Canonical Allele Identifier: CA4052961
Community Standard Title: NM_182961.4(SYNE1):c.25070G>A (p.Arg8357His)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152143672C>T , CM000668.2:g.152143672C>T GRCh38
NC_000006.11:g.152464807C>T , CM000668.1:g.152464807C>T GRCh37
NC_000006.10:g.152506500C>T NCBI36
NG_012855.1:g.498728G>A
NG_012855.2:g.498728G>A

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.25070G>A MANE Select NP_892006.3:p.Arg8357His
ENST00000367255.10:c.25070G>A MANE Select ENSP00000356224.5:p.Arg8357His
NM_001347702.2:c.1604G>A MANE Plus Clinical NP_001334631.1:p.Arg535His
ENST00000354674.5:c.1604G>A MANE Plus Clinical ENSP00000346701.4:p.Arg535His
NM_001347701.1:c.1676G>A NP_001334630.1:p.Arg559His
NM_001347701.2:c.1676G>A NP_001334630.1:p.Arg559His
NM_001347702.1:c.1604G>A NP_001334631.1:p.Arg535His
NM_033071.3:c.24926G>A NP_149062.1:p.Arg8309His
NM_033071.5:c.24926G>A NP_149062.2:p.Arg8309His
NM_182961.3:c.25070G>A NP_892006.3:p.Arg8357His
ENST00000341594.9:c.23855G>A ENSP00000341887.6:p.Arg7952His
ENST00000347037.9:n.1818G>A
ENST00000354674.4:c.1604G>A ENSP00000346701.4:p.Arg535His
ENST00000367251.7:c.3905G>A ENSP00000356220.3:p.Arg1302His
ENST00000367255.9:c.25070G>A ENSP00000356224.5:p.Arg8357His
ENST00000367256.9:n.8762G>A
ENST00000367257.8:c.3008G>A ENSP00000356226.4:p.Arg1003His
ENST00000409694.6:n.8654G>A
ENST00000423061.5:c.24926G>A ENSP00000396024.1:p.Arg8309His
ENST00000423061.6:c.24926G>A ENSP00000396024.1:p.Arg8309His
ENST00000460912.6:n.1684G>A
ENST00000478916.5:n.4092G>A
ENST00000536990.5:n.1907G>A
ENST00000539504.5:c.1535G>A ENSP00000441052.1:p.Arg512His
ENST00000672154.1:c.472G>A
ENST00000672169.1:c.805G>A
ENST00000673173.1:c.891-3511G>A
ENST00000673451.1:c.842G>A ENSP00000500189.1:p.Arg281His
XM_006715407.1:c.25175G>A XP_006715470.1:p.Arg8392His
XM_006715408.1:c.25163G>A XP_006715471.1:p.Arg8388His
XM_006715408.2:c.25163G>A XP_006715471.1:p.Arg8388His
XM_006715409.1:c.25154G>A XP_006715472.1:p.Arg8385His
XM_006715410.1:c.25175G>A XP_006715473.1:p.Arg8392His
XM_006715410.2:c.25175G>A XP_006715473.1:p.Arg8392His
XM_006715411.1:c.25124G>A XP_006715474.1:p.Arg8375His
XM_006715412.1:c.25160G>A XP_006715475.1:p.Arg8387His
XM_006715412.2:c.25160G>A XP_006715475.1:p.Arg8387His
XM_006715413.1:c.25106G>A XP_006715476.1:p.Arg8369His
XM_006715413.2:c.25106G>A XP_006715476.1:p.Arg8369His
XM_006715414.1:c.25103G>A XP_006715477.1:p.Arg8368His
XM_006715415.1:c.25106G>A XP_006715478.1:p.Arg8369His
XM_006715415.2:c.25106G>A XP_006715478.1:p.Arg8369His
XM_006715416.1:c.25091G>A XP_006715479.1:p.Arg8364His
XM_006715416.2:c.25091G>A XP_006715479.1:p.Arg8364His
XM_006715417.1:c.25034G>A XP_006715480.1:p.Arg8345His
XM_006715417.2:c.25034G>A XP_006715480.1:p.Arg8345His
XM_006715420.1:c.25022G>A XP_006715483.1:p.Arg8341His
XM_006715420.2:c.25022G>A XP_006715483.1:p.Arg8341His
XM_006715421.1:c.25019G>A XP_006715484.1:p.Arg8340His
XM_006715421.2:c.25019G>A XP_006715484.1:p.Arg8340His
XM_006715422.1:c.25016G>A XP_006715485.1:p.Arg8339His
XM_006715423.1:c.25175G>A XP_006715486.1:p.Arg8392His
XM_006715423.2:c.25175G>A XP_006715486.1:p.Arg8392His
XM_006715424.1:c.25175G>A XP_006715487.1:p.Arg8392His
XM_006715424.2:c.25175G>A XP_006715487.1:p.Arg8392His
XM_006715425.1:c.25106G>A XP_006715488.1:p.Arg8369His
XM_006715425.2:c.25106G>A XP_006715488.1:p.Arg8369His
XM_011535641.1:c.25172G>A XP_011533943.1:p.Arg8391His
XM_011535641.2:c.25172G>A XP_011533943.1:p.Arg8391His
XM_011535642.1:c.25160G>A XP_011533944.1:p.Arg8387His
XM_011535642.2:c.25160G>A XP_011533944.1:p.Arg8387His
XM_011535643.1:c.25010G>A XP_011533945.1:p.Arg8337His
XM_011535644.1:c.23450G>A XP_011533946.1:p.Arg7817His
XM_011535645.1:c.22943G>A XP_011533947.1:p.Arg7648His
XM_011535645.2:c.22943G>A XP_011533947.1:p.Arg7648His
XM_011535647.1:c.18410G>A XP_011533949.1:p.Arg6137His
XM_017010608.1:c.25175G>A XP_016866097.1:p.Arg8392His
XM_017010609.1:c.25175G>A XP_016866098.1:p.Arg8392His
XM_017010610.1:c.25154G>A XP_016866099.1:p.Arg8385His
XM_017010611.2:c.25148G>A XP_016866100.1:p.Arg8383His
XM_017010612.1:c.25097G>A XP_016866101.1:p.Arg8366His
XM_017010613.1:c.25103G>A XP_016866102.1:p.Arg8368His
XM_017010614.1:c.25019G>A XP_016866103.1:p.Arg8340His
XM_017010615.1:c.24950G>A XP_016866104.1:p.Arg8317His
XM_017010616.1:c.25106G>A XP_016866105.1:p.Arg8369His
XM_017010617.1:c.25103G>A XP_016866106.1:p.Arg8368His
XM_017010618.1:c.25091G>A XP_016866107.1:p.Arg8364His
XM_017010619.1:c.23450G>A XP_016866108.1:p.Arg7817His