Canonical Allele Identifier: CA4053999

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 281278
• ClinVar RCV Id: RCV000332066 ; RCV000724834 ; RCV001079056 ; RCV001331541
• dbSNP Id: rs151247098
• ExAC: 6:152540187 T / G
• gnomAD v2: 6-152540187-T-G
• gnomAD v3: 6-152219052-T-G
• gnomAD v4: 6-152219052-T-G
• MyVariant Identifiers: chr6:g.152540187T>G (hg19) ; chr6:g.152219052T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152219052T>G , CM000668.2:g.152219052T>G	GRCh38
NC_000006.11:g.152540187T>G , CM000668.1:g.152540187T>G	GRCh37
NC_000006.10:g.152581880T>G	NCBI36
NG_012855.1:g.423348A>C
NG_012855.2:g.423348A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.21995A>C MANE Select	ENSP00000356224.5:p.His7332Pro
ENST00000423061.6:c.21782A>C	ENSP00000396024.1:p.His7261Pro
ENST00000341594.9:c.20780A>C	ENSP00000341887.6:p.His6927Pro
ENST00000367251.7:c.761A>C	ENSP00000356220.3:p.His254Pro
ENST00000367255.9:c.21995A>C	ENSP00000356224.5:p.His7332Pro
ENST00000367256.9:n.5687A>C
ENST00000409694.6:n.5579A>C
ENST00000423061.5:c.21782A>C	ENSP00000396024.1:p.His7261Pro
NM_033071.3:c.21782A>C	NP_149062.1:p.His7261Pro
NM_182961.3:c.21995A>C	NP_892006.3:p.His7332Pro
XM_006715407.1:c.22031A>C	XP_006715470.1:p.His7344Pro
XM_006715408.1:c.22019A>C	XP_006715471.1:p.His7340Pro
XM_006715409.1:c.22010A>C	XP_006715472.1:p.His7337Pro
XM_006715410.1:c.22031A>C	XP_006715473.1:p.His7344Pro
XM_006715411.1:c.21980A>C	XP_006715474.1:p.His7327Pro
XM_006715412.1:c.22016A>C	XP_006715475.1:p.His7339Pro
XM_006715413.1:c.22031A>C	XP_006715476.1:p.His7344Pro
XM_006715414.1:c.21959A>C	XP_006715477.1:p.His7320Pro
XM_006715415.1:c.22031A>C	XP_006715478.1:p.His7344Pro
XM_006715416.1:c.22016A>C	XP_006715479.1:p.His7339Pro
XM_006715417.1:c.21890A>C	XP_006715480.1:p.His7297Pro
XM_006715420.1:c.21878A>C	XP_006715483.1:p.His7293Pro
XM_006715421.1:c.21875A>C	XP_006715484.1:p.His7292Pro
XM_006715422.1:c.21872A>C	XP_006715485.1:p.His7291Pro
XM_006715423.1:c.22031A>C	XP_006715486.1:p.His7344Pro
XM_006715424.1:c.22031A>C	XP_006715487.1:p.His7344Pro
XM_006715425.1:c.22031A>C	XP_006715488.1:p.His7344Pro
XM_011535641.1:c.22028A>C	XP_011533943.1:p.His7343Pro
XM_011535642.1:c.22016A>C	XP_011533944.1:p.His7339Pro
XM_011535643.1:c.21866A>C	XP_011533945.1:p.His7289Pro
XM_011535644.1:c.20306A>C	XP_011533946.1:p.His6769Pro
XM_011535645.1:c.19799A>C	XP_011533947.1:p.His6600Pro
XM_011535647.1:c.15266A>C	XP_011533949.1:p.His5089Pro
XM_006715408.2:c.22019A>C	XP_006715471.1:p.His7340Pro
XM_006715410.2:c.22031A>C	XP_006715473.1:p.His7344Pro
XM_006715412.2:c.22016A>C	XP_006715475.1:p.His7339Pro
XM_006715413.2:c.22031A>C	XP_006715476.1:p.His7344Pro
XM_006715415.2:c.22031A>C	XP_006715478.1:p.His7344Pro
XM_006715416.2:c.22016A>C	XP_006715479.1:p.His7339Pro
XM_006715417.2:c.21890A>C	XP_006715480.1:p.His7297Pro
XM_006715420.2:c.21878A>C	XP_006715483.1:p.His7293Pro
XM_006715421.2:c.21875A>C	XP_006715484.1:p.His7292Pro
XM_006715423.2:c.22031A>C	XP_006715486.1:p.His7344Pro
XM_006715424.2:c.22031A>C	XP_006715487.1:p.His7344Pro
XM_006715425.2:c.22031A>C	XP_006715488.1:p.His7344Pro
XM_011535641.2:c.22028A>C	XP_011533943.1:p.His7343Pro
XM_011535642.2:c.22016A>C	XP_011533944.1:p.His7339Pro
XM_011535645.2:c.19799A>C	XP_011533947.1:p.His6600Pro
XM_017010608.1:c.22031A>C	XP_016866097.1:p.His7344Pro
XM_017010609.1:c.22031A>C	XP_016866098.1:p.His7344Pro
XM_017010610.1:c.22010A>C	XP_016866099.1:p.His7337Pro
XM_017010611.2:c.22004A>C	XP_016866100.1:p.His7335Pro
XM_017010612.1:c.21953A>C	XP_016866101.1:p.His7318Pro
XM_017010613.1:c.22028A>C	XP_016866102.1:p.His7343Pro
XM_017010614.1:c.21875A>C	XP_016866103.1:p.His7292Pro
XM_017010615.1:c.21875A>C	XP_016866104.1:p.His7292Pro
XM_017010616.1:c.22031A>C	XP_016866105.1:p.His7344Pro
XM_017010617.1:c.22028A>C	XP_016866106.1:p.His7343Pro
XM_017010618.1:c.22016A>C	XP_016866107.1:p.His7339Pro
XM_017010619.1:c.20306A>C	XP_016866108.1:p.His6769Pro
NM_182961.4:c.21995A>C MANE Select	NP_892006.3:p.His7332Pro
NM_033071.5:c.21782A>C	NP_149062.2:p.His7261Pro