Canonical Allele Identifier: CA366099364

Gene: SYNE1

Linked Data

• dbSNP Id: rs2153432767
• MyVariant Identifiers: chr6:g.152534837C>T (hg19) ; chr6:g.152213702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213702C>T , CM000668.2:g.152213702C>T	GRCh38
NC_000006.11:g.152534837C>T , CM000668.1:g.152534837C>T	GRCh37
NC_000006.10:g.152576530C>T	NCBI36
NG_012855.1:g.428698G>A
NG_012855.2:g.428698G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22404G>A MANE Select	ENSP00000356224.5:p.Trp7468Ter
ENST00000423061.6:c.22191G>A	ENSP00000396024.1:p.Trp7397Ter
ENST00000341594.9:c.21189G>A	ENSP00000341887.6:p.Trp7063Ter
ENST00000367251.7:c.1170G>A	ENSP00000356220.3:p.Trp390Ter
ENST00000367255.9:c.22404G>A	ENSP00000356224.5:p.Trp7468Ter
ENST00000367256.9:n.6096G>A
ENST00000367257.8:c.342G>A	ENSP00000356226.4:p.Trp114Ter
ENST00000409694.6:n.5988G>A
ENST00000423061.5:c.22191G>A	ENSP00000396024.1:p.Trp7397Ter
NM_033071.3:c.22191G>A	NP_149062.1:p.Trp7397Ter
NM_182961.3:c.22404G>A	NP_892006.3:p.Trp7468Ter
XM_006715407.1:c.22440G>A	XP_006715470.1:p.Trp7480Ter
XM_006715408.1:c.22428G>A	XP_006715471.1:p.Trp7476Ter
XM_006715409.1:c.22419G>A	XP_006715472.1:p.Trp7473Ter
XM_006715410.1:c.22440G>A	XP_006715473.1:p.Trp7480Ter
XM_006715411.1:c.22389G>A	XP_006715474.1:p.Trp7463Ter
XM_006715412.1:c.22425G>A	XP_006715475.1:p.Trp7475Ter
XM_006715413.1:c.22440G>A	XP_006715476.1:p.Trp7480Ter
XM_006715414.1:c.22368G>A	XP_006715477.1:p.Trp7456Ter
XM_006715415.1:c.22440G>A	XP_006715478.1:p.Trp7480Ter
XM_006715416.1:c.22425G>A	XP_006715479.1:p.Trp7475Ter
XM_006715417.1:c.22299G>A	XP_006715480.1:p.Trp7433Ter
XM_006715420.1:c.22287G>A	XP_006715483.1:p.Trp7429Ter
XM_006715421.1:c.22284G>A	XP_006715484.1:p.Trp7428Ter
XM_006715422.1:c.22281G>A	XP_006715485.1:p.Trp7427Ter
XM_006715423.1:c.22440G>A	XP_006715486.1:p.Trp7480Ter
XM_006715424.1:c.22440G>A	XP_006715487.1:p.Trp7480Ter
XM_006715425.1:c.22440G>A	XP_006715488.1:p.Trp7480Ter
XM_011535641.1:c.22437G>A	XP_011533943.1:p.Trp7479Ter
XM_011535642.1:c.22425G>A	XP_011533944.1:p.Trp7475Ter
XM_011535643.1:c.22275G>A	XP_011533945.1:p.Trp7425Ter
XM_011535644.1:c.20715G>A	XP_011533946.1:p.Trp6905Ter
XM_011535645.1:c.20208G>A	XP_011533947.1:p.Trp6736Ter
XM_011535647.1:c.15675G>A	XP_011533949.1:p.Trp5225Ter
XM_006715408.2:c.22428G>A	XP_006715471.1:p.Trp7476Ter
XM_006715410.2:c.22440G>A	XP_006715473.1:p.Trp7480Ter
XM_006715412.2:c.22425G>A	XP_006715475.1:p.Trp7475Ter
XM_006715413.2:c.22440G>A	XP_006715476.1:p.Trp7480Ter
XM_006715415.2:c.22440G>A	XP_006715478.1:p.Trp7480Ter
XM_006715416.2:c.22425G>A	XP_006715479.1:p.Trp7475Ter
XM_006715417.2:c.22299G>A	XP_006715480.1:p.Trp7433Ter
XM_006715420.2:c.22287G>A	XP_006715483.1:p.Trp7429Ter
XM_006715421.2:c.22284G>A	XP_006715484.1:p.Trp7428Ter
XM_006715423.2:c.22440G>A	XP_006715486.1:p.Trp7480Ter
XM_006715424.2:c.22440G>A	XP_006715487.1:p.Trp7480Ter
XM_006715425.2:c.22440G>A	XP_006715488.1:p.Trp7480Ter
XM_011535641.2:c.22437G>A	XP_011533943.1:p.Trp7479Ter
XM_011535642.2:c.22425G>A	XP_011533944.1:p.Trp7475Ter
XM_011535645.2:c.20208G>A	XP_011533947.1:p.Trp6736Ter
XM_017010608.1:c.22440G>A	XP_016866097.1:p.Trp7480Ter
XM_017010609.1:c.22440G>A	XP_016866098.1:p.Trp7480Ter
XM_017010610.1:c.22419G>A	XP_016866099.1:p.Trp7473Ter
XM_017010611.2:c.22413G>A	XP_016866100.1:p.Trp7471Ter
XM_017010612.1:c.22362G>A	XP_016866101.1:p.Trp7454Ter
XM_017010613.1:c.22437G>A	XP_016866102.1:p.Trp7479Ter
XM_017010614.1:c.22284G>A	XP_016866103.1:p.Trp7428Ter
XM_017010615.1:c.22284G>A	XP_016866104.1:p.Trp7428Ter
XM_017010616.1:c.22440G>A	XP_016866105.1:p.Trp7480Ter
XM_017010617.1:c.22437G>A	XP_016866106.1:p.Trp7479Ter
XM_017010618.1:c.22425G>A	XP_016866107.1:p.Trp7475Ter
XM_017010619.1:c.20715G>A	XP_016866108.1:p.Trp6905Ter
NM_182961.4:c.22404G>A MANE Select	NP_892006.3:p.Trp7468Ter
NM_033071.5:c.22191G>A	NP_149062.2:p.Trp7397Ter