Canonical Allele Identifier: CA366099373

Gene: SYNE1

Linked Data

• dbSNP Id: rs2077992751
• gnomAD v3: 6-152213704-A-G
• gnomAD v4: 6-152213704-A-G
• MyVariant Identifiers: chr6:g.152534839A>G (hg19) ; chr6:g.152213704A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213704A>G , CM000668.2:g.152213704A>G	GRCh38
NC_000006.11:g.152534839A>G , CM000668.1:g.152534839A>G	GRCh37
NC_000006.10:g.152576532A>G	NCBI36
NG_012855.1:g.428696T>C
NG_012855.2:g.428696T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22402T>C MANE Select	ENSP00000356224.5:p.Trp7468Arg
ENST00000423061.6:c.22189T>C	ENSP00000396024.1:p.Trp7397Arg
ENST00000341594.9:c.21187T>C	ENSP00000341887.6:p.Trp7063Arg
ENST00000367251.7:c.1168T>C	ENSP00000356220.3:p.Trp390Arg
ENST00000367255.9:c.22402T>C	ENSP00000356224.5:p.Trp7468Arg
ENST00000367256.9:n.6094T>C
ENST00000367257.8:c.340T>C	ENSP00000356226.4:p.Trp114Arg
ENST00000409694.6:n.5986T>C
ENST00000423061.5:c.22189T>C	ENSP00000396024.1:p.Trp7397Arg
NM_033071.3:c.22189T>C	NP_149062.1:p.Trp7397Arg
NM_182961.3:c.22402T>C	NP_892006.3:p.Trp7468Arg
XM_006715407.1:c.22438T>C	XP_006715470.1:p.Trp7480Arg
XM_006715408.1:c.22426T>C	XP_006715471.1:p.Trp7476Arg
XM_006715409.1:c.22417T>C	XP_006715472.1:p.Trp7473Arg
XM_006715410.1:c.22438T>C	XP_006715473.1:p.Trp7480Arg
XM_006715411.1:c.22387T>C	XP_006715474.1:p.Trp7463Arg
XM_006715412.1:c.22423T>C	XP_006715475.1:p.Trp7475Arg
XM_006715413.1:c.22438T>C	XP_006715476.1:p.Trp7480Arg
XM_006715414.1:c.22366T>C	XP_006715477.1:p.Trp7456Arg
XM_006715415.1:c.22438T>C	XP_006715478.1:p.Trp7480Arg
XM_006715416.1:c.22423T>C	XP_006715479.1:p.Trp7475Arg
XM_006715417.1:c.22297T>C	XP_006715480.1:p.Trp7433Arg
XM_006715420.1:c.22285T>C	XP_006715483.1:p.Trp7429Arg
XM_006715421.1:c.22282T>C	XP_006715484.1:p.Trp7428Arg
XM_006715422.1:c.22279T>C	XP_006715485.1:p.Trp7427Arg
XM_006715423.1:c.22438T>C	XP_006715486.1:p.Trp7480Arg
XM_006715424.1:c.22438T>C	XP_006715487.1:p.Trp7480Arg
XM_006715425.1:c.22438T>C	XP_006715488.1:p.Trp7480Arg
XM_011535641.1:c.22435T>C	XP_011533943.1:p.Trp7479Arg
XM_011535642.1:c.22423T>C	XP_011533944.1:p.Trp7475Arg
XM_011535643.1:c.22273T>C	XP_011533945.1:p.Trp7425Arg
XM_011535644.1:c.20713T>C	XP_011533946.1:p.Trp6905Arg
XM_011535645.1:c.20206T>C	XP_011533947.1:p.Trp6736Arg
XM_011535647.1:c.15673T>C	XP_011533949.1:p.Trp5225Arg
XM_006715408.2:c.22426T>C	XP_006715471.1:p.Trp7476Arg
XM_006715410.2:c.22438T>C	XP_006715473.1:p.Trp7480Arg
XM_006715412.2:c.22423T>C	XP_006715475.1:p.Trp7475Arg
XM_006715413.2:c.22438T>C	XP_006715476.1:p.Trp7480Arg
XM_006715415.2:c.22438T>C	XP_006715478.1:p.Trp7480Arg
XM_006715416.2:c.22423T>C	XP_006715479.1:p.Trp7475Arg
XM_006715417.2:c.22297T>C	XP_006715480.1:p.Trp7433Arg
XM_006715420.2:c.22285T>C	XP_006715483.1:p.Trp7429Arg
XM_006715421.2:c.22282T>C	XP_006715484.1:p.Trp7428Arg
XM_006715423.2:c.22438T>C	XP_006715486.1:p.Trp7480Arg
XM_006715424.2:c.22438T>C	XP_006715487.1:p.Trp7480Arg
XM_006715425.2:c.22438T>C	XP_006715488.1:p.Trp7480Arg
XM_011535641.2:c.22435T>C	XP_011533943.1:p.Trp7479Arg
XM_011535642.2:c.22423T>C	XP_011533944.1:p.Trp7475Arg
XM_011535645.2:c.20206T>C	XP_011533947.1:p.Trp6736Arg
XM_017010608.1:c.22438T>C	XP_016866097.1:p.Trp7480Arg
XM_017010609.1:c.22438T>C	XP_016866098.1:p.Trp7480Arg
XM_017010610.1:c.22417T>C	XP_016866099.1:p.Trp7473Arg
XM_017010611.2:c.22411T>C	XP_016866100.1:p.Trp7471Arg
XM_017010612.1:c.22360T>C	XP_016866101.1:p.Trp7454Arg
XM_017010613.1:c.22435T>C	XP_016866102.1:p.Trp7479Arg
XM_017010614.1:c.22282T>C	XP_016866103.1:p.Trp7428Arg
XM_017010615.1:c.22282T>C	XP_016866104.1:p.Trp7428Arg
XM_017010616.1:c.22438T>C	XP_016866105.1:p.Trp7480Arg
XM_017010617.1:c.22435T>C	XP_016866106.1:p.Trp7479Arg
XM_017010618.1:c.22423T>C	XP_016866107.1:p.Trp7475Arg
XM_017010619.1:c.20713T>C	XP_016866108.1:p.Trp6905Arg
NM_182961.4:c.22402T>C MANE Select	NP_892006.3:p.Trp7468Arg
NM_033071.5:c.22189T>C	NP_149062.2:p.Trp7397Arg