Canonical Allele Identifier: CA452969641

Linked Data

MyVariant Identifiers: chr6:g.152443748G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122613G>A , CM000668.2:g.152122613G>A GRCh38
NC_000006.11:g.152443748G>A , CM000668.1:g.152443748G>A GRCh37
NC_000006.10:g.152485441G>A NCBI36
NG_012855.1:g.519787C>T
NG_008493.2:g.470923G>A
NG_012855.2:g.519787C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000354674.5:c.2751C>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Gly917=
ENST00000367255.10:c.26217C>T (SYNE1) MANE Select ENSP00000356224.5:p.Gly8739=
ENST00000423061.6:c.26073C>T (SYNE1) ENSP00000396024.1:p.Gly8691=
ENST00000672154.1:c.1560C>T (SYNE1)
ENST00000672169.1:c.1935C>T (SYNE1)
ENST00000673173.1:c.1802C>T (SYNE1)
ENST00000673451.1:c.2067C>T (SYNE1) ENSP00000500189.1:n.2067C>T
ENST00000341594.9:c.25002C>T (SYNE1) ENSP00000341887.6:p.Gly8334=
ENST00000347037.9:n.2965C>T (SYNE1)
ENST00000354674.4:c.2751C>T (SYNE1) ENSP00000346701.4:p.Gly917=
ENST00000367251.7:c.4993C>T (SYNE1) ENSP00000356220.3:n.4993C>T
ENST00000367255.9:c.26217C>T (SYNE1) ENSP00000356224.5:p.Gly8739=
ENST00000367256.9:n.9909C>T (SYNE1)
ENST00000367257.8:c.4096C>T (SYNE1) ENSP00000356226.4:n.4096C>T
ENST00000409694.6:n.9801C>T (SYNE1)
ENST00000423061.5:c.26073C>T (SYNE1) ENSP00000396024.1:p.Gly8691=
ENST00000427531.6:c.851-2653G>A (ESR1) ENSP00000394721.2:n.851-2653G>A
ENST00000460912.6:n.2831C>T (SYNE1)
ENST00000478916.5:n.6854C>T (SYNE1)
ENST00000536990.5:n.2995C>T (SYNE1)
ENST00000539504.5:c.2682C>T (SYNE1) ENSP00000441052.1:p.Gly894=
NM_033071.3:c.26073C>T (SYNE1) NP_149062.1:p.Gly8691=
NM_182961.3:c.26217C>T (SYNE1) NP_892006.3:p.Gly8739=
XM_006715407.1:c.26364C>T (SYNE1) XP_006715470.1:p.Gly8788=
XM_006715408.1:c.26352C>T (SYNE1) XP_006715471.1:p.Gly8784=
XM_006715409.1:c.26343C>T (SYNE1) XP_006715472.1:p.Gly8781=
XM_006715410.1:c.26322C>T (SYNE1) XP_006715473.1:p.Gly8774=
XM_006715411.1:c.26313C>T (SYNE1) XP_006715474.1:p.Gly8771=
XM_006715412.1:c.26307C>T (SYNE1) XP_006715475.1:p.Gly8769=
XM_006715413.1:c.26295C>T (SYNE1) XP_006715476.1:p.Gly8765=
XM_006715414.1:c.26292C>T (SYNE1) XP_006715477.1:p.Gly8764=
XM_006715415.1:c.26253C>T (SYNE1) XP_006715478.1:p.Gly8751=
XM_006715416.1:c.26238C>T (SYNE1) XP_006715479.1:p.Gly8746=
XM_006715417.1:c.26223C>T (SYNE1) XP_006715480.1:p.Gly8741=
XM_006715420.1:c.26211C>T (SYNE1) XP_006715483.1:p.Gly8737=
XM_006715421.1:c.26208C>T (SYNE1) XP_006715484.1:p.Gly8736=
XM_006715422.1:c.26205C>T (SYNE1) XP_006715485.1:p.Gly8735=
XM_006715423.1:c.*28C>T (SYNE1) XP_006715486.1:n.*28C>T
