Canonical Allele Identifier: CA366089284

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122675A>G , CM000668.2:g.152122675A>G GRCh38
NC_000006.11:g.152443810A>G , CM000668.1:g.152443810A>G GRCh37
NC_000006.10:g.152485503A>G NCBI36
NG_012855.1:g.519725T>C
NG_008493.2:g.470985A>G
NG_012855.2:g.519725T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2689T>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Ser897Pro
ENST00000367255.10:c.26155T>C (SYNE1) MANE Select ENSP00000356224.5:p.Ser8719Pro
ENST00000423061.6:c.26011T>C (SYNE1) ENSP00000396024.1:p.Ser8671Pro
ENST00000672154.1:c.1498T>C (SYNE1)
ENST00000672169.1:c.1873T>C (SYNE1)
ENST00000673173.1:c.1740T>C (SYNE1)
ENST00000673451.1:c.2005T>C (SYNE1) ENSP00000500189.1:n.2005T>C
ENST00000341594.9:c.24940T>C (SYNE1) ENSP00000341887.6:p.Ser8314Pro
ENST00000347037.9:n.2903T>C (SYNE1)
ENST00000354674.4:c.2689T>C (SYNE1) ENSP00000346701.4:p.Ser897Pro
ENST00000367251.7:c.4931T>C (SYNE1) ENSP00000356220.3:p.Val1644Ala
ENST00000367255.9:c.26155T>C (SYNE1) ENSP00000356224.5:p.Ser8719Pro
ENST00000367256.9:n.9847T>C (SYNE1)
ENST00000367257.8:c.4034T>C (SYNE1) ENSP00000356226.4:p.Val1345Ala
ENST00000409694.6:n.9739T>C (SYNE1)
ENST00000423061.5:c.26011T>C (SYNE1) ENSP00000396024.1:p.Ser8671Pro
ENST00000427531.6:c.851-2591A>G (ESR1) ENSP00000394721.2:n.851-2591A>G
ENST00000460912.6:n.2769T>C (SYNE1)
ENST00000478916.5:n.6792T>C (SYNE1)
ENST00000536990.5:n.2933T>C (SYNE1)
ENST00000539504.5:c.2620T>C (SYNE1) ENSP00000441052.1:p.Ser874Pro
NM_033071.3:c.26011T>C (SYNE1) NP_149062.1:p.Ser8671Pro
NM_182961.3:c.26155T>C (SYNE1) NP_892006.3:p.Ser8719Pro
XM_006715407.1:c.26302T>C (SYNE1) XP_006715470.1:p.Ser8768Pro
XM_006715408.1:c.26290T>C (SYNE1) XP_006715471.1:p.Ser8764Pro
XM_006715409.1:c.26281T>C (SYNE1) XP_006715472.1:p.Ser8761Pro
XM_006715410.1:c.26260T>C (SYNE1) XP_006715473.1:p.Ser8754Pro
XM_006715411.1:c.26251T>C (SYNE1) XP_006715474.1:p.Ser8751Pro
XM_006715412.1:c.26245T>C (SYNE1) XP_006715475.1:p.Ser8749Pro
XM_006715413.1:c.26233T>C (SYNE1) XP_006715476.1:p.Ser8745Pro
XM_006715414.1:c.26230T>C (SYNE1) XP_006715477.1:p.Ser8744Pro
XM_006715415.1:c.26191T>C (SYNE1) XP_006715478.1:p.Ser8731Pro
XM_006715416.1:c.26176T>C (SYNE1) XP_006715479.1:p.Ser8726Pro
XM_006715417.1:c.26161T>C (SYNE1) XP_006715480.1:p.Ser8721Pro
XM_006715420.1:c.26149T>C (SYNE1) XP_006715483.1:p.Ser8717Pro
XM_006715421.1:c.26146T>C (SYNE1) XP_006715484.1:p.Ser8716Pro
XM_006715422.1:c.26143T>C (SYNE1) XP_006715485.1:p.Ser8715Pro
XM_006715423.1:c.26243T>C (SYNE1) XP_006715486.1:p.Val8748Ala
XM_006715424.1:c.26201T>C (SYNE1) XP_006715487.1:p.Val8734Ala
