Canonical Allele Identifier: CA4055005
Community Standard Title: NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152281879C>T , CM000668.2:g.152281879C>T GRCh38
NC_000006.11:g.152603014C>T , CM000668.1:g.152603014C>T GRCh37
NC_000006.10:g.152644707C>T NCBI36
NG_012855.1:g.360521G>A
NG_012855.2:g.360521G>A

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.18309G>A MANE Select NP_892006.3:p.Lys6103=
ENST00000367255.10:c.18309G>A MANE Select ENSP00000356224.5:p.Lys6103=
NM_033071.3:c.18096G>A NP_149062.1:p.Lys6032=
NM_033071.5:c.18096G>A NP_149062.2:p.Lys6032=
NM_182961.3:c.18309G>A NP_892006.3:p.Lys6103=
ENST00000341594.9:c.17094G>A ENSP00000341887.6:p.Lys5698=
ENST00000367255.9:c.18309G>A ENSP00000356224.5:p.Lys6103=
ENST00000367256.9:n.2001G>A
ENST00000409694.6:n.1893G>A
ENST00000423061.5:c.18096G>A ENSP00000396024.1:p.Lys6032=
ENST00000423061.6:c.18096G>A ENSP00000396024.1:p.Lys6032=
ENST00000488376.2:n.164G>A
ENST00000489156.1:n.1040G>A
XM_006715407.1:c.18342G>A XP_006715470.1:p.Lys6114=
XM_006715408.1:c.18330G>A XP_006715471.1:p.Lys6110=
XM_006715408.2:c.18330G>A XP_006715471.1:p.Lys6110=
XM_006715409.1:c.18321G>A XP_006715472.1:p.Lys6107=
XM_006715410.1:c.18342G>A XP_006715473.1:p.Lys6114=
XM_006715410.2:c.18342G>A XP_006715473.1:p.Lys6114=
XM_006715411.1:c.18291G>A XP_006715474.1:p.Lys6097=
XM_006715412.1:c.18330G>A XP_006715475.1:p.Lys6110=
XM_006715412.2:c.18330G>A XP_006715475.1:p.Lys6110=
XM_006715413.1:c.18342G>A XP_006715476.1:p.Lys6114=
XM_006715413.2:c.18342G>A XP_006715476.1:p.Lys6114=
XM_006715414.1:c.18270G>A XP_006715477.1:p.Lys6090=
XM_006715415.1:c.18342G>A XP_006715478.1:p.Lys6114=
XM_006715415.2:c.18342G>A XP_006715478.1:p.Lys6114=
XM_006715416.1:c.18330G>A XP_006715479.1:p.Lys6110=
XM_006715416.2:c.18330G>A XP_006715479.1:p.Lys6110=
XM_006715417.1:c.18201G>A XP_006715480.1:p.Lys6067=
XM_006715417.2:c.18201G>A XP_006715480.1:p.Lys6067=
XM_006715420.1:c.18189G>A XP_006715483.1:p.Lys6063=
XM_006715420.2:c.18189G>A XP_006715483.1:p.Lys6063=
XM_006715421.1:c.18186G>A XP_006715484.1:p.Lys6062=
XM_006715421.2:c.18186G>A XP_006715484.1:p.Lys6062=
XM_006715422.1:c.18183G>A XP_006715485.1:p.Lys6061=
XM_006715423.1:c.18342G>A XP_006715486.1:p.Lys6114=
XM_006715423.2:c.18342G>A XP_006715486.1:p.Lys6114=
XM_006715424.1:c.18342G>A XP_006715487.1:p.Lys6114=
XM_006715424.2:c.18342G>A XP_006715487.1:p.Lys6114=
XM_006715425.1:c.18342G>A XP_006715488.1:p.Lys6114=
XM_006715425.2:c.18342G>A XP_006715488.1:p.Lys6114=
XM_011535641.1:c.18342G>A XP_011533943.1:p.Lys6114=
XM_011535641.2:c.18342G>A XP_011533943.1:p.Lys6114=
XM_011535642.1:c.18330G>A XP_011533944.1:p.Lys6110=
XM_011535642.2:c.18330G>A XP_011533944.1:p.Lys6110=
XM_011535643.1:c.18177G>A XP_011533945.1:p.Lys6059=
XM_011535644.1:c.16617G>A XP_011533946.1:p.Lys5539=
XM_011535645.1:c.16110G>A XP_011533947.1:p.Lys5370=
XM_011535645.2:c.16110G>A XP_011533947.1:p.Lys5370=
XM_011535646.1:c.18342G>A XP_011533948.1:p.Lys6114=
XM_011535647.1:c.11577G>A XP_011533949.1:p.Lys3859=
XM_017010608.1:c.18342G>A XP_016866097.1:p.Lys6114=
XM_017010609.1:c.18342G>A XP_016866098.1:p.Lys6114=
XM_017010610.1:c.18321G>A XP_016866099.1:p.Lys6107=
XM_017010611.2:c.18315G>A XP_016866100.1:p.Lys6105=
XM_017010612.1:c.18264G>A XP_016866101.1:p.Lys6088=
XM_017010613.1:c.18342G>A XP_016866102.1:p.Lys6114=
XM_017010614.1:c.18189G>A XP_016866103.1:p.Lys6063=
XM_017010615.1:c.18189G>A XP_016866104.1:p.Lys6063=
XM_017010616.1:c.18342G>A XP_016866105.1:p.Lys6114=
XM_017010617.1:c.18342G>A XP_016866106.1:p.Lys6114=
XM_017010618.1:c.18330G>A XP_016866107.1:p.Lys6110=
XM_017010619.1:c.16617G>A XP_016866108.1:p.Lys5539=
XR_001743287.1:n.18825G>A