Canonical Allele Identifier: CA452969676

Linked Data

MyVariant Identifiers: chr6:g.152443766T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122631T>C , CM000668.2:g.152122631T>C GRCh38
NC_000006.11:g.152443766T>C , CM000668.1:g.152443766T>C GRCh37
NC_000006.10:g.152485459T>C NCBI36
NG_012855.1:g.519769A>G
NG_008493.2:g.470941T>C
NG_012855.2:g.519769A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2733A>G (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Pro911=
ENST00000367255.10:c.26199A>G (SYNE1) MANE Select ENSP00000356224.5:p.Pro8733=
ENST00000423061.6:c.26055A>G (SYNE1) ENSP00000396024.1:p.Pro8685=
ENST00000672154.1:c.1542A>G (SYNE1)
ENST00000672169.1:c.1917A>G (SYNE1)
ENST00000673173.1:c.1784A>G (SYNE1)
ENST00000673451.1:c.2049A>G (SYNE1) ENSP00000500189.1:n.2049A>G
ENST00000341594.9:c.24984A>G (SYNE1) ENSP00000341887.6:p.Pro8328=
ENST00000347037.9:n.2947A>G (SYNE1)
ENST00000354674.4:c.2733A>G (SYNE1) ENSP00000346701.4:p.Pro911=
ENST00000367251.7:c.4975A>G (SYNE1) ENSP00000356220.3:n.4975A>G
ENST00000367255.9:c.26199A>G (SYNE1) ENSP00000356224.5:p.Pro8733=
ENST00000367256.9:n.9891A>G (SYNE1)
ENST00000367257.8:c.4078A>G (SYNE1) ENSP00000356226.4:n.4078A>G
ENST00000409694.6:n.9783A>G (SYNE1)
ENST00000423061.5:c.26055A>G (SYNE1) ENSP00000396024.1:p.Pro8685=
ENST00000427531.6:c.851-2635T>C (ESR1) ENSP00000394721.2:n.851-2635T>C
ENST00000460912.6:n.2813A>G (SYNE1)
ENST00000478916.5:n.6836A>G (SYNE1)
ENST00000536990.5:n.2977A>G (SYNE1)
ENST00000539504.5:c.2664A>G (SYNE1) ENSP00000441052.1:p.Pro888=
NM_033071.3:c.26055A>G (SYNE1) NP_149062.1:p.Pro8685=
NM_182961.3:c.26199A>G (SYNE1) NP_892006.3:p.Pro8733=
XM_006715407.1:c.26346A>G (SYNE1) XP_006715470.1:p.Pro8782=
XM_006715408.1:c.26334A>G (SYNE1) XP_006715471.1:p.Pro8778=
XM_006715409.1:c.26325A>G (SYNE1) XP_006715472.1:p.Pro8775=
XM_006715410.1:c.26304A>G (SYNE1) XP_006715473.1:p.Pro8768=
XM_006715411.1:c.26295A>G (SYNE1) XP_006715474.1:p.Pro8765=
XM_006715412.1:c.26289A>G (SYNE1) XP_006715475.1:p.Pro8763=
XM_006715413.1:c.26277A>G (SYNE1) XP_006715476.1:p.Pro8759=
XM_006715414.1:c.26274A>G (SYNE1) XP_006715477.1:p.Pro8758=
XM_006715415.1:c.26235A>G (SYNE1) XP_006715478.1:p.Pro8745=
XM_006715416.1:c.26220A>G (SYNE1) XP_006715479.1:p.Pro8740=
XM_006715417.1:c.26205A>G (SYNE1) XP_006715480.1:p.Pro8735=
XM_006715420.1:c.26193A>G (SYNE1) XP_006715483.1:p.Pro8731=
XM_006715421.1:c.26190A>G (SYNE1) XP_006715484.1:p.Pro8730=
XM_006715422.1:c.26187A>G (SYNE1) XP_006715485.1:p.Pro8729=
XM_006715423.1:c.*10A>G (SYNE1) XP_006715486.1:n.*10A>G
