Canonical Allele Identifier: CA452969682

Linked Data

MyVariant Identifiers: chr6:g.152443682A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122547A>G , CM000668.2:g.152122547A>G GRCh38
NC_000006.11:g.152443682A>G , CM000668.1:g.152443682A>G GRCh37
NC_000006.10:g.152485375A>G NCBI36
NG_012855.1:g.519853T>C
NG_008493.2:g.470857A>G
NG_012855.2:g.519853T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2817T>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Leu939=
ENST00000367255.10:c.26283T>C (SYNE1) MANE Select ENSP00000356224.5:p.Leu8761=
ENST00000423061.6:c.26139T>C (SYNE1) ENSP00000396024.1:p.Leu8713=
ENST00000672154.1:c.1626T>C (SYNE1)
ENST00000672169.1:c.2001T>C (SYNE1)
ENST00000673173.1:c.1868T>C (SYNE1)
ENST00000673451.1:c.2133T>C (SYNE1) ENSP00000500189.1:n.2133T>C
ENST00000341594.9:c.25068T>C (SYNE1) ENSP00000341887.6:p.Leu8356=
ENST00000347037.9:n.3031T>C (SYNE1)
ENST00000354674.4:c.2817T>C (SYNE1) ENSP00000346701.4:p.Leu939=
ENST00000367251.7:c.5059T>C (SYNE1) ENSP00000356220.3:n.5059T>C
ENST00000367255.9:c.26283T>C (SYNE1) ENSP00000356224.5:p.Leu8761=
ENST00000367256.9:n.9975T>C (SYNE1)
ENST00000367257.8:c.4162T>C (SYNE1) ENSP00000356226.4:n.4162T>C
ENST00000409694.6:n.9867T>C (SYNE1)
ENST00000423061.5:c.26139T>C (SYNE1) ENSP00000396024.1:p.Leu8713=
ENST00000427531.6:c.851-2719A>G (ESR1) ENSP00000394721.2:n.851-2719A>G
ENST00000460912.6:n.2897T>C (SYNE1)
ENST00000478916.5:n.6920T>C (SYNE1)
ENST00000539504.5:c.2748T>C (SYNE1) ENSP00000441052.1:p.Leu916=
NM_033071.3:c.26139T>C (SYNE1) NP_149062.1:p.Leu8713=
NM_182961.3:c.26283T>C (SYNE1) NP_892006.3:p.Leu8761=
XM_006715407.1:c.26430T>C (SYNE1) XP_006715470.1:p.Leu8810=
XM_006715408.1:c.26418T>C (SYNE1) XP_006715471.1:p.Leu8806=
XM_006715409.1:c.26409T>C (SYNE1) XP_006715472.1:p.Leu8803=
XM_006715410.1:c.26388T>C (SYNE1) XP_006715473.1:p.Leu8796=
XM_006715411.1:c.26379T>C (SYNE1) XP_006715474.1:p.Leu8793=
XM_006715412.1:c.26373T>C (SYNE1) XP_006715475.1:p.Leu8791=
XM_006715413.1:c.26361T>C (SYNE1) XP_006715476.1:p.Leu8787=
XM_006715414.1:c.26358T>C (SYNE1) XP_006715477.1:p.Leu8786=
XM_006715415.1:c.26319T>C (SYNE1) XP_006715478.1:p.Leu8773=
XM_006715416.1:c.26304T>C (SYNE1) XP_006715479.1:p.Leu8768=
XM_006715417.1:c.26289T>C (SYNE1) XP_006715480.1:p.Leu8763=
XM_006715420.1:c.26277T>C (SYNE1) XP_006715483.1:p.Leu8759=
XM_006715421.1:c.26274T>C (SYNE1) XP_006715484.1:p.Leu8758=
XM_006715422.1:c.26271T>C (SYNE1) XP_006715485.1:p.Leu8757=
XM_006715423.1:c.*94T>C (SYNE1) XP_006715486.1:n.*94T>C
XM_006715424.1:c.*94T>C (SYNE1) XP_006715487.1:n.*94T>C