XM_006715424.1:c.*28C>T (SYNE1) XP_006715487.1:n.*28C>T
XM_006715425.1:c.*28C>T (SYNE1) XP_006715488.1:n.*28C>T
XM_011535641.1:c.26361C>T (SYNE1) XP_011533943.1:p.Gly8787=
XM_011535642.1:c.26349C>T (SYNE1) XP_011533944.1:p.Gly8783=
XM_011535643.1:c.26199C>T (SYNE1) XP_011533945.1:p.Gly8733=
XM_011535644.1:c.24639C>T (SYNE1) XP_011533946.1:p.Gly8213=
XM_011535645.1:c.24132C>T (SYNE1) XP_011533947.1:p.Gly8044=
XM_011535647.1:c.19599C>T (SYNE1) XP_011533949.1:p.Gly6533=
NM_001328100.1:c.851-2653G>A (ESR1) NP_001315029.1:n.851-2653G>A
NM_001347701.1:c.*28C>T (SYNE1) NP_001334630.1:n.*28C>T
NM_001347702.1:c.2751C>T (SYNE1) NP_001334631.1:p.Gly917=
XM_006715408.2:c.26352C>T (SYNE1) XP_006715471.1:p.Gly8784=
XM_006715410.2:c.26322C>T (SYNE1) XP_006715473.1:p.Gly8774=
XM_006715412.2:c.26307C>T (SYNE1) XP_006715475.1:p.Gly8769=
XM_006715413.2:c.26295C>T (SYNE1) XP_006715476.1:p.Gly8765=
XM_006715415.2:c.26253C>T (SYNE1) XP_006715478.1:p.Gly8751=
XM_006715416.2:c.26238C>T (SYNE1) XP_006715479.1:p.Gly8746=
XM_006715417.2:c.26223C>T (SYNE1) XP_006715480.1:p.Gly8741=
XM_006715420.2:c.26211C>T (SYNE1) XP_006715483.1:p.Gly8737=
XM_006715421.2:c.26208C>T (SYNE1) XP_006715484.1:p.Gly8736=
XM_006715423.2:c.*28C>T (SYNE1) XP_006715486.1:n.*28C>T
XM_006715424.2:c.*28C>T (SYNE1) XP_006715487.1:n.*28C>T
XM_006715425.2:c.*28C>T (SYNE1) XP_006715488.1:n.*28C>T
XM_011535641.2:c.26361C>T (SYNE1) XP_011533943.1:p.Gly8787=
XM_011535642.2:c.26349C>T (SYNE1) XP_011533944.1:p.Gly8783=
XM_011535645.2:c.24132C>T (SYNE1) XP_011533947.1:p.Gly8044=
XM_017010608.1:c.26364C>T (SYNE1) XP_016866097.1:p.Gly8788=
XM_017010609.1:c.26364C>T (SYNE1) XP_016866098.1:p.Gly8788=
XM_017010610.1:c.26343C>T (SYNE1) XP_016866099.1:p.Gly8781=
XM_017010611.2:c.26337C>T (SYNE1) XP_016866100.1:p.Gly8779=
XM_017010612.1:c.26286C>T (SYNE1) XP_016866101.1:p.Gly8762=
XM_017010613.1:c.26250C>T (SYNE1) XP_016866102.1:p.Gly8750=
XM_017010614.1:c.26208C>T (SYNE1) XP_016866103.1:p.Gly8736=
XM_017010615.1:c.26097C>T (SYNE1) XP_016866104.1:p.Gly8699=
XM_017010616.1:c.*28C>T (SYNE1) XP_016866105.1:n.*28C>T
XM_017010617.1:c.*28C>T (SYNE1) XP_016866106.1:n.*28C>T
XM_017010618.1:c.*28C>T (SYNE1) XP_016866107.1:n.*28C>T
XM_017010619.1:c.24639C>T (SYNE1) XP_016866108.1:p.Gly8213=
NM_182961.4:c.26217C>T (SYNE1) MANE Select NP_892006.3:p.Gly8739=
NM_001328100.2:c.851-2653G>A (ESR1) NP_001315029.1:n.851-2653G>A
NM_001347701.2:c.*28C>T (SYNE1) NP_001334630.1:n.*28C>T
NM_001347702.2:c.2751C>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Gly917=
NM_033071.5:c.26073C>T (SYNE1) NP_149062.2:p.Gly8691=