XM_006715425.1:c.26132T>C (SYNE1) XP_006715488.1:p.Val8711Ala
XM_011535641.1:c.26299T>C (SYNE1) XP_011533943.1:p.Ser8767Pro
XM_011535642.1:c.26287T>C (SYNE1) XP_011533944.1:p.Ser8763Pro
XM_011535643.1:c.26137T>C (SYNE1) XP_011533945.1:p.Ser8713Pro
XM_011535644.1:c.24577T>C (SYNE1) XP_011533946.1:p.Ser8193Pro
XM_011535645.1:c.24070T>C (SYNE1) XP_011533947.1:p.Ser8024Pro
XM_011535647.1:c.19537T>C (SYNE1) XP_011533949.1:p.Ser6513Pro
NM_001328100.1:c.851-2591A>G (ESR1) NP_001315029.1:n.851-2591A>G
NM_001347701.1:c.2702T>C (SYNE1) NP_001334630.1:p.Val901Ala
NM_001347702.1:c.2689T>C (SYNE1) NP_001334631.1:p.Ser897Pro
XM_006715408.2:c.26290T>C (SYNE1) XP_006715471.1:p.Ser8764Pro
XM_006715410.2:c.26260T>C (SYNE1) XP_006715473.1:p.Ser8754Pro
XM_006715412.2:c.26245T>C (SYNE1) XP_006715475.1:p.Ser8749Pro
XM_006715413.2:c.26233T>C (SYNE1) XP_006715476.1:p.Ser8745Pro
XM_006715415.2:c.26191T>C (SYNE1) XP_006715478.1:p.Ser8731Pro
XM_006715416.2:c.26176T>C (SYNE1) XP_006715479.1:p.Ser8726Pro
XM_006715417.2:c.26161T>C (SYNE1) XP_006715480.1:p.Ser8721Pro
XM_006715420.2:c.26149T>C (SYNE1) XP_006715483.1:p.Ser8717Pro
XM_006715421.2:c.26146T>C (SYNE1) XP_006715484.1:p.Ser8716Pro
XM_006715423.2:c.26243T>C (SYNE1) XP_006715486.1:p.Val8748Ala
XM_006715424.2:c.26201T>C (SYNE1) XP_006715487.1:p.Val8734Ala
XM_006715425.2:c.26132T>C (SYNE1) XP_006715488.1:p.Val8711Ala
XM_011535641.2:c.26299T>C (SYNE1) XP_011533943.1:p.Ser8767Pro
XM_011535642.2:c.26287T>C (SYNE1) XP_011533944.1:p.Ser8763Pro
XM_011535645.2:c.24070T>C (SYNE1) XP_011533947.1:p.Ser8024Pro
XM_017010608.1:c.26302T>C (SYNE1) XP_016866097.1:p.Ser8768Pro
XM_017010609.1:c.26302T>C (SYNE1) XP_016866098.1:p.Ser8768Pro
XM_017010610.1:c.26281T>C (SYNE1) XP_016866099.1:p.Ser8761Pro
XM_017010611.2:c.26275T>C (SYNE1) XP_016866100.1:p.Ser8759Pro
XM_017010612.1:c.26224T>C (SYNE1) XP_016866101.1:p.Ser8742Pro
XM_017010613.1:c.26188T>C (SYNE1) XP_016866102.1:p.Ser8730Pro
XM_017010614.1:c.26146T>C (SYNE1) XP_016866103.1:p.Ser8716Pro
XM_017010615.1:c.26035T>C (SYNE1) XP_016866104.1:p.Ser8679Pro
XM_017010616.1:c.26174T>C (SYNE1) XP_016866105.1:p.Val8725Ala
XM_017010617.1:c.26129T>C (SYNE1) XP_016866106.1:p.Val8710Ala
XM_017010618.1:c.26117T>C (SYNE1) XP_016866107.1:p.Val8706Ala
XM_017010619.1:c.24577T>C (SYNE1) XP_016866108.1:p.Ser8193Pro
NM_182961.4:c.26155T>C (SYNE1) MANE Select NP_892006.3:p.Ser8719Pro
NM_001328100.2:c.851-2591A>G (ESR1) NP_001315029.1:n.851-2591A>G
NM_001347701.2:c.2702T>C (SYNE1) NP_001334630.1:p.Val901Ala
NM_001347702.2:c.2689T>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Ser897Pro
NM_033071.5:c.26011T>C (SYNE1) NP_149062.2:p.Ser8671Pro