Canonical Allele Identifier: CA4053886

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 665517
• ClinVar RCV Id: RCV000823822
• dbSNP Id: rs751450784
• ExAC: 6:152534836 T / C
• gnomAD v2: 6-152534836-T-C
• gnomAD v3: 6-152213701-T-C
• gnomAD v4: 6-152213701-T-C
• MyVariant Identifiers: chr6:g.152534836T>C (hg19) ; chr6:g.152213701T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213701T>C , CM000668.2:g.152213701T>C	GRCh38
NC_000006.11:g.152534836T>C , CM000668.1:g.152534836T>C	GRCh37
NC_000006.10:g.152576529T>C	NCBI36
NG_012855.1:g.428699A>G
NG_012855.2:g.428699A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22405A>G MANE Select	ENSP00000356224.5:p.Met7469Val
ENST00000423061.6:c.22192A>G	ENSP00000396024.1:p.Met7398Val
ENST00000341594.9:c.21190A>G	ENSP00000341887.6:p.Met7064Val
ENST00000367251.7:c.1171A>G	ENSP00000356220.3:p.Met391Val
ENST00000367255.9:c.22405A>G	ENSP00000356224.5:p.Met7469Val
ENST00000367256.9:n.6097A>G
ENST00000367257.8:c.343A>G	ENSP00000356226.4:p.Met115Val
ENST00000409694.6:n.5989A>G
ENST00000423061.5:c.22192A>G	ENSP00000396024.1:p.Met7398Val
NM_033071.3:c.22192A>G	NP_149062.1:p.Met7398Val
NM_182961.3:c.22405A>G	NP_892006.3:p.Met7469Val
XM_006715407.1:c.22441A>G	XP_006715470.1:p.Met7481Val
XM_006715408.1:c.22429A>G	XP_006715471.1:p.Met7477Val
XM_006715409.1:c.22420A>G	XP_006715472.1:p.Met7474Val
XM_006715410.1:c.22441A>G	XP_006715473.1:p.Met7481Val
XM_006715411.1:c.22390A>G	XP_006715474.1:p.Met7464Val
XM_006715412.1:c.22426A>G	XP_006715475.1:p.Met7476Val
XM_006715413.1:c.22441A>G	XP_006715476.1:p.Met7481Val
XM_006715414.1:c.22369A>G	XP_006715477.1:p.Met7457Val
XM_006715415.1:c.22441A>G	XP_006715478.1:p.Met7481Val
XM_006715416.1:c.22426A>G	XP_006715479.1:p.Met7476Val
XM_006715417.1:c.22300A>G	XP_006715480.1:p.Met7434Val
XM_006715420.1:c.22288A>G	XP_006715483.1:p.Met7430Val
XM_006715421.1:c.22285A>G	XP_006715484.1:p.Met7429Val
XM_006715422.1:c.22282A>G	XP_006715485.1:p.Met7428Val
XM_006715423.1:c.22441A>G	XP_006715486.1:p.Met7481Val
XM_006715424.1:c.22441A>G	XP_006715487.1:p.Met7481Val
XM_006715425.1:c.22441A>G	XP_006715488.1:p.Met7481Val
XM_011535641.1:c.22438A>G	XP_011533943.1:p.Met7480Val
XM_011535642.1:c.22426A>G	XP_011533944.1:p.Met7476Val
XM_011535643.1:c.22276A>G	XP_011533945.1:p.Met7426Val
XM_011535644.1:c.20716A>G	XP_011533946.1:p.Met6906Val
XM_011535645.1:c.20209A>G	XP_011533947.1:p.Met6737Val
XM_011535647.1:c.15676A>G	XP_011533949.1:p.Met5226Val
XM_006715408.2:c.22429A>G	XP_006715471.1:p.Met7477Val
XM_006715410.2:c.22441A>G	XP_006715473.1:p.Met7481Val
XM_006715412.2:c.22426A>G	XP_006715475.1:p.Met7476Val
XM_006715413.2:c.22441A>G	XP_006715476.1:p.Met7481Val
XM_006715415.2:c.22441A>G	XP_006715478.1:p.Met7481Val
XM_006715416.2:c.22426A>G	XP_006715479.1:p.Met7476Val
XM_006715417.2:c.22300A>G	XP_006715480.1:p.Met7434Val
XM_006715420.2:c.22288A>G	XP_006715483.1:p.Met7430Val
XM_006715421.2:c.22285A>G	XP_006715484.1:p.Met7429Val
XM_006715423.2:c.22441A>G	XP_006715486.1:p.Met7481Val
XM_006715424.2:c.22441A>G	XP_006715487.1:p.Met7481Val
XM_006715425.2:c.22441A>G	XP_006715488.1:p.Met7481Val
XM_011535641.2:c.22438A>G	XP_011533943.1:p.Met7480Val
XM_011535642.2:c.22426A>G	XP_011533944.1:p.Met7476Val
XM_011535645.2:c.20209A>G	XP_011533947.1:p.Met6737Val
XM_017010608.1:c.22441A>G	XP_016866097.1:p.Met7481Val
XM_017010609.1:c.22441A>G	XP_016866098.1:p.Met7481Val
XM_017010610.1:c.22420A>G	XP_016866099.1:p.Met7474Val
XM_017010611.2:c.22414A>G	XP_016866100.1:p.Met7472Val
XM_017010612.1:c.22363A>G	XP_016866101.1:p.Met7455Val
XM_017010613.1:c.22438A>G	XP_016866102.1:p.Met7480Val
XM_017010614.1:c.22285A>G	XP_016866103.1:p.Met7429Val
XM_017010615.1:c.22285A>G	XP_016866104.1:p.Met7429Val
XM_017010616.1:c.22441A>G	XP_016866105.1:p.Met7481Val
XM_017010617.1:c.22438A>G	XP_016866106.1:p.Met7480Val
XM_017010618.1:c.22426A>G	XP_016866107.1:p.Met7476Val
XM_017010619.1:c.20716A>G	XP_016866108.1:p.Met6906Val
NM_182961.4:c.22405A>G MANE Select	NP_892006.3:p.Met7469Val
NM_033071.5:c.22192A>G	NP_149062.2:p.Met7398Val