Canonical Allele Identifier: CA366099518

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152534869G>C (hg19) ; chr6:g.152213734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213734G>C , CM000668.2:g.152213734G>C	GRCh38
NC_000006.11:g.152534869G>C , CM000668.1:g.152534869G>C	GRCh37
NC_000006.10:g.152576562G>C	NCBI36
NG_012855.1:g.428666C>G
NG_012855.2:g.428666C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22372C>G MANE Select	ENSP00000356224.5:p.His7458Asp
ENST00000423061.6:c.22159C>G	ENSP00000396024.1:p.His7387Asp
ENST00000341594.9:c.21157C>G	ENSP00000341887.6:p.His7053Asp
ENST00000367251.7:c.1138C>G	ENSP00000356220.3:p.His380Asp
ENST00000367255.9:c.22372C>G	ENSP00000356224.5:p.His7458Asp
ENST00000367256.9:n.6064C>G
ENST00000367257.8:c.310C>G	ENSP00000356226.4:p.His104Asp
ENST00000409694.6:n.5956C>G
ENST00000423061.5:c.22159C>G	ENSP00000396024.1:p.His7387Asp
NM_033071.3:c.22159C>G	NP_149062.1:p.His7387Asp
NM_182961.3:c.22372C>G	NP_892006.3:p.His7458Asp
XM_006715407.1:c.22408C>G	XP_006715470.1:p.His7470Asp
XM_006715408.1:c.22396C>G	XP_006715471.1:p.His7466Asp
XM_006715409.1:c.22387C>G	XP_006715472.1:p.His7463Asp
XM_006715410.1:c.22408C>G	XP_006715473.1:p.His7470Asp
XM_006715411.1:c.22357C>G	XP_006715474.1:p.His7453Asp
XM_006715412.1:c.22393C>G	XP_006715475.1:p.His7465Asp
XM_006715413.1:c.22408C>G	XP_006715476.1:p.His7470Asp
XM_006715414.1:c.22336C>G	XP_006715477.1:p.His7446Asp
XM_006715415.1:c.22408C>G	XP_006715478.1:p.His7470Asp
XM_006715416.1:c.22393C>G	XP_006715479.1:p.His7465Asp
XM_006715417.1:c.22267C>G	XP_006715480.1:p.His7423Asp
XM_006715420.1:c.22255C>G	XP_006715483.1:p.His7419Asp
XM_006715421.1:c.22252C>G	XP_006715484.1:p.His7418Asp
XM_006715422.1:c.22249C>G	XP_006715485.1:p.His7417Asp
XM_006715423.1:c.22408C>G	XP_006715486.1:p.His7470Asp
XM_006715424.1:c.22408C>G	XP_006715487.1:p.His7470Asp
XM_006715425.1:c.22408C>G	XP_006715488.1:p.His7470Asp
XM_011535641.1:c.22405C>G	XP_011533943.1:p.His7469Asp
XM_011535642.1:c.22393C>G	XP_011533944.1:p.His7465Asp
XM_011535643.1:c.22243C>G	XP_011533945.1:p.His7415Asp
XM_011535644.1:c.20683C>G	XP_011533946.1:p.His6895Asp
XM_011535645.1:c.20176C>G	XP_011533947.1:p.His6726Asp
XM_011535647.1:c.15643C>G	XP_011533949.1:p.His5215Asp
XM_006715408.2:c.22396C>G	XP_006715471.1:p.His7466Asp
XM_006715410.2:c.22408C>G	XP_006715473.1:p.His7470Asp
XM_006715412.2:c.22393C>G	XP_006715475.1:p.His7465Asp
XM_006715413.2:c.22408C>G	XP_006715476.1:p.His7470Asp
XM_006715415.2:c.22408C>G	XP_006715478.1:p.His7470Asp
XM_006715416.2:c.22393C>G	XP_006715479.1:p.His7465Asp
XM_006715417.2:c.22267C>G	XP_006715480.1:p.His7423Asp
XM_006715420.2:c.22255C>G	XP_006715483.1:p.His7419Asp
XM_006715421.2:c.22252C>G	XP_006715484.1:p.His7418Asp
XM_006715423.2:c.22408C>G	XP_006715486.1:p.His7470Asp
XM_006715424.2:c.22408C>G	XP_006715487.1:p.His7470Asp
XM_006715425.2:c.22408C>G	XP_006715488.1:p.His7470Asp
XM_011535641.2:c.22405C>G	XP_011533943.1:p.His7469Asp
XM_011535642.2:c.22393C>G	XP_011533944.1:p.His7465Asp
XM_011535645.2:c.20176C>G	XP_011533947.1:p.His6726Asp
XM_017010608.1:c.22408C>G	XP_016866097.1:p.His7470Asp
XM_017010609.1:c.22408C>G	XP_016866098.1:p.His7470Asp
XM_017010610.1:c.22387C>G	XP_016866099.1:p.His7463Asp
XM_017010611.2:c.22381C>G	XP_016866100.1:p.His7461Asp
XM_017010612.1:c.22330C>G	XP_016866101.1:p.His7444Asp
XM_017010613.1:c.22405C>G	XP_016866102.1:p.His7469Asp
XM_017010614.1:c.22252C>G	XP_016866103.1:p.His7418Asp
XM_017010615.1:c.22252C>G	XP_016866104.1:p.His7418Asp
XM_017010616.1:c.22408C>G	XP_016866105.1:p.His7470Asp
XM_017010617.1:c.22405C>G	XP_016866106.1:p.His7469Asp
XM_017010618.1:c.22393C>G	XP_016866107.1:p.His7465Asp
XM_017010619.1:c.20683C>G	XP_016866108.1:p.His6895Asp
NM_182961.4:c.22372C>G MANE Select	NP_892006.3:p.His7458Asp
NM_033071.5:c.22159C>G	NP_149062.2:p.His7387Asp