Canonical Allele Identifier: CA366089240

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122660A>G , CM000668.2:g.152122660A>G GRCh38
NC_000006.11:g.152443795A>G , CM000668.1:g.152443795A>G GRCh37
NC_000006.10:g.152485488A>G NCBI36
NG_012855.1:g.519740T>C
NG_008493.2:g.470970A>G
NG_012855.2:g.519740T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2704T>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Ser902Pro
ENST00000367255.10:c.26170T>C (SYNE1) MANE Select ENSP00000356224.5:p.Ser8724Pro
ENST00000423061.6:c.26026T>C (SYNE1) ENSP00000396024.1:p.Ser8676Pro
ENST00000672154.1:c.1513T>C (SYNE1)
ENST00000672169.1:c.1888T>C (SYNE1)
ENST00000673173.1:c.1755T>C (SYNE1)
ENST00000673451.1:c.2020T>C (SYNE1) ENSP00000500189.1:n.2020T>C
ENST00000341594.9:c.24955T>C (SYNE1) ENSP00000341887.6:p.Ser8319Pro
ENST00000347037.9:n.2918T>C (SYNE1)
ENST00000354674.4:c.2704T>C (SYNE1) ENSP00000346701.4:p.Ser902Pro
ENST00000367251.7:c.4946T>C (SYNE1) ENSP00000356220.3:p.Leu1649Pro
ENST00000367255.9:c.26170T>C (SYNE1) ENSP00000356224.5:p.Ser8724Pro
ENST00000367256.9:n.9862T>C (SYNE1)
ENST00000367257.8:c.4049T>C (SYNE1) ENSP00000356226.4:p.Leu1350Pro
ENST00000409694.6:n.9754T>C (SYNE1)
ENST00000423061.5:c.26026T>C (SYNE1) ENSP00000396024.1:p.Ser8676Pro
ENST00000427531.6:c.851-2606A>G (ESR1) ENSP00000394721.2:n.851-2606A>G
ENST00000460912.6:n.2784T>C (SYNE1)
ENST00000478916.5:n.6807T>C (SYNE1)
ENST00000536990.5:n.2948T>C (SYNE1)
ENST00000539504.5:c.2635T>C (SYNE1) ENSP00000441052.1:p.Ser879Pro
NM_033071.3:c.26026T>C (SYNE1) NP_149062.1:p.Ser8676Pro
NM_182961.3:c.26170T>C (SYNE1) NP_892006.3:p.Ser8724Pro
XM_006715407.1:c.26317T>C (SYNE1) XP_006715470.1:p.Ser8773Pro
XM_006715408.1:c.26305T>C (SYNE1) XP_006715471.1:p.Ser8769Pro
XM_006715409.1:c.26296T>C (SYNE1) XP_006715472.1:p.Ser8766Pro
XM_006715410.1:c.26275T>C (SYNE1) XP_006715473.1:p.Ser8759Pro
XM_006715411.1:c.26266T>C (SYNE1) XP_006715474.1:p.Ser8756Pro
XM_006715412.1:c.26260T>C (SYNE1) XP_006715475.1:p.Ser8754Pro
XM_006715413.1:c.26248T>C (SYNE1) XP_006715476.1:p.Ser8750Pro
XM_006715414.1:c.26245T>C (SYNE1) XP_006715477.1:p.Ser8749Pro
XM_006715415.1:c.26206T>C (SYNE1) XP_006715478.1:p.Ser8736Pro
XM_006715416.1:c.26191T>C (SYNE1) XP_006715479.1:p.Ser8731Pro
XM_006715417.1:c.26176T>C (SYNE1) XP_006715480.1:p.Ser8726Pro
XM_006715420.1:c.26164T>C (SYNE1) XP_006715483.1:p.Ser8722Pro
XM_006715421.1:c.26161T>C (SYNE1) XP_006715484.1:p.Ser8721Pro
XM_006715422.1:c.26158T>C (SYNE1) XP_006715485.1:p.Ser8720Pro
XM_006715423.1:c.26258T>C (SYNE1) XP_006715486.1:p.Leu8753Pro
XM_006715424.1:c.26216T>C (SYNE1) XP_006715487.1:p.Leu8739Pro
