Canonical Allele Identifier: CA452969718

Linked Data

MyVariant Identifiers: chr6:g.152443703G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122568G>A , CM000668.2:g.152122568G>A GRCh38
NC_000006.11:g.152443703G>A , CM000668.1:g.152443703G>A GRCh37
NC_000006.10:g.152485396G>A NCBI36
NG_012855.1:g.519832C>T
NG_008493.2:g.470878G>A
NG_012855.2:g.519832C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2796C>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Leu932=
ENST00000367255.10:c.26262C>T (SYNE1) MANE Select ENSP00000356224.5:p.Leu8754=
ENST00000423061.6:c.26118C>T (SYNE1) ENSP00000396024.1:p.Leu8706=
ENST00000672154.1:c.1605C>T (SYNE1)
ENST00000672169.1:c.1980C>T (SYNE1)
ENST00000673173.1:c.1847C>T (SYNE1)
ENST00000673451.1:c.2112C>T (SYNE1) ENSP00000500189.1:n.2112C>T
ENST00000341594.9:c.25047C>T (SYNE1) ENSP00000341887.6:p.Leu8349=
ENST00000347037.9:n.3010C>T (SYNE1)
ENST00000354674.4:c.2796C>T (SYNE1) ENSP00000346701.4:p.Leu932=
ENST00000367251.7:c.5038C>T (SYNE1) ENSP00000356220.3:n.5038C>T
ENST00000367255.9:c.26262C>T (SYNE1) ENSP00000356224.5:p.Leu8754=
ENST00000367256.9:n.9954C>T (SYNE1)
ENST00000367257.8:c.4141C>T (SYNE1) ENSP00000356226.4:n.4141C>T
ENST00000409694.6:n.9846C>T (SYNE1)
ENST00000423061.5:c.26118C>T (SYNE1) ENSP00000396024.1:p.Leu8706=
ENST00000427531.6:c.851-2698G>A (ESR1) ENSP00000394721.2:n.851-2698G>A
ENST00000460912.6:n.2876C>T (SYNE1)
ENST00000478916.5:n.6899C>T (SYNE1)
ENST00000539504.5:c.2727C>T (SYNE1) ENSP00000441052.1:p.Leu909=
NM_033071.3:c.26118C>T (SYNE1) NP_149062.1:p.Leu8706=
NM_182961.3:c.26262C>T (SYNE1) NP_892006.3:p.Leu8754=
XM_006715407.1:c.26409C>T (SYNE1) XP_006715470.1:p.Leu8803=
XM_006715408.1:c.26397C>T (SYNE1) XP_006715471.1:p.Leu8799=
XM_006715409.1:c.26388C>T (SYNE1) XP_006715472.1:p.Leu8796=
XM_006715410.1:c.26367C>T (SYNE1) XP_006715473.1:p.Leu8789=
XM_006715411.1:c.26358C>T (SYNE1) XP_006715474.1:p.Leu8786=
XM_006715412.1:c.26352C>T (SYNE1) XP_006715475.1:p.Leu8784=
XM_006715413.1:c.26340C>T (SYNE1) XP_006715476.1:p.Leu8780=
XM_006715414.1:c.26337C>T (SYNE1) XP_006715477.1:p.Leu8779=
XM_006715415.1:c.26298C>T (SYNE1) XP_006715478.1:p.Leu8766=
XM_006715416.1:c.26283C>T (SYNE1) XP_006715479.1:p.Leu8761=
XM_006715417.1:c.26268C>T (SYNE1) XP_006715480.1:p.Leu8756=
XM_006715420.1:c.26256C>T (SYNE1) XP_006715483.1:p.Leu8752=
XM_006715421.1:c.26253C>T (SYNE1) XP_006715484.1:p.Leu8751=
XM_006715422.1:c.26250C>T (SYNE1) XP_006715485.1:p.Leu8750=
XM_006715423.1:c.*73C>T (SYNE1) XP_006715486.1:n.*73C>T
XM_006715424.1:c.*73C>T (SYNE1) XP_006715487.1:n.*73C>T
