Canonical Allele Identifier: CA452748483

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152213717-T-C
• MyVariant Identifiers: chr6:g.152534852T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213717T>C , CM000668.2:g.152213717T>C	GRCh38
NC_000006.11:g.152534852T>C , CM000668.1:g.152534852T>C	GRCh37
NC_000006.10:g.152576545T>C	NCBI36
NG_012855.1:g.428683A>G
NG_012855.2:g.428683A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22389A>G MANE Select	ENSP00000356224.5:p.Glu7463=
ENST00000423061.6:c.22176A>G	ENSP00000396024.1:p.Glu7392=
ENST00000341594.9:c.21174A>G	ENSP00000341887.6:p.Glu7058=
ENST00000367251.7:c.1155A>G	ENSP00000356220.3:p.Glu385=
ENST00000367255.9:c.22389A>G	ENSP00000356224.5:p.Glu7463=
ENST00000367256.9:n.6081A>G
ENST00000367257.8:c.327A>G	ENSP00000356226.4:p.Glu109=
ENST00000409694.6:n.5973A>G
ENST00000423061.5:c.22176A>G	ENSP00000396024.1:p.Glu7392=
NM_033071.3:c.22176A>G	NP_149062.1:p.Glu7392=
NM_182961.3:c.22389A>G	NP_892006.3:p.Glu7463=
XM_006715407.1:c.22425A>G	XP_006715470.1:p.Glu7475=
XM_006715408.1:c.22413A>G	XP_006715471.1:p.Glu7471=
XM_006715409.1:c.22404A>G	XP_006715472.1:p.Glu7468=
XM_006715410.1:c.22425A>G	XP_006715473.1:p.Glu7475=
XM_006715411.1:c.22374A>G	XP_006715474.1:p.Glu7458=
XM_006715412.1:c.22410A>G	XP_006715475.1:p.Glu7470=
XM_006715413.1:c.22425A>G	XP_006715476.1:p.Glu7475=
XM_006715414.1:c.22353A>G	XP_006715477.1:p.Glu7451=
XM_006715415.1:c.22425A>G	XP_006715478.1:p.Glu7475=
XM_006715416.1:c.22410A>G	XP_006715479.1:p.Glu7470=
XM_006715417.1:c.22284A>G	XP_006715480.1:p.Glu7428=
XM_006715420.1:c.22272A>G	XP_006715483.1:p.Glu7424=
XM_006715421.1:c.22269A>G	XP_006715484.1:p.Glu7423=
XM_006715422.1:c.22266A>G	XP_006715485.1:p.Glu7422=
XM_006715423.1:c.22425A>G	XP_006715486.1:p.Glu7475=
XM_006715424.1:c.22425A>G	XP_006715487.1:p.Glu7475=
XM_006715425.1:c.22425A>G	XP_006715488.1:p.Glu7475=
XM_011535641.1:c.22422A>G	XP_011533943.1:p.Glu7474=
XM_011535642.1:c.22410A>G	XP_011533944.1:p.Glu7470=
XM_011535643.1:c.22260A>G	XP_011533945.1:p.Glu7420=
XM_011535644.1:c.20700A>G	XP_011533946.1:p.Glu6900=
XM_011535645.1:c.20193A>G	XP_011533947.1:p.Glu6731=
XM_011535647.1:c.15660A>G	XP_011533949.1:p.Glu5220=
XM_006715408.2:c.22413A>G	XP_006715471.1:p.Glu7471=
XM_006715410.2:c.22425A>G	XP_006715473.1:p.Glu7475=
XM_006715412.2:c.22410A>G	XP_006715475.1:p.Glu7470=
XM_006715413.2:c.22425A>G	XP_006715476.1:p.Glu7475=
XM_006715415.2:c.22425A>G	XP_006715478.1:p.Glu7475=
XM_006715416.2:c.22410A>G	XP_006715479.1:p.Glu7470=
XM_006715417.2:c.22284A>G	XP_006715480.1:p.Glu7428=
XM_006715420.2:c.22272A>G	XP_006715483.1:p.Glu7424=
XM_006715421.2:c.22269A>G	XP_006715484.1:p.Glu7423=
XM_006715423.2:c.22425A>G	XP_006715486.1:p.Glu7475=
XM_006715424.2:c.22425A>G	XP_006715487.1:p.Glu7475=
XM_006715425.2:c.22425A>G	XP_006715488.1:p.Glu7475=
XM_011535641.2:c.22422A>G	XP_011533943.1:p.Glu7474=
XM_011535642.2:c.22410A>G	XP_011533944.1:p.Glu7470=
XM_011535645.2:c.20193A>G	XP_011533947.1:p.Glu6731=
XM_017010608.1:c.22425A>G	XP_016866097.1:p.Glu7475=
XM_017010609.1:c.22425A>G	XP_016866098.1:p.Glu7475=
XM_017010610.1:c.22404A>G	XP_016866099.1:p.Glu7468=
XM_017010611.2:c.22398A>G	XP_016866100.1:p.Glu7466=
XM_017010612.1:c.22347A>G	XP_016866101.1:p.Glu7449=
XM_017010613.1:c.22422A>G	XP_016866102.1:p.Glu7474=
XM_017010614.1:c.22269A>G	XP_016866103.1:p.Glu7423=
XM_017010615.1:c.22269A>G	XP_016866104.1:p.Glu7423=
XM_017010616.1:c.22425A>G	XP_016866105.1:p.Glu7475=
XM_017010617.1:c.22422A>G	XP_016866106.1:p.Glu7474=
XM_017010618.1:c.22410A>G	XP_016866107.1:p.Glu7470=
XM_017010619.1:c.20700A>G	XP_016866108.1:p.Glu6900=
NM_182961.4:c.22389A>G MANE Select	NP_892006.3:p.Glu7463=
NM_033071.5:c.22176A>G	NP_149062.2:p.Glu7392=