Canonical Allele Identifier: CA366082137

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152462398C>A (hg19) ; chr6:g.152141263C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141263C>A , CM000668.2:g.152141263C>A	GRCh38
NC_000006.11:g.152462398C>A , CM000668.1:g.152462398C>A	GRCh37
NC_000006.10:g.152504091C>A	NCBI36
NG_012855.1:g.501137G>T
NG_012855.2:g.501137G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1720G>T MANE Plus Clinical	ENSP00000346701.4:p.Glu574Ter
ENST00000367255.10:c.25186G>T MANE Select	ENSP00000356224.5:p.Glu8396Ter
ENST00000423061.6:c.25042G>T	ENSP00000396024.1:p.Glu8348Ter
ENST00000672154.1:c.588G>T
ENST00000672169.1:c.921G>T
ENST00000673173.1:c.891-1102G>T
ENST00000673451.1:c.958G>T	ENSP00000500189.1:p.Glu320Ter
ENST00000341594.9:c.23971G>T	ENSP00000341887.6:p.Glu7991Ter
ENST00000347037.9:n.1934G>T
ENST00000354674.4:c.1720G>T	ENSP00000346701.4:p.Glu574Ter
ENST00000367251.7:c.4021G>T	ENSP00000356220.3:p.Glu1341Ter
ENST00000367255.9:c.25186G>T	ENSP00000356224.5:p.Glu8396Ter
ENST00000367256.9:n.8878G>T
ENST00000367257.8:c.3124G>T	ENSP00000356226.4:p.Glu1042Ter
ENST00000409694.6:n.8770G>T
ENST00000423061.5:c.25042G>T	ENSP00000396024.1:p.Glu8348Ter
ENST00000460912.6:n.1800G>T
ENST00000478916.5:n.4208G>T
ENST00000536990.5:n.2023G>T
ENST00000539504.5:c.1651G>T	ENSP00000441052.1:p.Glu551Ter
NM_033071.3:c.25042G>T	NP_149062.1:p.Glu8348Ter
NM_182961.3:c.25186G>T	NP_892006.3:p.Glu8396Ter
XM_006715407.1:c.25291G>T	XP_006715470.1:p.Glu8431Ter
XM_006715408.1:c.25279G>T	XP_006715471.1:p.Glu8427Ter
XM_006715409.1:c.25270G>T	XP_006715472.1:p.Glu8424Ter
XM_006715410.1:c.25291G>T	XP_006715473.1:p.Glu8431Ter
XM_006715411.1:c.25240G>T	XP_006715474.1:p.Glu8414Ter
XM_006715412.1:c.25276G>T	XP_006715475.1:p.Glu8426Ter
XM_006715413.1:c.25222G>T	XP_006715476.1:p.Glu8408Ter
XM_006715414.1:c.25219G>T	XP_006715477.1:p.Glu8407Ter
XM_006715415.1:c.25222G>T	XP_006715478.1:p.Glu8408Ter
XM_006715416.1:c.25207G>T	XP_006715479.1:p.Glu8403Ter
XM_006715417.1:c.25150G>T	XP_006715480.1:p.Glu8384Ter
XM_006715420.1:c.25138G>T	XP_006715483.1:p.Glu8380Ter
XM_006715421.1:c.25135G>T	XP_006715484.1:p.Glu8379Ter
XM_006715422.1:c.25132G>T	XP_006715485.1:p.Glu8378Ter
XM_006715423.1:c.25291G>T	XP_006715486.1:p.Glu8431Ter
XM_006715424.1:c.25291G>T	XP_006715487.1:p.Glu8431Ter
XM_006715425.1:c.25222G>T	XP_006715488.1:p.Glu8408Ter
XM_011535641.1:c.25288G>T	XP_011533943.1:p.Glu8430Ter
XM_011535642.1:c.25276G>T	XP_011533944.1:p.Glu8426Ter
XM_011535643.1:c.25126G>T	XP_011533945.1:p.Glu8376Ter
XM_011535644.1:c.23566G>T	XP_011533946.1:p.Glu7856Ter
XM_011535645.1:c.23059G>T	XP_011533947.1:p.Glu7687Ter
XM_011535647.1:c.18526G>T	XP_011533949.1:p.Glu6176Ter
NM_001347701.1:c.1792G>T	NP_001334630.1:p.Glu598Ter
NM_001347702.1:c.1720G>T	NP_001334631.1:p.Glu574Ter
XM_006715408.2:c.25279G>T	XP_006715471.1:p.Glu8427Ter
XM_006715410.2:c.25291G>T	XP_006715473.1:p.Glu8431Ter
XM_006715412.2:c.25276G>T	XP_006715475.1:p.Glu8426Ter
XM_006715413.2:c.25222G>T	XP_006715476.1:p.Glu8408Ter
XM_006715415.2:c.25222G>T	XP_006715478.1:p.Glu8408Ter
XM_006715416.2:c.25207G>T	XP_006715479.1:p.Glu8403Ter
XM_006715417.2:c.25150G>T	XP_006715480.1:p.Glu8384Ter
XM_006715420.2:c.25138G>T	XP_006715483.1:p.Glu8380Ter
XM_006715421.2:c.25135G>T	XP_006715484.1:p.Glu8379Ter
XM_006715423.2:c.25291G>T	XP_006715486.1:p.Glu8431Ter
XM_006715424.2:c.25291G>T	XP_006715487.1:p.Glu8431Ter
XM_006715425.2:c.25222G>T	XP_006715488.1:p.Glu8408Ter
XM_011535641.2:c.25288G>T	XP_011533943.1:p.Glu8430Ter
XM_011535642.2:c.25276G>T	XP_011533944.1:p.Glu8426Ter
XM_011535645.2:c.23059G>T	XP_011533947.1:p.Glu7687Ter
XM_017010608.1:c.25291G>T	XP_016866097.1:p.Glu8431Ter
XM_017010609.1:c.25291G>T	XP_016866098.1:p.Glu8431Ter
XM_017010610.1:c.25270G>T	XP_016866099.1:p.Glu8424Ter
XM_017010611.2:c.25264G>T	XP_016866100.1:p.Glu8422Ter
XM_017010612.1:c.25213G>T	XP_016866101.1:p.Glu8405Ter
XM_017010613.1:c.25219G>T	XP_016866102.1:p.Glu8407Ter
XM_017010614.1:c.25135G>T	XP_016866103.1:p.Glu8379Ter
XM_017010615.1:c.25066G>T	XP_016866104.1:p.Glu8356Ter
XM_017010616.1:c.25222G>T	XP_016866105.1:p.Glu8408Ter
XM_017010617.1:c.25219G>T	XP_016866106.1:p.Glu8407Ter
XM_017010618.1:c.25207G>T	XP_016866107.1:p.Glu8403Ter
XM_017010619.1:c.23566G>T	XP_016866108.1:p.Glu7856Ter
NM_182961.4:c.25186G>T MANE Select	NP_892006.3:p.Glu8396Ter
NM_001347701.2:c.1792G>T	NP_001334630.1:p.Glu598Ter
NM_001347702.2:c.1720G>T MANE Plus Clinical	NP_001334631.1:p.Glu574Ter
NM_033071.5:c.25042G>T	NP_149062.2:p.Glu8348Ter