G>C (SYNE1) ENSP00000396024.1:p.Arg8690Pro
ENST00000672154.1:c.1556G>C (SYNE1)
ENST00000672169.1:c.1931G>C (SYNE1)
ENST00000673173.1:c.1798G>C (SYNE1)
ENST00000673451.1:c.2063G>C (SYNE1) ENSP00000500189.1:n.2063G>C
ENST00000341594.9:c.24998G>C (SYNE1) ENSP00000341887.6:p.Arg8333Pro
ENST00000347037.9:n.2961G>C (SYNE1)
ENST00000354674.4:c.2747G>C (SYNE1) ENSP00000346701.4:p.Arg916Pro
ENST00000367251.7:c.4989G>C (SYNE1) ENSP00000356220.3:n.4989G>C
ENST00000367255.9:c.26213G>C (SYNE1) ENSP00000356224.5:p.Arg8738Pro
ENST00000367256.9:n.9905G>C (SYNE1)
ENST00000367257.8:c.4092G>C (SYNE1) ENSP00000356226.4:n.4092G>C
ENST00000409694.6:n.9797G>C (SYNE1)
ENST00000423061.5:c.26069G>C (SYNE1) ENSP00000396024.1:p.Arg8690Pro
ENST00000427531.6:c.851-2649C>G (ESR1) ENSP00000394721.2:n.851-2649C>G
ENST00000460912.6:n.2827G>C (SYNE1)
ENST00000478916.5:n.6850G>C (SYNE1)
ENST00000536990.5:n.2991G>C (SYNE1)
ENST00000539504.5:c.2678G>C (SYNE1) ENSP00000441052.1:p.Arg893Pro
NM_033071.3:c.26069G>C (SYNE1) NP_149062.1:p.Arg8690Pro
NM_182961.3:c.26213G>C (SYNE1) NP_892006.3:p.Arg8738Pro
XM_006715407.1:c.26360G>C (SYNE1) XP_006715470.1:p.Arg8787Pro
XM_006715408.1:c.26348G>C (SYNE1) XP_006715471.1:p.Arg8783Pro
XM_006715409.1:c.26339G>C (SYNE1) XP_006715472.1:p.Arg8780Pro
XM_006715410.1:c.26318G>C (SYNE1) XP_006715473.1:p.Arg8773Pro
XM_006715411.1:c.26309G>C (SYNE1) XP_006715474.1:p.Arg8770Pro
XM_006715412.1:c.26303G>C (SYNE1) XP_006715475.1:p.Arg8768Pro
XM_006715413.1:c.26291G>C (SYNE1) XP_006715476.1:p.Arg8764Pro
XM_006715414.1:c.26288G>C (SYNE1) XP_006715477.1:p.Arg8763Pro
XM_006715415.1:c.26249G>C (SYNE1) XP_006715478.1:p.Arg8750Pro
XM_006715416.1:c.26234G>C (SYNE1) XP_006715479.1:p.Arg8745Pro
XM_006715417.1:c.26219G>C (SYNE1) XP_006715480.1:p.Arg8740Pro
XM_006715420.1:c.26207G>C (SYNE1) XP_006715483.1:p.Arg8736Pro
XM_006715421.1:c.26204G>C (SYNE1) XP_006715484.1:p.Arg8735Pro
XM_006715422.1:c.26201G>C (SYNE1) XP_006715485.1:p.Arg8734Pro
XM_006715423.1:c.*24G>C (SYNE1) XP_006715486.1:n.*24G>C
XM_006715424.1:c.*24G>C (SYNE1) XP_006715487.1:n.*24G>C
XM_006715425.1:c.*24G>C (SYNE1) XP_006715488.1:n.*24G>C
XM_011535641.1:c.26357G>C (SYNE1) XP_011533943.1:p.Arg8786Pro
XM_011535642.1:c.26345G>C (SYNE1) XP_011533944.1:p.Arg8782Pro
XM_011535643.1:c.26195G>C (SYNE1) XP_011533945.1:p.Arg8732Pro