XM_006715425.1:c.*73C>T (SYNE1) XP_006715488.1:n.*73C>T
XM_011535641.1:c.26406C>T (SYNE1) XP_011533943.1:p.Leu8802=
XM_011535642.1:c.26394C>T (SYNE1) XP_011533944.1:p.Leu8798=
XM_011535643.1:c.26244C>T (SYNE1) XP_011533945.1:p.Leu8748=
XM_011535644.1:c.24684C>T (SYNE1) XP_011533946.1:p.Leu8228=
XM_011535645.1:c.24177C>T (SYNE1) XP_011533947.1:p.Leu8059=
XM_011535647.1:c.19644C>T (SYNE1) XP_011533949.1:p.Leu6548=
NM_001328100.1:c.851-2698G>A (ESR1) NP_001315029.1:n.851-2698G>A
NM_001347701.1:c.*73C>T (SYNE1) NP_001334630.1:n.*73C>T
NM_001347702.1:c.2796C>T (SYNE1) NP_001334631.1:p.Leu932=
XM_006715408.2:c.26397C>T (SYNE1) XP_006715471.1:p.Leu8799=
XM_006715410.2:c.26367C>T (SYNE1) XP_006715473.1:p.Leu8789=
XM_006715412.2:c.26352C>T (SYNE1) XP_006715475.1:p.Leu8784=
XM_006715413.2:c.26340C>T (SYNE1) XP_006715476.1:p.Leu8780=
XM_006715415.2:c.26298C>T (SYNE1) XP_006715478.1:p.Leu8766=
XM_006715416.2:c.26283C>T (SYNE1) XP_006715479.1:p.Leu8761=
XM_006715417.2:c.26268C>T (SYNE1) XP_006715480.1:p.Leu8756=
XM_006715420.2:c.26256C>T (SYNE1) XP_006715483.1:p.Leu8752=
XM_006715421.2:c.26253C>T (SYNE1) XP_006715484.1:p.Leu8751=
XM_006715423.2:c.*73C>T (SYNE1) XP_006715486.1:n.*73C>T
XM_006715424.2:c.*73C>T (SYNE1) XP_006715487.1:n.*73C>T
XM_006715425.2:c.*73C>T (SYNE1) XP_006715488.1:n.*73C>T
XM_011535641.2:c.26406C>T (SYNE1) XP_011533943.1:p.Leu8802=
XM_011535642.2:c.26394C>T (SYNE1) XP_011533944.1:p.Leu8798=
XM_011535645.2:c.24177C>T (SYNE1) XP_011533947.1:p.Leu8059=
XM_017010608.1:c.26409C>T (SYNE1) XP_016866097.1:p.Leu8803=
XM_017010609.1:c.26409C>T (SYNE1) XP_016866098.1:p.Leu8803=
XM_017010610.1:c.26388C>T (SYNE1) XP_016866099.1:p.Leu8796=
XM_017010611.2:c.26382C>T (SYNE1) XP_016866100.1:p.Leu8794=
XM_017010612.1:c.26331C>T (SYNE1) XP_016866101.1:p.Leu8777=
XM_017010613.1:c.26295C>T (SYNE1) XP_016866102.1:p.Leu8765=
XM_017010614.1:c.26253C>T (SYNE1) XP_016866103.1:p.Leu8751=
XM_017010615.1:c.26142C>T (SYNE1) XP_016866104.1:p.Leu8714=
XM_017010616.1:c.*73C>T (SYNE1) XP_016866105.1:n.*73C>T
XM_017010617.1:c.*73C>T (SYNE1) XP_016866106.1:n.*73C>T
XM_017010618.1:c.*73C>T (SYNE1) XP_016866107.1:n.*73C>T
XM_017010619.1:c.24684C>T (SYNE1) XP_016866108.1:p.Leu8228=
NM_182961.4:c.26262C>T (SYNE1) MANE Select NP_892006.3:p.Leu8754=
NM_001328100.2:c.851-2698G>A (ESR1) NP_001315029.1:n.851-2698G>A
NM_001347701.2:c.*73C>T (SYNE1) NP_001334630.1:n.*73C>T
NM_001347702.2:c.2796C>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Leu932=
NM_033071.5:c.26118C>T (SYNE1) NP_149062.2:p.Leu8706=