XM_006715425.1:c.26147T>C (SYNE1) XP_006715488.1:p.Leu8716Pro
XM_011535641.1:c.26314T>C (SYNE1) XP_011533943.1:p.Ser8772Pro
XM_011535642.1:c.26302T>C (SYNE1) XP_011533944.1:p.Ser8768Pro
XM_011535643.1:c.26152T>C (SYNE1) XP_011533945.1:p.Ser8718Pro
XM_011535644.1:c.24592T>C (SYNE1) XP_011533946.1:p.Ser8198Pro
XM_011535645.1:c.24085T>C (SYNE1) XP_011533947.1:p.Ser8029Pro
XM_011535647.1:c.19552T>C (SYNE1) XP_011533949.1:p.Ser6518Pro
NM_001328100.1:c.851-2606A>G (ESR1) NP_001315029.1:n.851-2606A>G
NM_001347701.1:c.2717T>C (SYNE1) NP_001334630.1:p.Leu906Pro
NM_001347702.1:c.2704T>C (SYNE1) NP_001334631.1:p.Ser902Pro
XM_006715408.2:c.26305T>C (SYNE1) XP_006715471.1:p.Ser8769Pro
XM_006715410.2:c.26275T>C (SYNE1) XP_006715473.1:p.Ser8759Pro
XM_006715412.2:c.26260T>C (SYNE1) XP_006715475.1:p.Ser8754Pro
XM_006715413.2:c.26248T>C (SYNE1) XP_006715476.1:p.Ser8750Pro
XM_006715415.2:c.26206T>C (SYNE1) XP_006715478.1:p.Ser8736Pro
XM_006715416.2:c.26191T>C (SYNE1) XP_006715479.1:p.Ser8731Pro
XM_006715417.2:c.26176T>C (SYNE1) XP_006715480.1:p.Ser8726Pro
XM_006715420.2:c.26164T>C (SYNE1) XP_006715483.1:p.Ser8722Pro
XM_006715421.2:c.26161T>C (SYNE1) XP_006715484.1:p.Ser8721Pro
XM_006715423.2:c.26258T>C (SYNE1) XP_006715486.1:p.Leu8753Pro
XM_006715424.2:c.26216T>C (SYNE1) XP_006715487.1:p.Leu8739Pro
XM_006715425.2:c.26147T>C (SYNE1) XP_006715488.1:p.Leu8716Pro
XM_011535641.2:c.26314T>C (SYNE1) XP_011533943.1:p.Ser8772Pro
XM_011535642.2:c.26302T>C (SYNE1) XP_011533944.1:p.Ser8768Pro
XM_011535645.2:c.24085T>C (SYNE1) XP_011533947.1:p.Ser8029Pro
XM_017010608.1:c.26317T>C (SYNE1) XP_016866097.1:p.Ser8773Pro
XM_017010609.1:c.26317T>C (SYNE1) XP_016866098.1:p.Ser8773Pro
XM_017010610.1:c.26296T>C (SYNE1) XP_016866099.1:p.Ser8766Pro
XM_017010611.2:c.26290T>C (SYNE1) XP_016866100.1:p.Ser8764Pro
XM_017010612.1:c.26239T>C (SYNE1) XP_016866101.1:p.Ser8747Pro
XM_017010613.1:c.26203T>C (SYNE1) XP_016866102.1:p.Ser8735Pro
XM_017010614.1:c.26161T>C (SYNE1) XP_016866103.1:p.Ser8721Pro
XM_017010615.1:c.26050T>C (SYNE1) XP_016866104.1:p.Ser8684Pro
XM_017010616.1:c.26189T>C (SYNE1) XP_016866105.1:p.Leu8730Pro
XM_017010617.1:c.26144T>C (SYNE1) XP_016866106.1:p.Leu8715Pro
XM_017010618.1:c.26132T>C (SYNE1) XP_016866107.1:p.Leu8711Pro
XM_017010619.1:c.24592T>C (SYNE1) XP_016866108.1:p.Ser8198Pro
NM_182961.4:c.26170T>C (SYNE1) MANE Select NP_892006.3:p.Ser8724Pro
NM_001328100.2:c.851-2606A>G (ESR1) NP_001315029.1:n.851-2606A>G
NM_001347701.2:c.2717T>C (SYNE1) NP_001334630.1:p.Leu906Pro
NM_001347702.2:c.2704T>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Ser902Pro
NM_033071.5:c.26026T>C (SYNE1) NP_149062.2:p.Ser8676Pro