Canonical Allele Identifier: CA366116796
Community Standard Title: NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152458789G>A , CM000668.2:g.152458789G>A GRCh38
NC_000006.11:g.152779924G>A , CM000668.1:g.152779924G>A GRCh37
NC_000006.10:g.152821617G>A NCBI36
NG_012855.1:g.183611C>T
NG_012855.2:g.183611C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.2536C>T MANE Select NP_892006.3:p.Gln846Ter
ENST00000367255.10:c.2536C>T MANE Select ENSP00000356224.5:p.Gln846Ter
NM_033071.3:c.2557C>T NP_149062.1:p.Gln853Ter
NM_033071.5:c.2557C>T NP_149062.2:p.Gln853Ter
NM_182961.3:c.2536C>T NP_892006.3:p.Gln846Ter
ENST00000341594.9:c.2506C>T ENSP00000341887.6:p.Gln836Ter
ENST00000367248.7:c.2506C>T ENSP00000356217.3:p.Gln836Ter
ENST00000367253.8:c.2536C>T ENSP00000356222.4:p.Gln846Ter
ENST00000367255.9:c.2536C>T ENSP00000356224.5:p.Gln846Ter
ENST00000413186.6:c.2536C>T ENSP00000414510.2:p.Gln846Ter
ENST00000423061.5:c.2557C>T ENSP00000396024.1:p.Gln853Ter
ENST00000423061.6:c.2557C>T ENSP00000396024.1:p.Gln853Ter
ENST00000461872.6:n.2754C>T
ENST00000474655.6:c.1138C>T
ENST00000495090.6:c.1237C>T ENSP00000438508.1:p.Gln413Ter
ENST00000535896.6:n.1356C>T
ENST00000672122.1:c.2479C>T ENSP00000500559.1:p.Gln827Ter
ENST00000673163.1:c.*2506C>T ENSP00000499934.1:n.*2506C>T
ENST00000673281.1:c.2530C>T ENSP00000500893.1:p.Gln844Ter
XM_006715407.1:c.2557C>T XP_006715470.1:p.Gln853Ter
XM_006715408.1:c.2557C>T XP_006715471.1:p.Gln853Ter
XM_006715408.2:c.2557C>T XP_006715471.1:p.Gln853Ter
XM_006715409.1:c.2536C>T XP_006715472.1:p.Gln846Ter
XM_006715410.1:c.2557C>T XP_006715473.1:p.Gln853Ter
XM_006715410.2:c.2557C>T XP_006715473.1:p.Gln853Ter
XM_006715411.1:c.2506C>T XP_006715474.1:p.Gln836Ter
XM_006715412.1:c.2557C>T XP_006715475.1:p.Gln853Ter
XM_006715412.2:c.2557C>T XP_006715475.1:p.Gln853Ter
XM_006715413.1:c.2557C>T XP_006715476.1:p.Gln853Ter
XM_006715413.2:c.2557C>T XP_006715476.1:p.Gln853Ter
XM_006715414.1:c.2485C>T XP_006715477.1:p.Gln829Ter
XM_006715415.1:c.2557C>T XP_006715478.1:p.Gln853Ter
XM_006715415.2:c.2557C>T XP_006715478.1:p.Gln853Ter
XM_006715416.1:c.2557C>T XP_006715479.1:p.Gln853Ter
XM_006715416.2:c.2557C>T XP_006715479.1:p.Gln853Ter
XM_006715417.1:c.2557C>T XP_006715480.1:p.Gln853Ter
XM_006715417.2:c.2557C>T XP_006715480.1:p.Gln853Ter
XM_006715420.1:c.2557C>T XP_006715483.1:p.Gln853Ter
XM_006715420.2:c.2557C>T XP_006715483.1:p.Gln853Ter
XM_006715421.1:c.2557C>T XP_006715484.1:p.Gln853Ter
XM_006715421.2:c.2557C>T XP_006715484.1:p.Gln853Ter
XM_006715422.1:c.2557C>T XP_006715485.1:p.Gln853Ter
XM_006715423.1:c.2557C>T XP_006715486.1:p.Gln853Ter
XM_006715423.2:c.2557C>T XP_006715486.1:p.Gln853Ter
XM_006715424.1:c.2557C>T XP_006715487.1:p.Gln853Ter
XM_006715424.2:c.2557C>T XP_006715487.1:p.Gln853Ter
XM_006715425.1:c.2557C>T XP_006715488.1:p.Gln853Ter
XM_006715425.2:c.2557C>T XP_006715488.1:p.Gln853Ter
XM_011535641.1:c.2557C>T XP_011533943.1:p.Gln853Ter
XM_011535641.2:c.2557C>T XP_011533943.1:p.Gln853Ter
XM_011535642.1:c.2557C>T XP_011533944.1:p.Gln853Ter
XM_011535642.2:c.2557C>T XP_011533944.1:p.Gln853Ter
XM_011535643.1:c.2392C>T XP_011533945.1:p.Gln798Ter
XM_011535644.1:c.832C>T XP_011533946.1:p.Gln278Ter
XM_011535645.1:c.325C>T XP_011533947.1:p.Gln109Ter
XM_011535645.2:c.325C>T XP_011533947.1:p.Gln109Ter
XM_011535646.1:c.2557C>T XP_011533948.1:p.Gln853Ter
XM_017010608.1:c.2557C>T XP_016866097.1:p.Gln853Ter
XM_017010609.1:c.2557C>T XP_016866098.1:p.Gln853Ter
XM_017010610.1:c.2536C>T XP_016866099.1:p.Gln846Ter
XM_017010611.2:c.2530C>T XP_016866100.1:p.Gln844Ter
XM_017010612.1:c.2479C>T XP_016866101.1:p.Gln827Ter
XM_017010613.1:c.2557C>T XP_016866102.1:p.Gln853Ter
XM_017010614.1:c.2557C>T XP_016866103.1:p.Gln853Ter
XM_017010615.1:c.2557C>T XP_016866104.1:p.Gln853Ter
XM_017010616.1:c.2557C>T XP_016866105.1:p.Gln853Ter
XM_017010617.1:c.2557C>T XP_016866106.1:p.Gln853Ter
XM_017010618.1:c.2557C>T XP_016866107.1:p.Gln853Ter
XM_017010619.1:c.832C>T XP_016866108.1:p.Gln278Ter
XR_001743287.1:n.3040C>T