XM_006715424.1:c.*10A>G (SYNE1) XP_006715487.1:n.*10A>G
XM_006715425.1:c.*10A>G (SYNE1) XP_006715488.1:n.*10A>G
XM_011535641.1:c.26343A>G (SYNE1) XP_011533943.1:p.Pro8781=
XM_011535642.1:c.26331A>G (SYNE1) XP_011533944.1:p.Pro8777=
XM_011535643.1:c.26181A>G (SYNE1) XP_011533945.1:p.Pro8727=
XM_011535644.1:c.24621A>G (SYNE1) XP_011533946.1:p.Pro8207=
XM_011535645.1:c.24114A>G (SYNE1) XP_011533947.1:p.Pro8038=
XM_011535647.1:c.19581A>G (SYNE1) XP_011533949.1:p.Pro6527=
NM_001328100.1:c.851-2635T>C (ESR1) NP_001315029.1:n.851-2635T>C
NM_001347701.1:c.*10A>G (SYNE1) NP_001334630.1:n.*10A>G
NM_001347702.1:c.2733A>G (SYNE1) NP_001334631.1:p.Pro911=
XM_006715408.2:c.26334A>G (SYNE1) XP_006715471.1:p.Pro8778=
XM_006715410.2:c.26304A>G (SYNE1) XP_006715473.1:p.Pro8768=
XM_006715412.2:c.26289A>G (SYNE1) XP_006715475.1:p.Pro8763=
XM_006715413.2:c.26277A>G (SYNE1) XP_006715476.1:p.Pro8759=
XM_006715415.2:c.26235A>G (SYNE1) XP_006715478.1:p.Pro8745=
XM_006715416.2:c.26220A>G (SYNE1) XP_006715479.1:p.Pro8740=
XM_006715417.2:c.26205A>G (SYNE1) XP_006715480.1:p.Pro8735=
XM_006715420.2:c.26193A>G (SYNE1) XP_006715483.1:p.Pro8731=
XM_006715421.2:c.26190A>G (SYNE1) XP_006715484.1:p.Pro8730=
XM_006715423.2:c.*10A>G (SYNE1) XP_006715486.1:n.*10A>G
XM_006715424.2:c.*10A>G (SYNE1) XP_006715487.1:n.*10A>G
XM_006715425.2:c.*10A>G (SYNE1) XP_006715488.1:n.*10A>G
XM_011535641.2:c.26343A>G (SYNE1) XP_011533943.1:p.Pro8781=
XM_011535642.2:c.26331A>G (SYNE1) XP_011533944.1:p.Pro8777=
XM_011535645.2:c.24114A>G (SYNE1) XP_011533947.1:p.Pro8038=
XM_017010608.1:c.26346A>G (SYNE1) XP_016866097.1:p.Pro8782=
XM_017010609.1:c.26346A>G (SYNE1) XP_016866098.1:p.Pro8782=
XM_017010610.1:c.26325A>G (SYNE1) XP_016866099.1:p.Pro8775=
XM_017010611.2:c.26319A>G (SYNE1) XP_016866100.1:p.Pro8773=
XM_017010612.1:c.26268A>G (SYNE1) XP_016866101.1:p.Pro8756=
XM_017010613.1:c.26232A>G (SYNE1) XP_016866102.1:p.Pro8744=
XM_017010614.1:c.26190A>G (SYNE1) XP_016866103.1:p.Pro8730=
XM_017010615.1:c.26079A>G (SYNE1) XP_016866104.1:p.Pro8693=
XM_017010616.1:c.*10A>G (SYNE1) XP_016866105.1:n.*10A>G
XM_017010617.1:c.*10A>G (SYNE1) XP_016866106.1:n.*10A>G
XM_017010618.1:c.*10A>G (SYNE1) XP_016866107.1:n.*10A>G
XM_017010619.1:c.24621A>G (SYNE1) XP_016866108.1:p.Pro8207=
NM_182961.4:c.26199A>G (SYNE1) MANE Select NP_892006.3:p.Pro8733=
NM_001328100.2:c.851-2635T>C (ESR1) NP_001315029.1:n.851-2635T>C
NM_001347701.2:c.*10A>G (SYNE1) NP_001334630.1:n.*10A>G
NM_001347702.2:c.2733A>G (SYNE1) MANE Plus Clinical NP_001334631.1:p.Pro911=
NM_033071.5:c.26055A>G (SYNE1) NP_149062.2:p.Pro8685=