Canonical Allele Identifier: CA452751936
Gene: SYNE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.152557349T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152236214T>G , CM000668.2:g.152236214T>G GRCh38
NC_000006.11:g.152557349T>G , CM000668.1:g.152557349T>G GRCh37
NC_000006.10:g.152599042T>G NCBI36
NG_012855.1:g.406186A>C
NG_012855.2:g.406186A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367255.10:c.20289A>C MANE Select ENSP00000356224.5:p.Ser6763=
ENST00000423061.6:c.20076A>C ENSP00000396024.1:p.Ser6692=
ENST00000341594.9:c.19074A>C ENSP00000341887.6:p.Ser6358=
ENST00000367255.9:c.20289A>C ENSP00000356224.5:p.Ser6763=
ENST00000367256.9:n.3981A>C
ENST00000409694.6:n.3873A>C
ENST00000423061.5:c.20076A>C ENSP00000396024.1:p.Ser6692=
NM_033071.3:c.20076A>C NP_149062.1:p.Ser6692=
NM_182961.3:c.20289A>C NP_892006.3:p.Ser6763=
XM_006715407.1:c.20325A>C XP_006715470.1:p.Ser6775=
XM_006715408.1:c.20313A>C XP_006715471.1:p.Ser6771=
XM_006715409.1:c.20304A>C XP_006715472.1:p.Ser6768=
XM_006715410.1:c.20325A>C XP_006715473.1:p.Ser6775=
XM_006715411.1:c.20274A>C XP_006715474.1:p.Ser6758=
XM_006715412.1:c.20310A>C XP_006715475.1:p.Ser6770=
XM_006715413.1:c.20325A>C XP_006715476.1:p.Ser6775=
XM_006715414.1:c.20253A>C XP_006715477.1:p.Ser6751=
XM_006715415.1:c.20325A>C XP_006715478.1:p.Ser6775=
XM_006715416.1:c.20310A>C XP_006715479.1:p.Ser6770=
XM_006715417.1:c.20184A>C XP_006715480.1:p.Ser6728=
XM_006715420.1:c.20172A>C XP_006715483.1:p.Ser6724=
XM_006715421.1:c.20169A>C XP_006715484.1:p.Ser6723=
XM_006715422.1:c.20166A>C XP_006715485.1:p.Ser6722=
XM_006715423.1:c.20325A>C XP_006715486.1:p.Ser6775=
XM_006715424.1:c.20325A>C XP_006715487.1:p.Ser6775=
XM_006715425.1:c.20325A>C XP_006715488.1:p.Ser6775=
XM_011535641.1:c.20322A>C XP_011533943.1:p.Ser6774=
XM_011535642.1:c.20310A>C XP_011533944.1:p.Ser6770=
XM_011535643.1:c.20160A>C XP_011533945.1:p.Ser6720=
XM_011535644.1:c.18600A>C XP_011533946.1:p.Ser6200=
XM_011535645.1:c.18093A>C XP_011533947.1:p.Ser6031=
XM_011535647.1:c.13560A>C XP_011533949.1:p.Ser4520=
XM_006715408.2:c.20313A>C XP_006715471.1:p.Ser6771=
XM_006715410.2:c.20325A>C XP_006715473.1:p.Ser6775=
XM_006715412.2:c.20310A>C XP_006715475.1:p.Ser6770=
XM_006715413.2:c.20325A>C XP_006715476.1:p.Ser6775=
XM_006715415.2:c.20325A>C XP_006715478.1:p.Ser6775=
XM_006715416.2:c.20310A>C XP_006715479.1:p.Ser6770=
XM_006715417.2:c.20184A>C XP_006715480.1:p.Ser6728=
XM_006715420.2:c.20172A>C XP_006715483.1:p.Ser6724=
XM_006715421.2:c.20169A>C XP_006715484.1:p.Ser6723=
XM_006715423.2:c.20325A>C XP_006715486.1:p.Ser6775=
XM_006715424.2:c.20325A>C XP_006715487.1:p.Ser6775=
XM_006715425.2:c.20325A>C XP_006715488.1:p.Ser6775=
XM_011535641.2:c.20322A>C XP_011533943.1:p.Ser6774=
XM_011535642.2:c.20310A>C XP_011533944.1:p.Ser6770=
XM_011535645.2:c.18093A>C XP_011533947.1:p.Ser6031=
XM_017010608.1:c.20325A>C XP_016866097.1:p.Ser6775=
XM_017010609.1:c.20325A>C XP_016866098.1:p.Ser6775=
XM_017010610.1:c.20304A>C XP_016866099.1:p.Ser6768=
XM_017010611.2:c.20298A>C XP_016866100.1:p.Ser6766=
XM_017010612.1:c.20247A>C XP_016866101.1:p.Ser6749=
XM_017010613.1:c.20322A>C XP_016866102.1:p.Ser6774=
XM_017010614.1:c.20169A>C XP_016866103.1:p.Ser6723=
XM_017010615.1:c.20169A>C XP_016866104.1:p.Ser6723=
XM_017010616.1:c.20325A>C XP_016866105.1:p.Ser6775=
XM_017010617.1:c.20322A>C XP_016866106.1:p.Ser6774=
XM_017010618.1:c.20310A>C XP_016866107.1:p.Ser6770=
XM_017010619.1:c.18600A>C XP_016866108.1:p.Ser6200=
NM_182961.4:c.20289A>C MANE Select NP_892006.3:p.Ser6763=
NM_033071.5:c.20076A>C NP_149062.2:p.Ser6692=