Canonical Allele Identifier: CA366099499

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152213730-T-G
• MyVariant Identifiers: chr6:g.152534865T>G (hg19) ; chr6:g.152213730T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213730T>G , CM000668.2:g.152213730T>G	GRCh38
NC_000006.11:g.152534865T>G , CM000668.1:g.152534865T>G	GRCh37
NC_000006.10:g.152576558T>G	NCBI36
NG_012855.1:g.428670A>C
NG_012855.2:g.428670A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22376A>C MANE Select	ENSP00000356224.5:p.Gln7459Pro
ENST00000423061.6:c.22163A>C	ENSP00000396024.1:p.Gln7388Pro
ENST00000341594.9:c.21161A>C	ENSP00000341887.6:p.Gln7054Pro
ENST00000367251.7:c.1142A>C	ENSP00000356220.3:p.Gln381Pro
ENST00000367255.9:c.22376A>C	ENSP00000356224.5:p.Gln7459Pro
ENST00000367256.9:n.6068A>C
ENST00000367257.8:c.314A>C	ENSP00000356226.4:p.Gln105Pro
ENST00000409694.6:n.5960A>C
ENST00000423061.5:c.22163A>C	ENSP00000396024.1:p.Gln7388Pro
NM_033071.3:c.22163A>C	NP_149062.1:p.Gln7388Pro
NM_182961.3:c.22376A>C	NP_892006.3:p.Gln7459Pro
XM_006715407.1:c.22412A>C	XP_006715470.1:p.Gln7471Pro
XM_006715408.1:c.22400A>C	XP_006715471.1:p.Gln7467Pro
XM_006715409.1:c.22391A>C	XP_006715472.1:p.Gln7464Pro
XM_006715410.1:c.22412A>C	XP_006715473.1:p.Gln7471Pro
XM_006715411.1:c.22361A>C	XP_006715474.1:p.Gln7454Pro
XM_006715412.1:c.22397A>C	XP_006715475.1:p.Gln7466Pro
XM_006715413.1:c.22412A>C	XP_006715476.1:p.Gln7471Pro
XM_006715414.1:c.22340A>C	XP_006715477.1:p.Gln7447Pro
XM_006715415.1:c.22412A>C	XP_006715478.1:p.Gln7471Pro
XM_006715416.1:c.22397A>C	XP_006715479.1:p.Gln7466Pro
XM_006715417.1:c.22271A>C	XP_006715480.1:p.Gln7424Pro
XM_006715420.1:c.22259A>C	XP_006715483.1:p.Gln7420Pro
XM_006715421.1:c.22256A>C	XP_006715484.1:p.Gln7419Pro
XM_006715422.1:c.22253A>C	XP_006715485.1:p.Gln7418Pro
XM_006715423.1:c.22412A>C	XP_006715486.1:p.Gln7471Pro
XM_006715424.1:c.22412A>C	XP_006715487.1:p.Gln7471Pro
XM_006715425.1:c.22412A>C	XP_006715488.1:p.Gln7471Pro
XM_011535641.1:c.22409A>C	XP_011533943.1:p.Gln7470Pro
XM_011535642.1:c.22397A>C	XP_011533944.1:p.Gln7466Pro
XM_011535643.1:c.22247A>C	XP_011533945.1:p.Gln7416Pro
XM_011535644.1:c.20687A>C	XP_011533946.1:p.Gln6896Pro
XM_011535645.1:c.20180A>C	XP_011533947.1:p.Gln6727Pro
XM_011535647.1:c.15647A>C	XP_011533949.1:p.Gln5216Pro
XM_006715408.2:c.22400A>C	XP_006715471.1:p.Gln7467Pro
XM_006715410.2:c.22412A>C	XP_006715473.1:p.Gln7471Pro
XM_006715412.2:c.22397A>C	XP_006715475.1:p.Gln7466Pro
XM_006715413.2:c.22412A>C	XP_006715476.1:p.Gln7471Pro
XM_006715415.2:c.22412A>C	XP_006715478.1:p.Gln7471Pro
XM_006715416.2:c.22397A>C	XP_006715479.1:p.Gln7466Pro
XM_006715417.2:c.22271A>C	XP_006715480.1:p.Gln7424Pro
XM_006715420.2:c.22259A>C	XP_006715483.1:p.Gln7420Pro
XM_006715421.2:c.22256A>C	XP_006715484.1:p.Gln7419Pro
XM_006715423.2:c.22412A>C	XP_006715486.1:p.Gln7471Pro
XM_006715424.2:c.22412A>C	XP_006715487.1:p.Gln7471Pro
XM_006715425.2:c.22412A>C	XP_006715488.1:p.Gln7471Pro
XM_011535641.2:c.22409A>C	XP_011533943.1:p.Gln7470Pro
XM_011535642.2:c.22397A>C	XP_011533944.1:p.Gln7466Pro
XM_011535645.2:c.20180A>C	XP_011533947.1:p.Gln6727Pro
XM_017010608.1:c.22412A>C	XP_016866097.1:p.Gln7471Pro
XM_017010609.1:c.22412A>C	XP_016866098.1:p.Gln7471Pro
XM_017010610.1:c.22391A>C	XP_016866099.1:p.Gln7464Pro
XM_017010611.2:c.22385A>C	XP_016866100.1:p.Gln7462Pro
XM_017010612.1:c.22334A>C	XP_016866101.1:p.Gln7445Pro
XM_017010613.1:c.22409A>C	XP_016866102.1:p.Gln7470Pro
XM_017010614.1:c.22256A>C	XP_016866103.1:p.Gln7419Pro
XM_017010615.1:c.22256A>C	XP_016866104.1:p.Gln7419Pro
XM_017010616.1:c.22412A>C	XP_016866105.1:p.Gln7471Pro
XM_017010617.1:c.22409A>C	XP_016866106.1:p.Gln7470Pro
XM_017010618.1:c.22397A>C	XP_016866107.1:p.Gln7466Pro
XM_017010619.1:c.20687A>C	XP_016866108.1:p.Gln6896Pro
NM_182961.4:c.22376A>C MANE Select	NP_892006.3:p.Gln7459Pro
NM_033071.5:c.22163A>C	NP_149062.2:p.Gln7388Pro