Canonical Allele Identifier: CA366079941

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461092T>A (hg19) ; chr6:g.152139957T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152139957T>A , CM000668.2:g.152139957T>A	GRCh38
NC_000006.11:g.152461092T>A , CM000668.1:g.152461092T>A	GRCh37
NC_000006.10:g.152502785T>A	NCBI36
NG_012855.1:g.502443A>T
NG_012855.2:g.502443A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1985A>T MANE Plus Clinical	ENSP00000346701.4:p.Lys662Met
ENST00000367255.10:c.25451A>T MANE Select	ENSP00000356224.5:p.Lys8484Met
ENST00000423061.6:c.25307A>T	ENSP00000396024.1:p.Lys8436Met
ENST00000672154.1:c.853A>T
ENST00000672169.1:c.1186A>T
ENST00000673173.1:c.1095A>T
ENST00000673451.1:c.1223A>T	ENSP00000500189.1:p.Lys408Met
ENST00000341594.9:c.24236A>T	ENSP00000341887.6:p.Lys8079Met
ENST00000347037.9:n.2199A>T
ENST00000354674.4:c.1985A>T	ENSP00000346701.4:p.Lys662Met
ENST00000367251.7:c.4286A>T	ENSP00000356220.3:p.Lys1429Met
ENST00000367255.9:c.25451A>T	ENSP00000356224.5:p.Lys8484Met
ENST00000367256.9:n.9143A>T
ENST00000367257.8:c.3389A>T	ENSP00000356226.4:p.Lys1130Met
ENST00000409694.6:n.9035A>T
ENST00000423061.5:c.25307A>T	ENSP00000396024.1:p.Lys8436Met
ENST00000460912.6:n.2065A>T
ENST00000478916.5:n.4473A>T
ENST00000536990.5:n.2288A>T
ENST00000539504.5:c.1916A>T	ENSP00000441052.1:p.Lys639Met
NM_033071.3:c.25307A>T	NP_149062.1:p.Lys8436Met
NM_182961.3:c.25451A>T	NP_892006.3:p.Lys8484Met
XM_006715407.1:c.25556A>T	XP_006715470.1:p.Lys8519Met
XM_006715408.1:c.25544A>T	XP_006715471.1:p.Lys8515Met
XM_006715409.1:c.25535A>T	XP_006715472.1:p.Lys8512Met
XM_006715410.1:c.25556A>T	XP_006715473.1:p.Lys8519Met
XM_006715411.1:c.25505A>T	XP_006715474.1:p.Lys8502Met
XM_006715412.1:c.25541A>T	XP_006715475.1:p.Lys8514Met
XM_006715413.1:c.25487A>T	XP_006715476.1:p.Lys8496Met
XM_006715414.1:c.25484A>T	XP_006715477.1:p.Lys8495Met
XM_006715415.1:c.25487A>T	XP_006715478.1:p.Lys8496Met
XM_006715416.1:c.25472A>T	XP_006715479.1:p.Lys8491Met
XM_006715417.1:c.25415A>T	XP_006715480.1:p.Lys8472Met
XM_006715420.1:c.25403A>T	XP_006715483.1:p.Lys8468Met
XM_006715421.1:c.25400A>T	XP_006715484.1:p.Lys8467Met
XM_006715422.1:c.25397A>T	XP_006715485.1:p.Lys8466Met
XM_006715423.1:c.25556A>T	XP_006715486.1:p.Lys8519Met
XM_006715424.1:c.25556A>T	XP_006715487.1:p.Lys8519Met
XM_006715425.1:c.25487A>T	XP_006715488.1:p.Lys8496Met
XM_011535641.1:c.25553A>T	XP_011533943.1:p.Lys8518Met
XM_011535642.1:c.25541A>T	XP_011533944.1:p.Lys8514Met
XM_011535643.1:c.25391A>T	XP_011533945.1:p.Lys8464Met
XM_011535644.1:c.23831A>T	XP_011533946.1:p.Lys7944Met
XM_011535645.1:c.23324A>T	XP_011533947.1:p.Lys7775Met
XM_011535647.1:c.18791A>T	XP_011533949.1:p.Lys6264Met
NM_001347701.1:c.2057A>T	NP_001334630.1:p.Lys686Met
NM_001347702.1:c.1985A>T	NP_001334631.1:p.Lys662Met
XM_006715408.2:c.25544A>T	XP_006715471.1:p.Lys8515Met
XM_006715410.2:c.25556A>T	XP_006715473.1:p.Lys8519Met
XM_006715412.2:c.25541A>T	XP_006715475.1:p.Lys8514Met
XM_006715413.2:c.25487A>T	XP_006715476.1:p.Lys8496Met
XM_006715415.2:c.25487A>T	XP_006715478.1:p.Lys8496Met
XM_006715416.2:c.25472A>T	XP_006715479.1:p.Lys8491Met
XM_006715417.2:c.25415A>T	XP_006715480.1:p.Lys8472Met
XM_006715420.2:c.25403A>T	XP_006715483.1:p.Lys8468Met
XM_006715421.2:c.25400A>T	XP_006715484.1:p.Lys8467Met
XM_006715423.2:c.25556A>T	XP_006715486.1:p.Lys8519Met
XM_006715424.2:c.25556A>T	XP_006715487.1:p.Lys8519Met
XM_006715425.2:c.25487A>T	XP_006715488.1:p.Lys8496Met
XM_011535641.2:c.25553A>T	XP_011533943.1:p.Lys8518Met
XM_011535642.2:c.25541A>T	XP_011533944.1:p.Lys8514Met
XM_011535645.2:c.23324A>T	XP_011533947.1:p.Lys7775Met
XM_017010608.1:c.25556A>T	XP_016866097.1:p.Lys8519Met
XM_017010609.1:c.25556A>T	XP_016866098.1:p.Lys8519Met
XM_017010610.1:c.25535A>T	XP_016866099.1:p.Lys8512Met
XM_017010611.2:c.25529A>T	XP_016866100.1:p.Lys8510Met
XM_017010612.1:c.25478A>T	XP_016866101.1:p.Lys8493Met
XM_017010613.1:c.25484A>T	XP_016866102.1:p.Lys8495Met
XM_017010614.1:c.25400A>T	XP_016866103.1:p.Lys8467Met
XM_017010615.1:c.25331A>T	XP_016866104.1:p.Lys8444Met
XM_017010616.1:c.25487A>T	XP_016866105.1:p.Lys8496Met
XM_017010617.1:c.25484A>T	XP_016866106.1:p.Lys8495Met
XM_017010618.1:c.25472A>T	XP_016866107.1:p.Lys8491Met
XM_017010619.1:c.23831A>T	XP_016866108.1:p.Lys7944Met
NM_182961.4:c.25451A>T MANE Select	NP_892006.3:p.Lys8484Met
NM_001347701.2:c.2057A>T	NP_001334630.1:p.Lys686Met
NM_001347702.2:c.1985A>T MANE Plus Clinical	NP_001334631.1:p.Lys662Met
NM_033071.5:c.25307A>T	NP_149062.2:p.Lys8436Met