Canonical Allele Identifier: CA366122256

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152557347T>G (hg19) ; chr6:g.152236212T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152236212T>G , CM000668.2:g.152236212T>G	GRCh38
NC_000006.11:g.152557347T>G , CM000668.1:g.152557347T>G	GRCh37
NC_000006.10:g.152599040T>G	NCBI36
NG_012855.1:g.406188A>C
NG_012855.2:g.406188A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367255.10:c.20291A>C MANE Select	ENSP00000356224.5:p.Asp6764Ala
ENST00000423061.6:c.20078A>C	ENSP00000396024.1:p.Asp6693Ala
ENST00000341594.9:c.19076A>C	ENSP00000341887.6:p.Asp6359Ala
ENST00000367255.9:c.20291A>C	ENSP00000356224.5:p.Asp6764Ala
ENST00000367256.9:n.3983A>C
ENST00000409694.6:n.3875A>C
ENST00000423061.5:c.20078A>C	ENSP00000396024.1:p.Asp6693Ala
NM_033071.3:c.20078A>C	NP_149062.1:p.Asp6693Ala
NM_182961.3:c.20291A>C	NP_892006.3:p.Asp6764Ala
XM_006715407.1:c.20327A>C	XP_006715470.1:p.Asp6776Ala
XM_006715408.1:c.20315A>C	XP_006715471.1:p.Asp6772Ala
XM_006715409.1:c.20306A>C	XP_006715472.1:p.Asp6769Ala
XM_006715410.1:c.20327A>C	XP_006715473.1:p.Asp6776Ala
XM_006715411.1:c.20276A>C	XP_006715474.1:p.Asp6759Ala
XM_006715412.1:c.20312A>C	XP_006715475.1:p.Asp6771Ala
XM_006715413.1:c.20327A>C	XP_006715476.1:p.Asp6776Ala
XM_006715414.1:c.20255A>C	XP_006715477.1:p.Asp6752Ala
XM_006715415.1:c.20327A>C	XP_006715478.1:p.Asp6776Ala
XM_006715416.1:c.20312A>C	XP_006715479.1:p.Asp6771Ala
XM_006715417.1:c.20186A>C	XP_006715480.1:p.Asp6729Ala
XM_006715420.1:c.20174A>C	XP_006715483.1:p.Asp6725Ala
XM_006715421.1:c.20171A>C	XP_006715484.1:p.Asp6724Ala
XM_006715422.1:c.20168A>C	XP_006715485.1:p.Asp6723Ala
XM_006715423.1:c.20327A>C	XP_006715486.1:p.Asp6776Ala
XM_006715424.1:c.20327A>C	XP_006715487.1:p.Asp6776Ala
XM_006715425.1:c.20327A>C	XP_006715488.1:p.Asp6776Ala
XM_011535641.1:c.20324A>C	XP_011533943.1:p.Asp6775Ala
XM_011535642.1:c.20312A>C	XP_011533944.1:p.Asp6771Ala
XM_011535643.1:c.20162A>C	XP_011533945.1:p.Asp6721Ala
XM_011535644.1:c.18602A>C	XP_011533946.1:p.Asp6201Ala
XM_011535645.1:c.18095A>C	XP_011533947.1:p.Asp6032Ala
XM_011535647.1:c.13562A>C	XP_011533949.1:p.Asp4521Ala
XM_006715408.2:c.20315A>C	XP_006715471.1:p.Asp6772Ala
XM_006715410.2:c.20327A>C	XP_006715473.1:p.Asp6776Ala
XM_006715412.2:c.20312A>C	XP_006715475.1:p.Asp6771Ala
XM_006715413.2:c.20327A>C	XP_006715476.1:p.Asp6776Ala
XM_006715415.2:c.20327A>C	XP_006715478.1:p.Asp6776Ala
XM_006715416.2:c.20312A>C	XP_006715479.1:p.Asp6771Ala
XM_006715417.2:c.20186A>C	XP_006715480.1:p.Asp6729Ala
XM_006715420.2:c.20174A>C	XP_006715483.1:p.Asp6725Ala
XM_006715421.2:c.20171A>C	XP_006715484.1:p.Asp6724Ala
XM_006715423.2:c.20327A>C	XP_006715486.1:p.Asp6776Ala
XM_006715424.2:c.20327A>C	XP_006715487.1:p.Asp6776Ala
XM_006715425.2:c.20327A>C	XP_006715488.1:p.Asp6776Ala
XM_011535641.2:c.20324A>C	XP_011533943.1:p.Asp6775Ala
XM_011535642.2:c.20312A>C	XP_011533944.1:p.Asp6771Ala
XM_011535645.2:c.18095A>C	XP_011533947.1:p.Asp6032Ala
XM_017010608.1:c.20327A>C	XP_016866097.1:p.Asp6776Ala
XM_017010609.1:c.20327A>C	XP_016866098.1:p.Asp6776Ala
XM_017010610.1:c.20306A>C	XP_016866099.1:p.Asp6769Ala
XM_017010611.2:c.20300A>C	XP_016866100.1:p.Asp6767Ala
XM_017010612.1:c.20249A>C	XP_016866101.1:p.Asp6750Ala
XM_017010613.1:c.20324A>C	XP_016866102.1:p.Asp6775Ala
XM_017010614.1:c.20171A>C	XP_016866103.1:p.Asp6724Ala
XM_017010615.1:c.20171A>C	XP_016866104.1:p.Asp6724Ala
XM_017010616.1:c.20327A>C	XP_016866105.1:p.Asp6776Ala
XM_017010617.1:c.20324A>C	XP_016866106.1:p.Asp6775Ala
XM_017010618.1:c.20312A>C	XP_016866107.1:p.Asp6771Ala
XM_017010619.1:c.18602A>C	XP_016866108.1:p.Asp6201Ala
NM_182961.4:c.20291A>C MANE Select	NP_892006.3:p.Asp6764Ala
NM_033071.5:c.20078A>C	NP_149062.2:p.Asp6693Ala