Canonical Allele Identifier: CA366083271

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464868G>T (hg19) ; chr6:g.152143733G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143733G>T , CM000668.2:g.152143733G>T	GRCh38
NC_000006.11:g.152464868G>T , CM000668.1:g.152464868G>T	GRCh37
NC_000006.10:g.152506561G>T	NCBI36
NG_012855.1:g.498667C>A
NG_012855.2:g.498667C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1543C>A MANE Plus Clinical	ENSP00000346701.4:p.Gln515Lys
ENST00000367255.10:c.25009C>A MANE Select	ENSP00000356224.5:p.Gln8337Lys
ENST00000423061.6:c.24865C>A	ENSP00000396024.1:p.Gln8289Lys
ENST00000672154.1:c.411C>A
ENST00000672169.1:c.744C>A
ENST00000673173.1:c.891-3572C>A
ENST00000673451.1:c.781C>A	ENSP00000500189.1:p.Gln261Lys
ENST00000341594.9:c.23794C>A	ENSP00000341887.6:p.Gln7932Lys
ENST00000347037.9:n.1757C>A
ENST00000354674.4:c.1543C>A	ENSP00000346701.4:p.Gln515Lys
ENST00000367251.7:c.3844C>A	ENSP00000356220.3:p.Gln1282Lys
ENST00000367255.9:c.25009C>A	ENSP00000356224.5:p.Gln8337Lys
ENST00000367256.9:n.8701C>A
ENST00000367257.8:c.2947C>A	ENSP00000356226.4:p.Gln983Lys
ENST00000409694.6:n.8593C>A
ENST00000423061.5:c.24865C>A	ENSP00000396024.1:p.Gln8289Lys
ENST00000460912.6:n.1623C>A
ENST00000478916.5:n.4031C>A
ENST00000536990.5:n.1846C>A
ENST00000539504.5:c.1474C>A	ENSP00000441052.1:p.Gln492Lys
NM_033071.3:c.24865C>A	NP_149062.1:p.Gln8289Lys
NM_182961.3:c.25009C>A	NP_892006.3:p.Gln8337Lys
XM_006715407.1:c.25114C>A	XP_006715470.1:p.Gln8372Lys
XM_006715408.1:c.25102C>A	XP_006715471.1:p.Gln8368Lys
XM_006715409.1:c.25093C>A	XP_006715472.1:p.Gln8365Lys
XM_006715410.1:c.25114C>A	XP_006715473.1:p.Gln8372Lys
XM_006715411.1:c.25063C>A	XP_006715474.1:p.Gln8355Lys
XM_006715412.1:c.25099C>A	XP_006715475.1:p.Gln8367Lys
XM_006715413.1:c.25045C>A	XP_006715476.1:p.Gln8349Lys
XM_006715414.1:c.25042C>A	XP_006715477.1:p.Gln8348Lys
XM_006715415.1:c.25045C>A	XP_006715478.1:p.Gln8349Lys
XM_006715416.1:c.25030C>A	XP_006715479.1:p.Gln8344Lys
XM_006715417.1:c.24973C>A	XP_006715480.1:p.Gln8325Lys
XM_006715420.1:c.24961C>A	XP_006715483.1:p.Gln8321Lys
XM_006715421.1:c.24958C>A	XP_006715484.1:p.Gln8320Lys
XM_006715422.1:c.24955C>A	XP_006715485.1:p.Gln8319Lys
XM_006715423.1:c.25114C>A	XP_006715486.1:p.Gln8372Lys
XM_006715424.1:c.25114C>A	XP_006715487.1:p.Gln8372Lys
XM_006715425.1:c.25045C>A	XP_006715488.1:p.Gln8349Lys
XM_011535641.1:c.25111C>A	XP_011533943.1:p.Gln8371Lys
XM_011535642.1:c.25099C>A	XP_011533944.1:p.Gln8367Lys
XM_011535643.1:c.24949C>A	XP_011533945.1:p.Gln8317Lys
XM_011535644.1:c.23389C>A	XP_011533946.1:p.Gln7797Lys
XM_011535645.1:c.22882C>A	XP_011533947.1:p.Gln7628Lys
XM_011535647.1:c.18349C>A	XP_011533949.1:p.Gln6117Lys
NM_001347701.1:c.1615C>A	NP_001334630.1:p.Gln539Lys
NM_001347702.1:c.1543C>A	NP_001334631.1:p.Gln515Lys
XM_006715408.2:c.25102C>A	XP_006715471.1:p.Gln8368Lys
XM_006715410.2:c.25114C>A	XP_006715473.1:p.Gln8372Lys
XM_006715412.2:c.25099C>A	XP_006715475.1:p.Gln8367Lys
XM_006715413.2:c.25045C>A	XP_006715476.1:p.Gln8349Lys
XM_006715415.2:c.25045C>A	XP_006715478.1:p.Gln8349Lys
XM_006715416.2:c.25030C>A	XP_006715479.1:p.Gln8344Lys
XM_006715417.2:c.24973C>A	XP_006715480.1:p.Gln8325Lys
XM_006715420.2:c.24961C>A	XP_006715483.1:p.Gln8321Lys
XM_006715421.2:c.24958C>A	XP_006715484.1:p.Gln8320Lys
XM_006715423.2:c.25114C>A	XP_006715486.1:p.Gln8372Lys
XM_006715424.2:c.25114C>A	XP_006715487.1:p.Gln8372Lys
XM_006715425.2:c.25045C>A	XP_006715488.1:p.Gln8349Lys
XM_011535641.2:c.25111C>A	XP_011533943.1:p.Gln8371Lys
XM_011535642.2:c.25099C>A	XP_011533944.1:p.Gln8367Lys
XM_011535645.2:c.22882C>A	XP_011533947.1:p.Gln7628Lys
XM_017010608.1:c.25114C>A	XP_016866097.1:p.Gln8372Lys
XM_017010609.1:c.25114C>A	XP_016866098.1:p.Gln8372Lys
XM_017010610.1:c.25093C>A	XP_016866099.1:p.Gln8365Lys
XM_017010611.2:c.25087C>A	XP_016866100.1:p.Gln8363Lys
XM_017010612.1:c.25036C>A	XP_016866101.1:p.Gln8346Lys
XM_017010613.1:c.25042C>A	XP_016866102.1:p.Gln8348Lys
XM_017010614.1:c.24958C>A	XP_016866103.1:p.Gln8320Lys
XM_017010615.1:c.24889C>A	XP_016866104.1:p.Gln8297Lys
XM_017010616.1:c.25045C>A	XP_016866105.1:p.Gln8349Lys
XM_017010617.1:c.25042C>A	XP_016866106.1:p.Gln8348Lys
XM_017010618.1:c.25030C>A	XP_016866107.1:p.Gln8344Lys
XM_017010619.1:c.23389C>A	XP_016866108.1:p.Gln7797Lys
NM_182961.4:c.25009C>A MANE Select	NP_892006.3:p.Gln8337Lys
NM_001347701.2:c.1615C>A	NP_001334630.1:p.Gln539Lys
NM_001347702.2:c.1543C>A MANE Plus Clinical	NP_001334631.1:p.Gln515Lys
NM_033071.5:c.24865C>A	NP_149062.2:p.Gln8289Lys