Canonical Allele Identifier: CA366138101

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152690611G>T (hg19) ; chr6:g.152369476G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152369476G>T , CM000668.2:g.152369476G>T	GRCh38
NC_000006.11:g.152690611G>T , CM000668.1:g.152690611G>T	GRCh37
NC_000006.10:g.152732304G>T	NCBI36
NG_012855.1:g.272924C>A
NG_012855.2:g.272924C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454018.7:c.997C>A	ENSP00000390858.4:p.Leu333Ile
ENST00000367255.10:c.9646C>A MANE Select	ENSP00000356224.5:p.Leu3216Ile
ENST00000423061.6:c.9667C>A	ENSP00000396024.1:p.Leu3223Ile
ENST00000341594.9:c.9712C>A	ENSP00000341887.6:p.Leu3238Ile
ENST00000367255.9:c.9646C>A	ENSP00000356224.5:p.Leu3216Ile
ENST00000423061.5:c.9667C>A	ENSP00000396024.1:p.Leu3223Ile
ENST00000454018.6:c.994C>A	ENSP00000390858.3:p.Leu332Ile
ENST00000469439.1:c.239C>A
ENST00000471834.1:n.852C>A
NM_033071.3:c.9667C>A	NP_149062.1:p.Leu3223Ile
NM_182961.3:c.9646C>A	NP_892006.3:p.Leu3216Ile
XM_006715407.1:c.9667C>A	XP_006715470.1:p.Leu3223Ile
XM_006715408.1:c.9667C>A	XP_006715471.1:p.Leu3223Ile
XM_006715409.1:c.9646C>A	XP_006715472.1:p.Leu3216Ile
XM_006715410.1:c.9667C>A	XP_006715473.1:p.Leu3223Ile
XM_006715411.1:c.9616C>A	XP_006715474.1:p.Leu3206Ile
XM_006715412.1:c.9667C>A	XP_006715475.1:p.Leu3223Ile
XM_006715413.1:c.9667C>A	XP_006715476.1:p.Leu3223Ile
XM_006715414.1:c.9595C>A	XP_006715477.1:p.Leu3199Ile
XM_006715415.1:c.9667C>A	XP_006715478.1:p.Leu3223Ile
XM_006715416.1:c.9667C>A	XP_006715479.1:p.Leu3223Ile
XM_006715417.1:c.9667C>A	XP_006715480.1:p.Leu3223Ile
XM_006715420.1:c.9667C>A	XP_006715483.1:p.Leu3223Ile
XM_006715421.1:c.9667C>A	XP_006715484.1:p.Leu3223Ile
XM_006715422.1:c.9508C>A	XP_006715485.1:p.Leu3170Ile
XM_006715423.1:c.9667C>A	XP_006715486.1:p.Leu3223Ile
XM_006715424.1:c.9667C>A	XP_006715487.1:p.Leu3223Ile
XM_006715425.1:c.9667C>A	XP_006715488.1:p.Leu3223Ile
XM_011535641.1:c.9667C>A	XP_011533943.1:p.Leu3223Ile
XM_011535642.1:c.9667C>A	XP_011533944.1:p.Leu3223Ile
XM_011535643.1:c.9502C>A	XP_011533945.1:p.Leu3168Ile
XM_011535644.1:c.7942C>A	XP_011533946.1:p.Leu2648Ile
XM_011535645.1:c.7435C>A	XP_011533947.1:p.Leu2479Ile
XM_011535646.1:c.9667C>A	XP_011533948.1:p.Leu3223Ile
XM_011535647.1:c.2902C>A	XP_011533949.1:p.Leu968Ile
XM_006715408.2:c.9667C>A	XP_006715471.1:p.Leu3223Ile
XM_006715410.2:c.9667C>A	XP_006715473.1:p.Leu3223Ile
XM_006715412.2:c.9667C>A	XP_006715475.1:p.Leu3223Ile
XM_006715413.2:c.9667C>A	XP_006715476.1:p.Leu3223Ile
XM_006715415.2:c.9667C>A	XP_006715478.1:p.Leu3223Ile
XM_006715416.2:c.9667C>A	XP_006715479.1:p.Leu3223Ile
XM_006715417.2:c.9667C>A	XP_006715480.1:p.Leu3223Ile
XM_006715420.2:c.9667C>A	XP_006715483.1:p.Leu3223Ile
XM_006715421.2:c.9667C>A	XP_006715484.1:p.Leu3223Ile
XM_006715423.2:c.9667C>A	XP_006715486.1:p.Leu3223Ile
XM_006715424.2:c.9667C>A	XP_006715487.1:p.Leu3223Ile
XM_006715425.2:c.9667C>A	XP_006715488.1:p.Leu3223Ile
XM_011535641.2:c.9667C>A	XP_011533943.1:p.Leu3223Ile
XM_011535642.2:c.9667C>A	XP_011533944.1:p.Leu3223Ile
XM_011535645.2:c.7435C>A	XP_011533947.1:p.Leu2479Ile
XM_017010608.1:c.9667C>A	XP_016866097.1:p.Leu3223Ile
XM_017010609.1:c.9667C>A	XP_016866098.1:p.Leu3223Ile
XM_017010610.1:c.9646C>A	XP_016866099.1:p.Leu3216Ile
XM_017010611.2:c.9640C>A	XP_016866100.1:p.Leu3214Ile
XM_017010612.1:c.9589C>A	XP_016866101.1:p.Leu3197Ile
XM_017010613.1:c.9667C>A	XP_016866102.1:p.Leu3223Ile
XM_017010614.1:c.9667C>A	XP_016866103.1:p.Leu3223Ile
XM_017010615.1:c.9667C>A	XP_016866104.1:p.Leu3223Ile
XM_017010616.1:c.9667C>A	XP_016866105.1:p.Leu3223Ile
XM_017010617.1:c.9667C>A	XP_016866106.1:p.Leu3223Ile
XM_017010618.1:c.9667C>A	XP_016866107.1:p.Leu3223Ile
XM_017010619.1:c.7942C>A	XP_016866108.1:p.Leu2648Ile
XR_001743287.1:n.10150C>A
NM_182961.4:c.9646C>A MANE Select	NP_892006.3:p.Leu3216Ile
NM_033071.5:c.9667C>A	NP_149062.2:p.Leu3223Ile