Canonical Allele Identifier: CA4053701
Community Standard Title: NM_182961.4(SYNE1):c.23068C>T (p.Arg7690Ter)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152201901G>A , CM000668.2:g.152201901G>A GRCh38
NC_000006.11:g.152523036G>A , CM000668.1:g.152523036G>A GRCh37
NC_000006.10:g.152564729G>A NCBI36
NG_012855.1:g.440499C>T
NG_012855.2:g.440499C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.23068C>T MANE Select NP_892006.3:p.Arg7690Ter
ENST00000367255.10:c.23068C>T MANE Select ENSP00000356224.5:p.Arg7690Ter
NM_033071.3:c.22855C>T NP_149062.1:p.Arg7619Ter
NM_033071.5:c.22855C>T NP_149062.2:p.Arg7619Ter
NM_182961.3:c.23068C>T NP_892006.3:p.Arg7690Ter
ENST00000341594.9:c.21853C>T ENSP00000341887.6:p.Arg7285Ter
ENST00000367251.7:c.1834C>T ENSP00000356220.3:p.Arg612Ter
ENST00000367255.9:c.23068C>T ENSP00000356224.5:p.Arg7690Ter
ENST00000367256.9:n.6760C>T
ENST00000367257.8:c.1006C>T ENSP00000356226.4:p.Arg336Ter
ENST00000409694.6:n.6652C>T
ENST00000423061.5:c.22855C>T ENSP00000396024.1:p.Arg7619Ter
ENST00000423061.6:c.22855C>T ENSP00000396024.1:p.Arg7619Ter
XM_006715407.1:c.23104C>T XP_006715470.1:p.Arg7702Ter
XM_006715408.1:c.23092C>T XP_006715471.1:p.Arg7698Ter
XM_006715408.2:c.23092C>T XP_006715471.1:p.Arg7698Ter
XM_006715409.1:c.23083C>T XP_006715472.1:p.Arg7695Ter
XM_006715410.1:c.23104C>T XP_006715473.1:p.Arg7702Ter
XM_006715410.2:c.23104C>T XP_006715473.1:p.Arg7702Ter
XM_006715411.1:c.23053C>T XP_006715474.1:p.Arg7685Ter
XM_006715412.1:c.23089C>T XP_006715475.1:p.Arg7697Ter
XM_006715412.2:c.23089C>T XP_006715475.1:p.Arg7697Ter
XM_006715413.1:c.23104C>T XP_006715476.1:p.Arg7702Ter
XM_006715413.2:c.23104C>T XP_006715476.1:p.Arg7702Ter
XM_006715414.1:c.23032C>T XP_006715477.1:p.Arg7678Ter
XM_006715415.1:c.23104C>T XP_006715478.1:p.Arg7702Ter
XM_006715415.2:c.23104C>T XP_006715478.1:p.Arg7702Ter
XM_006715416.1:c.23089C>T XP_006715479.1:p.Arg7697Ter
XM_006715416.2:c.23089C>T XP_006715479.1:p.Arg7697Ter
XM_006715417.1:c.22963C>T XP_006715480.1:p.Arg7655Ter
XM_006715417.2:c.22963C>T XP_006715480.1:p.Arg7655Ter
XM_006715420.1:c.22951C>T XP_006715483.1:p.Arg7651Ter
XM_006715420.2:c.22951C>T XP_006715483.1:p.Arg7651Ter
XM_006715421.1:c.22948C>T XP_006715484.1:p.Arg7650Ter
XM_006715421.2:c.22948C>T XP_006715484.1:p.Arg7650Ter
XM_006715422.1:c.22945C>T XP_006715485.1:p.Arg7649Ter
XM_006715423.1:c.23104C>T XP_006715486.1:p.Arg7702Ter
XM_006715423.2:c.23104C>T XP_006715486.1:p.Arg7702Ter
XM_006715424.1:c.23104C>T XP_006715487.1:p.Arg7702Ter
XM_006715424.2:c.23104C>T XP_006715487.1:p.Arg7702Ter
XM_006715425.1:c.23104C>T XP_006715488.1:p.Arg7702Ter
XM_006715425.2:c.23104C>T XP_006715488.1:p.Arg7702Ter
XM_011535641.1:c.23101C>T XP_011533943.1:p.Arg7701Ter
XM_011535641.2:c.23101C>T XP_011533943.1:p.Arg7701Ter
XM_011535642.1:c.23089C>T XP_011533944.1:p.Arg7697Ter
XM_011535642.2:c.23089C>T XP_011533944.1:p.Arg7697Ter
XM_011535643.1:c.22939C>T XP_011533945.1:p.Arg7647Ter
XM_011535644.1:c.21379C>T XP_011533946.1:p.Arg7127Ter
XM_011535645.1:c.20872C>T XP_011533947.1:p.Arg6958Ter
XM_011535645.2:c.20872C>T XP_011533947.1:p.Arg6958Ter
XM_011535647.1:c.16339C>T XP_011533949.1:p.Arg5447Ter
XM_017010608.1:c.23104C>T XP_016866097.1:p.Arg7702Ter
XM_017010609.1:c.23104C>T XP_016866098.1:p.Arg7702Ter
XM_017010610.1:c.23083C>T XP_016866099.1:p.Arg7695Ter
XM_017010611.2:c.23077C>T XP_016866100.1:p.Arg7693Ter
XM_017010612.1:c.23026C>T XP_016866101.1:p.Arg7676Ter
XM_017010613.1:c.23101C>T XP_016866102.1:p.Arg7701Ter
XM_017010614.1:c.22948C>T XP_016866103.1:p.Arg7650Ter
XM_017010615.1:c.22948C>T XP_016866104.1:p.Arg7650Ter
XM_017010616.1:c.23104C>T XP_016866105.1:p.Arg7702Ter
XM_017010617.1:c.23101C>T XP_016866106.1:p.Arg7701Ter
XM_017010618.1:c.23089C>T XP_016866107.1:p.Arg7697Ter
XM_017010619.1:c.21379C>T XP_016866108.1:p.Arg7127Ter