Canonical Allele Identifier: CA4054415

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152234674A>G , CM000668.2:g.152234674A>G	GRCh38
NC_000006.11:g.152555809A>G , CM000668.1:g.152555809A>G	GRCh37
NC_000006.10:g.152597502A>G	NCBI36
NG_012855.1:g.407726T>C
NG_012855.2:g.407726T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.20523T>C MANE Select	NP_892006.3:p.Ala6841=
ENST00000367255.10:c.20523T>C MANE Select	ENSP00000356224.5:p.Ala6841=
NM_033071.3:c.20310T>C	NP_149062.1:p.Ala6770=
NM_033071.5:c.20310T>C	NP_149062.2:p.Ala6770=
NM_182961.3:c.20523T>C	NP_892006.3:p.Ala6841=
ENST00000341594.9:c.19308T>C	ENSP00000341887.6:p.Ala6436=
ENST00000367255.9:c.20523T>C	ENSP00000356224.5:p.Ala6841=
ENST00000367256.9:n.4215T>C
ENST00000409694.6:n.4107T>C
ENST00000423061.5:c.20310T>C	ENSP00000396024.1:p.Ala6770=
ENST00000423061.6:c.20310T>C	ENSP00000396024.1:p.Ala6770=
XM_006715407.1:c.20559T>C	XP_006715470.1:p.Ala6853=
XM_006715408.1:c.20547T>C	XP_006715471.1:p.Ala6849=
XM_006715408.2:c.20547T>C	XP_006715471.1:p.Ala6849=
XM_006715409.1:c.20538T>C	XP_006715472.1:p.Ala6846=
XM_006715410.1:c.20559T>C	XP_006715473.1:p.Ala6853=
XM_006715410.2:c.20559T>C	XP_006715473.1:p.Ala6853=
XM_006715411.1:c.20508T>C	XP_006715474.1:p.Ala6836=
XM_006715412.1:c.20544T>C	XP_006715475.1:p.Ala6848=
XM_006715412.2:c.20544T>C	XP_006715475.1:p.Ala6848=
XM_006715413.1:c.20559T>C	XP_006715476.1:p.Ala6853=
XM_006715413.2:c.20559T>C	XP_006715476.1:p.Ala6853=
XM_006715414.1:c.20487T>C	XP_006715477.1:p.Ala6829=
XM_006715415.1:c.20559T>C	XP_006715478.1:p.Ala6853=
XM_006715415.2:c.20559T>C	XP_006715478.1:p.Ala6853=
XM_006715416.1:c.20544T>C	XP_006715479.1:p.Ala6848=
XM_006715416.2:c.20544T>C	XP_006715479.1:p.Ala6848=
XM_006715417.1:c.20418T>C	XP_006715480.1:p.Ala6806=
XM_006715417.2:c.20418T>C	XP_006715480.1:p.Ala6806=
XM_006715420.1:c.20406T>C	XP_006715483.1:p.Ala6802=
XM_006715420.2:c.20406T>C	XP_006715483.1:p.Ala6802=
XM_006715421.1:c.20403T>C	XP_006715484.1:p.Ala6801=
XM_006715421.2:c.20403T>C	XP_006715484.1:p.Ala6801=
XM_006715422.1:c.20400T>C	XP_006715485.1:p.Ala6800=
XM_006715423.1:c.20559T>C	XP_006715486.1:p.Ala6853=
XM_006715423.2:c.20559T>C	XP_006715486.1:p.Ala6853=
XM_006715424.1:c.20559T>C	XP_006715487.1:p.Ala6853=
XM_006715424.2:c.20559T>C	XP_006715487.1:p.Ala6853=
XM_006715425.1:c.20559T>C	XP_006715488.1:p.Ala6853=
XM_006715425.2:c.20559T>C	XP_006715488.1:p.Ala6853=
XM_011535641.1:c.20556T>C	XP_011533943.1:p.Ala6852=
XM_011535641.2:c.20556T>C	XP_011533943.1:p.Ala6852=
XM_011535642.1:c.20544T>C	XP_011533944.1:p.Ala6848=
XM_011535642.2:c.20544T>C	XP_011533944.1:p.Ala6848=
XM_011535643.1:c.20394T>C	XP_011533945.1:p.Ala6798=
XM_011535644.1:c.18834T>C	XP_011533946.1:p.Ala6278=
XM_011535645.1:c.18327T>C	XP_011533947.1:p.Ala6109=
XM_011535645.2:c.18327T>C	XP_011533947.1:p.Ala6109=
XM_011535647.1:c.13794T>C	XP_011533949.1:p.Ala4598=
XM_017010608.1:c.20559T>C	XP_016866097.1:p.Ala6853=
XM_017010609.1:c.20559T>C	XP_016866098.1:p.Ala6853=
XM_017010610.1:c.20538T>C	XP_016866099.1:p.Ala6846=
XM_017010611.2:c.20532T>C	XP_016866100.1:p.Ala6844=
XM_017010612.1:c.20481T>C	XP_016866101.1:p.Ala6827=
XM_017010613.1:c.20556T>C	XP_016866102.1:p.Ala6852=
XM_017010614.1:c.20403T>C	XP_016866103.1:p.Ala6801=
XM_017010615.1:c.20403T>C	XP_016866104.1:p.Ala6801=
XM_017010616.1:c.20559T>C	XP_016866105.1:p.Ala6853=
XM_017010617.1:c.20556T>C	XP_016866106.1:p.Ala6852=
XM_017010618.1:c.20544T>C	XP_016866107.1:p.Ala6848=
XM_017010619.1:c.18834T>C	XP_016866108.1:p.Ala6278=