Canonical Allele Identifier: CA366082951
Gene: SYNE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152143641G>C , CM000668.2:g.152143641G>C GRCh38
NC_000006.11:g.152464776G>C , CM000668.1:g.152464776G>C GRCh37
NC_000006.10:g.152506469G>C NCBI36
NG_012855.1:g.498759C>G
NG_012855.2:g.498759C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.1635C>G MANE Plus Clinical ENSP00000346701.4:p.Asp545Glu
ENST00000367255.10:c.25101C>G MANE Select ENSP00000356224.5:p.Asp8367Glu
ENST00000423061.6:c.24957C>G ENSP00000396024.1:p.Asp8319Glu
ENST00000672154.1:c.503C>G
ENST00000672169.1:c.836C>G
ENST00000673173.1:c.891-3480C>G
ENST00000673451.1:c.873C>G ENSP00000500189.1:p.Asp291Glu
ENST00000341594.9:c.23886C>G ENSP00000341887.6:p.Asp7962Glu
ENST00000347037.9:n.1849C>G
ENST00000354674.4:c.1635C>G ENSP00000346701.4:p.Asp545Glu
ENST00000367251.7:c.3936C>G ENSP00000356220.3:p.Asp1312Glu
ENST00000367255.9:c.25101C>G ENSP00000356224.5:p.Asp8367Glu
ENST00000367256.9:n.8793C>G
ENST00000367257.8:c.3039C>G ENSP00000356226.4:p.Asp1013Glu
ENST00000409694.6:n.8685C>G
ENST00000423061.5:c.24957C>G ENSP00000396024.1:p.Asp8319Glu
ENST00000460912.6:n.1715C>G
ENST00000478916.5:n.4123C>G
ENST00000536990.5:n.1938C>G
ENST00000539504.5:c.1566C>G ENSP00000441052.1:p.Asp522Glu
NM_033071.3:c.24957C>G NP_149062.1:p.Asp8319Glu
NM_182961.3:c.25101C>G NP_892006.3:p.Asp8367Glu
XM_006715407.1:c.25206C>G XP_006715470.1:p.Asp8402Glu
XM_006715408.1:c.25194C>G XP_006715471.1:p.Asp8398Glu
XM_006715409.1:c.25185C>G XP_006715472.1:p.Asp8395Glu
XM_006715410.1:c.25206C>G XP_006715473.1:p.Asp8402Glu
XM_006715411.1:c.25155C>G XP_006715474.1:p.Asp8385Glu
XM_006715412.1:c.25191C>G XP_006715475.1:p.Asp8397Glu
XM_006715413.1:c.25137C>G XP_006715476.1:p.Asp8379Glu
XM_006715414.1:c.25134C>G XP_006715477.1:p.Asp8378Glu
XM_006715415.1:c.25137C>G XP_006715478.1:p.Asp8379Glu
XM_006715416.1:c.25122C>G XP_006715479.1:p.Asp8374Glu
XM_006715417.1:c.25065C>G XP_006715480.1:p.Asp8355Glu
XM_006715420.1:c.25053C>G XP_006715483.1:p.Asp8351Glu
XM_006715421.1:c.25050C>G XP_006715484.1:p.Asp8350Glu
XM_006715422.1:c.25047C>G XP_006715485.1:p.Asp8349Glu
XM_006715423.1:c.25206C>G XP_006715486.1:p.Asp8402Glu
XM_006715424.1:c.25206C>G XP_006715487.1:p.Asp8402Glu
XM_006715425.1:c.25137C>G XP_006715488.1:p.Asp8379Glu
XM_011535641.1:c.25203C>G XP_011533943.1:p.Asp8401Glu
XM_011535642.1:c.25191C>G XP_011533944.1:p.Asp8397Glu
XM_011535643.1:c.25041C>G XP_011533945.1:p.Asp8347Glu
XM_011535644.1:c.23481C>G XP_011533946.1:p.Asp7827Glu
XM_011535645.1:c.22974C>G XP_011533947.1:p.Asp7658Glu
XM_011535647.1:c.18441C>G XP_011533949.1:p.Asp6147Glu
NM_001347701.1:c.1707C>G NP_001334630.1:p.Asp569Glu
NM_001347702.1:c.1635C>G NP_001334631.1:p.Asp545Glu
XM_006715408.2:c.25194C>G XP_006715471.1:p.Asp8398Glu
XM_006715410.2:c.25206C>G XP_006715473.1:p.Asp8402Glu
XM_006715412.2:c.25191C>G XP_006715475.1:p.Asp8397Glu
XM_006715413.2:c.25137C>G XP_006715476.1:p.Asp8379Glu
XM_006715415.2:c.25137C>G XP_006715478.1:p.Asp8379Glu
XM_006715416.2:c.25122C>G XP_006715479.1:p.Asp8374Glu
XM_006715417.2:c.25065C>G XP_006715480.1:p.Asp8355Glu
XM_006715420.2:c.25053C>G XP_006715483.1:p.Asp8351Glu
XM_006715421.2:c.25050C>G XP_006715484.1:p.Asp8350Glu
XM_006715423.2:c.25206C>G XP_006715486.1:p.Asp8402Glu
XM_006715424.2:c.25206C>G XP_006715487.1:p.Asp8402Glu
XM_006715425.2:c.25137C>G XP_006715488.1:p.Asp8379Glu
XM_011535641.2:c.25203C>G XP_011533943.1:p.Asp8401Glu
XM_011535642.2:c.25191C>G XP_011533944.1:p.Asp8397Glu
XM_011535645.2:c.22974C>G XP_011533947.1:p.Asp7658Glu
XM_017010608.1:c.25206C>G XP_016866097.1:p.Asp8402Glu
XM_017010609.1:c.25206C>G XP_016866098.1:p.Asp8402Glu
XM_017010610.1:c.25185C>G XP_016866099.1:p.Asp8395Glu
XM_017010611.2:c.25179C>G XP_016866100.1:p.Asp8393Glu
XM_017010612.1:c.25128C>G XP_016866101.1:p.Asp8376Glu
XM_017010613.1:c.25134C>G XP_016866102.1:p.Asp8378Glu
XM_017010614.1:c.25050C>G XP_016866103.1:p.Asp8350Glu
XM_017010615.1:c.24981C>G XP_016866104.1:p.Asp8327Glu
XM_017010616.1:c.25137C>G XP_016866105.1:p.Asp8379Glu
XM_017010617.1:c.25134C>G XP_016866106.1:p.Asp8378Glu
XM_017010618.1:c.25122C>G XP_016866107.1:p.Asp8374Glu
XM_017010619.1:c.23481C>G XP_016866108.1:p.Asp7827Glu
NM_182961.4:c.25101C>G MANE Select NP_892006.3:p.Asp8367Glu
NM_001347701.2:c.1707C>G NP_001334630.1:p.Asp569Glu
NM_001347702.2:c.1635C>G MANE Plus Clinical NP_001334631.1:p.Asp545Glu
NM_033071.5:c.24957C>G NP_149062.2:p.Asp8319Glu