Canonical Allele Identifier: CA366150437

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152510223A>T , CM000668.2:g.152510223A>T	GRCh38
NC_000006.11:g.152831358A>T , CM000668.1:g.152831358A>T	GRCh37
NC_000006.10:g.152873051A>T	NCBI36
NG_012855.1:g.132177T>A
NG_012855.2:g.132177T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.551T>A MANE Select	NP_892006.3:p.Leu184Ter
ENST00000367255.10:c.551T>A MANE Select	ENSP00000356224.5:p.Leu184Ter
NM_033071.3:c.572T>A	NP_149062.1:p.Leu191Ter
NM_033071.5:c.572T>A	NP_149062.2:p.Leu191Ter
NM_182961.3:c.551T>A	NP_892006.3:p.Leu184Ter
ENST00000341594.9:c.500T>A	ENSP00000341887.6:p.Leu167Ter
ENST00000367248.7:c.572T>A	ENSP00000356217.3:p.Leu191Ter
ENST00000367253.8:c.551T>A	ENSP00000356222.4:p.Leu184Ter
ENST00000367255.9:c.551T>A	ENSP00000356224.5:p.Leu184Ter
ENST00000413186.6:c.551T>A	ENSP00000414510.2:p.Leu184Ter
ENST00000423061.5:c.572T>A	ENSP00000396024.1:p.Leu191Ter
ENST00000423061.6:c.572T>A	ENSP00000396024.1:p.Leu191Ter
ENST00000461872.6:n.820T>A
ENST00000466159.6:c.551T>A	ENSP00000446021.1:p.Leu184Ter
ENST00000535896.7:c.545T>A	ENSP00000500235.1:p.Leu182Ter
ENST00000537750.5:c.551T>A	ENSP00000441264.1:p.Leu184Ter
ENST00000610489.1:c.521T>A	ENSP00000481873.1:p.Leu174Ter
ENST00000610489.2:c.572T>A	ENSP00000481873.2:p.Leu191Ter
ENST00000672122.1:c.545T>A	ENSP00000500559.1:p.Leu182Ter
ENST00000673163.1:c.*521T>A	ENSP00000499934.1:n.*521T>A
ENST00000673281.1:c.545T>A	ENSP00000500893.1:p.Leu182Ter
XM_006715407.1:c.572T>A	XP_006715470.1:p.Leu191Ter
XM_006715408.1:c.572T>A	XP_006715471.1:p.Leu191Ter
XM_006715408.2:c.572T>A	XP_006715471.1:p.Leu191Ter
XM_006715409.1:c.551T>A	XP_006715472.1:p.Leu184Ter
XM_006715410.1:c.572T>A	XP_006715473.1:p.Leu191Ter
XM_006715410.2:c.572T>A	XP_006715473.1:p.Leu191Ter
XM_006715411.1:c.572T>A	XP_006715474.1:p.Leu191Ter
XM_006715412.1:c.572T>A	XP_006715475.1:p.Leu191Ter
XM_006715412.2:c.572T>A	XP_006715475.1:p.Leu191Ter
XM_006715413.1:c.572T>A	XP_006715476.1:p.Leu191Ter
XM_006715413.2:c.572T>A	XP_006715476.1:p.Leu191Ter
XM_006715414.1:c.551T>A	XP_006715477.1:p.Leu184Ter
XM_006715415.1:c.572T>A	XP_006715478.1:p.Leu191Ter
XM_006715415.2:c.572T>A	XP_006715478.1:p.Leu191Ter
XM_006715416.1:c.572T>A	XP_006715479.1:p.Leu191Ter
XM_006715416.2:c.572T>A	XP_006715479.1:p.Leu191Ter
XM_006715417.1:c.572T>A	XP_006715480.1:p.Leu191Ter
XM_006715417.2:c.572T>A	XP_006715480.1:p.Leu191Ter
XM_006715420.1:c.572T>A	XP_006715483.1:p.Leu191Ter
XM_006715420.2:c.572T>A	XP_006715483.1:p.Leu191Ter
XM_006715421.1:c.572T>A	XP_006715484.1:p.Leu191Ter
XM_006715421.2:c.572T>A	XP_006715484.1:p.Leu191Ter
XM_006715422.1:c.572T>A	XP_006715485.1:p.Leu191Ter
XM_006715423.1:c.572T>A	XP_006715486.1:p.Leu191Ter
XM_006715423.2:c.572T>A	XP_006715486.1:p.Leu191Ter
XM_006715424.1:c.572T>A	XP_006715487.1:p.Leu191Ter
XM_006715424.2:c.572T>A	XP_006715487.1:p.Leu191Ter
XM_006715425.1:c.572T>A	XP_006715488.1:p.Leu191Ter
XM_006715425.2:c.572T>A	XP_006715488.1:p.Leu191Ter
XM_011535641.1:c.572T>A	XP_011533943.1:p.Leu191Ter
XM_011535641.2:c.572T>A	XP_011533943.1:p.Leu191Ter
XM_011535642.1:c.572T>A	XP_011533944.1:p.Leu191Ter
XM_011535642.2:c.572T>A	XP_011533944.1:p.Leu191Ter
XM_011535643.1:c.572T>A	XP_011533945.1:p.Leu191Ter
XM_011535646.1:c.572T>A	XP_011533948.1:p.Leu191Ter
XM_017010608.1:c.572T>A	XP_016866097.1:p.Leu191Ter
XM_017010609.1:c.572T>A	XP_016866098.1:p.Leu191Ter
XM_017010610.1:c.551T>A	XP_016866099.1:p.Leu184Ter
XM_017010611.2:c.545T>A	XP_016866100.1:p.Leu182Ter
XM_017010612.1:c.545T>A	XP_016866101.1:p.Leu182Ter
XM_017010613.1:c.572T>A	XP_016866102.1:p.Leu191Ter
XM_017010614.1:c.572T>A	XP_016866103.1:p.Leu191Ter
XM_017010615.1:c.572T>A	XP_016866104.1:p.Leu191Ter
XM_017010616.1:c.572T>A	XP_016866105.1:p.Leu191Ter
XM_017010617.1:c.572T>A	XP_016866106.1:p.Leu191Ter
XM_017010618.1:c.572T>A	XP_016866107.1:p.Leu191Ter
XR_001743287.1:n.1055T>A