XM_006715425.1:c.*94T>C (SYNE1) XP_006715488.1:n.*94T>C
XM_011535641.1:c.26427T>C (SYNE1) XP_011533943.1:p.Leu8809=
XM_011535642.1:c.26415T>C (SYNE1) XP_011533944.1:p.Leu8805=
XM_011535643.1:c.26265T>C (SYNE1) XP_011533945.1:p.Leu8755=
XM_011535644.1:c.24705T>C (SYNE1) XP_011533946.1:p.Leu8235=
XM_011535645.1:c.24198T>C (SYNE1) XP_011533947.1:p.Leu8066=
XM_011535647.1:c.19665T>C (SYNE1) XP_011533949.1:p.Leu6555=
NM_001328100.1:c.851-2719A>G (ESR1) NP_001315029.1:n.851-2719A>G
NM_001347701.1:c.*94T>C (SYNE1) NP_001334630.1:n.*94T>C
NM_001347702.1:c.2817T>C (SYNE1) NP_001334631.1:p.Leu939=
XM_006715408.2:c.26418T>C (SYNE1) XP_006715471.1:p.Leu8806=
XM_006715410.2:c.26388T>C (SYNE1) XP_006715473.1:p.Leu8796=
XM_006715412.2:c.26373T>C (SYNE1) XP_006715475.1:p.Leu8791=
XM_006715413.2:c.26361T>C (SYNE1) XP_006715476.1:p.Leu8787=
XM_006715415.2:c.26319T>C (SYNE1) XP_006715478.1:p.Leu8773=
XM_006715416.2:c.26304T>C (SYNE1) XP_006715479.1:p.Leu8768=
XM_006715417.2:c.26289T>C (SYNE1) XP_006715480.1:p.Leu8763=
XM_006715420.2:c.26277T>C (SYNE1) XP_006715483.1:p.Leu8759=
XM_006715421.2:c.26274T>C (SYNE1) XP_006715484.1:p.Leu8758=
XM_006715423.2:c.*94T>C (SYNE1) XP_006715486.1:n.*94T>C
XM_006715424.2:c.*94T>C (SYNE1) XP_006715487.1:n.*94T>C
XM_006715425.2:c.*94T>C (SYNE1) XP_006715488.1:n.*94T>C
XM_011535641.2:c.26427T>C (SYNE1) XP_011533943.1:p.Leu8809=
XM_011535642.2:c.26415T>C (SYNE1) XP_011533944.1:p.Leu8805=
XM_011535645.2:c.24198T>C (SYNE1) XP_011533947.1:p.Leu8066=
XM_017010608.1:c.26430T>C (SYNE1) XP_016866097.1:p.Leu8810=
XM_017010609.1:c.26430T>C (SYNE1) XP_016866098.1:p.Leu8810=
XM_017010610.1:c.26409T>C (SYNE1) XP_016866099.1:p.Leu8803=
XM_017010611.2:c.26403T>C (SYNE1) XP_016866100.1:p.Leu8801=
XM_017010612.1:c.26352T>C (SYNE1) XP_016866101.1:p.Leu8784=
XM_017010613.1:c.26316T>C (SYNE1) XP_016866102.1:p.Leu8772=
XM_017010614.1:c.26274T>C (SYNE1) XP_016866103.1:p.Leu8758=
XM_017010615.1:c.26163T>C (SYNE1) XP_016866104.1:p.Leu8721=
XM_017010616.1:c.*94T>C (SYNE1) XP_016866105.1:n.*94T>C
XM_017010617.1:c.*94T>C (SYNE1) XP_016866106.1:n.*94T>C
XM_017010618.1:c.*94T>C (SYNE1) XP_016866107.1:n.*94T>C
XM_017010619.1:c.24705T>C (SYNE1) XP_016866108.1:p.Leu8235=
NM_182961.4:c.26283T>C (SYNE1) MANE Select NP_892006.3:p.Leu8761=
NM_001328100.2:c.851-2719A>G (ESR1) NP_001315029.1:n.851-2719A>G
NM_001347701.2:c.*94T>C (SYNE1) NP_001334630.1:n.*94T>C
NM_001347702.2:c.2817T>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Leu939=
NM_033071.5:c.26139T>C (SYNE1) NP_149062.2:p.Leu8713=