XM_011535644.1:c.24635G>C (SYNE1) XP_011533946.1:p.Arg8212Pro
XM_011535645.1:c.24128G>C (SYNE1) XP_011533947.1:p.Arg8043Pro
XM_011535647.1:c.19595G>C (SYNE1) XP_011533949.1:p.Arg6532Pro
NM_001328100.1:c.851-2649C>G (ESR1) NP_001315029.1:n.851-2649C>G
NM_001347701.1:c.*24G>C (SYNE1) NP_001334630.1:n.*24G>C
NM_001347702.1:c.2747G>C (SYNE1) NP_001334631.1:p.Arg916Pro
XM_006715408.2:c.26348G>C (SYNE1) XP_006715471.1:p.Arg8783Pro
XM_006715410.2:c.26318G>C (SYNE1) XP_006715473.1:p.Arg8773Pro
XM_006715412.2:c.26303G>C (SYNE1) XP_006715475.1:p.Arg8768Pro
XM_006715413.2:c.26291G>C (SYNE1) XP_006715476.1:p.Arg8764Pro
XM_006715415.2:c.26249G>C (SYNE1) XP_006715478.1:p.Arg8750Pro
XM_006715416.2:c.26234G>C (SYNE1) XP_006715479.1:p.Arg8745Pro
XM_006715417.2:c.26219G>C (SYNE1) XP_006715480.1:p.Arg8740Pro
XM_006715420.2:c.26207G>C (SYNE1) XP_006715483.1:p.Arg8736Pro
XM_006715421.2:c.26204G>C (SYNE1) XP_006715484.1:p.Arg8735Pro
XM_006715423.2:c.*24G>C (SYNE1) XP_006715486.1:n.*24G>C
XM_006715424.2:c.*24G>C (SYNE1) XP_006715487.1:n.*24G>C
XM_006715425.2:c.*24G>C (SYNE1) XP_006715488.1:n.*24G>C
XM_011535641.2:c.26357G>C (SYNE1) XP_011533943.1:p.Arg8786Pro
XM_011535642.2:c.26345G>C (SYNE1) XP_011533944.1:p.Arg8782Pro
XM_011535645.2:c.24128G>C (SYNE1) XP_011533947.1:p.Arg8043Pro
XM_017010608.1:c.26360G>C (SYNE1) XP_016866097.1:p.Arg8787Pro
XM_017010609.1:c.26360G>C (SYNE1) XP_016866098.1:p.Arg8787Pro
XM_017010610.1:c.26339G>C (SYNE1) XP_016866099.1:p.Arg8780Pro
XM_017010611.2:c.26333G>C (SYNE1) XP_016866100.1:p.Arg8778Pro
XM_017010612.1:c.26282G>C (SYNE1) XP_016866101.1:p.Arg8761Pro
XM_017010613.1:c.26246G>C (SYNE1) XP_016866102.1:p.Arg8749Pro
XM_017010614.1:c.26204G>C (SYNE1) XP_016866103.1:p.Arg8735Pro
XM_017010615.1:c.26093G>C (SYNE1) XP_016866104.1:p.Arg8698Pro
XM_017010616.1:c.*24G>C (SYNE1) XP_016866105.1:n.*24G>C
XM_017010617.1:c.*24G>C (SYNE1) XP_016866106.1:n.*24G>C
XM_017010618.1:c.*24G>C (SYNE1) XP_016866107.1:n.*24G>C
XM_017010619.1:c.24635G>C (SYNE1) XP_016866108.1:p.Arg8212Pro
NM_182961.4:c.26213G>C (SYNE1) MANE Select NP_892006.3:p.Arg8738Pro
NM_001328100.2:c.851-2649C>G (ESR1) NP_001315029.1:n.851-2649C>G
NM_001347701.2:c.*24G>C (SYNE1) NP_001334630.1:n.*24G>C
NM_001347702.2:c.2747G>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Arg916Pro
NM_033071.5:c.26069G>C (SYNE1) NP_149062.2:p.Arg8690Pro