Canonical Allele Identifier: CA366138219

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152369493-C-G
• MyVariant Identifiers: chr6:g.152690628C>G (hg19) ; chr6:g.152369493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152369493C>G , CM000668.2:g.152369493C>G	GRCh38
NC_000006.11:g.152690628C>G , CM000668.1:g.152690628C>G	GRCh37
NC_000006.10:g.152732321C>G	NCBI36
NG_012855.1:g.272907G>C
NG_012855.2:g.272907G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454018.7:c.980G>C	ENSP00000390858.4:p.Arg327Thr
ENST00000367255.10:c.9629G>C MANE Select	ENSP00000356224.5:p.Arg3210Thr
ENST00000423061.6:c.9650G>C	ENSP00000396024.1:p.Arg3217Thr
ENST00000341594.9:c.9695G>C	ENSP00000341887.6:p.Arg3232Thr
ENST00000367255.9:c.9629G>C	ENSP00000356224.5:p.Arg3210Thr
ENST00000423061.5:c.9650G>C	ENSP00000396024.1:p.Arg3217Thr
ENST00000454018.6:c.977G>C	ENSP00000390858.3:p.Arg326Thr
ENST00000469439.1:c.222G>C
ENST00000471834.1:n.835G>C
NM_033071.3:c.9650G>C	NP_149062.1:p.Arg3217Thr
NM_182961.3:c.9629G>C	NP_892006.3:p.Arg3210Thr
XM_006715407.1:c.9650G>C	XP_006715470.1:p.Arg3217Thr
XM_006715408.1:c.9650G>C	XP_006715471.1:p.Arg3217Thr
XM_006715409.1:c.9629G>C	XP_006715472.1:p.Arg3210Thr
XM_006715410.1:c.9650G>C	XP_006715473.1:p.Arg3217Thr
XM_006715411.1:c.9599G>C	XP_006715474.1:p.Arg3200Thr
XM_006715412.1:c.9650G>C	XP_006715475.1:p.Arg3217Thr
XM_006715413.1:c.9650G>C	XP_006715476.1:p.Arg3217Thr
XM_006715414.1:c.9578G>C	XP_006715477.1:p.Arg3193Thr
XM_006715415.1:c.9650G>C	XP_006715478.1:p.Arg3217Thr
XM_006715416.1:c.9650G>C	XP_006715479.1:p.Arg3217Thr
XM_006715417.1:c.9650G>C	XP_006715480.1:p.Arg3217Thr
XM_006715420.1:c.9650G>C	XP_006715483.1:p.Arg3217Thr
XM_006715421.1:c.9650G>C	XP_006715484.1:p.Arg3217Thr
XM_006715422.1:c.9491G>C	XP_006715485.1:p.Arg3164Thr
XM_006715423.1:c.9650G>C	XP_006715486.1:p.Arg3217Thr
XM_006715424.1:c.9650G>C	XP_006715487.1:p.Arg3217Thr
XM_006715425.1:c.9650G>C	XP_006715488.1:p.Arg3217Thr
XM_011535641.1:c.9650G>C	XP_011533943.1:p.Arg3217Thr
XM_011535642.1:c.9650G>C	XP_011533944.1:p.Arg3217Thr
XM_011535643.1:c.9485G>C	XP_011533945.1:p.Arg3162Thr
XM_011535644.1:c.7925G>C	XP_011533946.1:p.Arg2642Thr
XM_011535645.1:c.7418G>C	XP_011533947.1:p.Arg2473Thr
XM_011535646.1:c.9650G>C	XP_011533948.1:p.Arg3217Thr
XM_011535647.1:c.2885G>C	XP_011533949.1:p.Arg962Thr
XM_006715408.2:c.9650G>C	XP_006715471.1:p.Arg3217Thr
XM_006715410.2:c.9650G>C	XP_006715473.1:p.Arg3217Thr
XM_006715412.2:c.9650G>C	XP_006715475.1:p.Arg3217Thr
XM_006715413.2:c.9650G>C	XP_006715476.1:p.Arg3217Thr
XM_006715415.2:c.9650G>C	XP_006715478.1:p.Arg3217Thr
XM_006715416.2:c.9650G>C	XP_006715479.1:p.Arg3217Thr
XM_006715417.2:c.9650G>C	XP_006715480.1:p.Arg3217Thr
XM_006715420.2:c.9650G>C	XP_006715483.1:p.Arg3217Thr
XM_006715421.2:c.9650G>C	XP_006715484.1:p.Arg3217Thr
XM_006715423.2:c.9650G>C	XP_006715486.1:p.Arg3217Thr
XM_006715424.2:c.9650G>C	XP_006715487.1:p.Arg3217Thr
XM_006715425.2:c.9650G>C	XP_006715488.1:p.Arg3217Thr
XM_011535641.2:c.9650G>C	XP_011533943.1:p.Arg3217Thr
XM_011535642.2:c.9650G>C	XP_011533944.1:p.Arg3217Thr
XM_011535645.2:c.7418G>C	XP_011533947.1:p.Arg2473Thr
XM_017010608.1:c.9650G>C	XP_016866097.1:p.Arg3217Thr
XM_017010609.1:c.9650G>C	XP_016866098.1:p.Arg3217Thr
XM_017010610.1:c.9629G>C	XP_016866099.1:p.Arg3210Thr
XM_017010611.2:c.9623G>C	XP_016866100.1:p.Arg3208Thr
XM_017010612.1:c.9572G>C	XP_016866101.1:p.Arg3191Thr
XM_017010613.1:c.9650G>C	XP_016866102.1:p.Arg3217Thr
XM_017010614.1:c.9650G>C	XP_016866103.1:p.Arg3217Thr
XM_017010615.1:c.9650G>C	XP_016866104.1:p.Arg3217Thr
XM_017010616.1:c.9650G>C	XP_016866105.1:p.Arg3217Thr
XM_017010617.1:c.9650G>C	XP_016866106.1:p.Arg3217Thr
XM_017010618.1:c.9650G>C	XP_016866107.1:p.Arg3217Thr
XM_017010619.1:c.7925G>C	XP_016866108.1:p.Arg2642Thr
XR_001743287.1:n.10133G>C
NM_182961.4:c.9629G>C MANE Select	NP_892006.3:p.Arg3210Thr
NM_033071.5:c.9650G>C	NP_149062.2:p.Arg3217Thr