Canonical Allele Identifier: CA245825

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 197576
• ClinVar RCV Id: RCV000265036 ; RCV000329471 ; RCV000724200 ; RCV001089311
• dbSNP Id: rs183683592
• ExAC: 6:152722482 T / C
• gnomAD v2: 6-152722482-T-C
• gnomAD v3: 6-152401347-T-C
• gnomAD v4: 6-152401347-T-C
• MyVariant Identifiers: chr6:g.152722482T>C (hg19) ; chr6:g.152401347T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152401347T>C , CM000668.2:g.152401347T>C	GRCh38
NC_000006.11:g.152722482T>C , CM000668.1:g.152722482T>C	GRCh37
NC_000006.10:g.152764175T>C	NCBI36
NG_012855.1:g.241053A>G
NG_012855.2:g.241053A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.6826-6A>G MANE Select	ENSP00000356224.5:n.6826-6A>G
ENST00000423061.6:c.6847-6A>G	ENSP00000396024.1:n.6847-6A>G
ENST00000341594.9:c.6886-6A>G	ENSP00000341887.6:n.6886-6A>G
ENST00000367255.9:c.6826-6A>G	ENSP00000356224.5:n.6826-6A>G
ENST00000423061.5:c.6847-6A>G	ENSP00000396024.1:n.6847-6A>G
ENST00000461872.6:n.7044-6A>G
ENST00000535081.1:n.523-6A>G
NM_033071.3:c.6847-6A>G	NP_149062.1:n.6847-6A>G
NM_182961.3:c.6826-6A>G	NP_892006.3:n.6826-6A>G
XM_006715407.1:c.6847-6A>G	XP_006715470.1:n.6847-6A>G
XM_006715408.1:c.6847-6A>G	XP_006715471.1:n.6847-6A>G
XM_006715409.1:c.6826-6A>G	XP_006715472.1:n.6826-6A>G
XM_006715410.1:c.6847-6A>G	XP_006715473.1:n.6847-6A>G
XM_006715411.1:c.6796-6A>G	XP_006715474.1:n.6796-6A>G
XM_006715412.1:c.6847-6A>G	XP_006715475.1:n.6847-6A>G
XM_006715413.1:c.6847-6A>G	XP_006715476.1:n.6847-6A>G
XM_006715414.1:c.6775-6A>G	XP_006715477.1:n.6775-6A>G
XM_006715415.1:c.6847-6A>G	XP_006715478.1:n.6847-6A>G
XM_006715416.1:c.6847-6A>G	XP_006715479.1:n.6847-6A>G
XM_006715417.1:c.6847-6A>G	XP_006715480.1:n.6847-6A>G
XM_006715420.1:c.6847-6A>G	XP_006715483.1:n.6847-6A>G
XM_006715421.1:c.6847-6A>G	XP_006715484.1:n.6847-6A>G
XM_006715422.1:c.6688-6A>G	XP_006715485.1:n.6688-6A>G
XM_006715423.1:c.6847-6A>G	XP_006715486.1:n.6847-6A>G
XM_006715424.1:c.6847-6A>G	XP_006715487.1:n.6847-6A>G
XM_006715425.1:c.6847-6A>G	XP_006715488.1:n.6847-6A>G
XM_011535641.1:c.6847-6A>G	XP_011533943.1:n.6847-6A>G
XM_011535642.1:c.6847-6A>G	XP_011533944.1:n.6847-6A>G
XM_011535643.1:c.6682-6A>G	XP_011533945.1:n.6682-6A>G
XM_011535644.1:c.5122-6A>G	XP_011533946.1:n.5122-6A>G
XM_011535645.1:c.4615-6A>G	XP_011533947.1:n.4615-6A>G
XM_011535646.1:c.6847-6A>G	XP_011533948.1:n.6847-6A>G
XM_011535647.1:c.82-6A>G	XP_011533949.1:n.82-6A>G
XM_006715408.2:c.6847-6A>G	XP_006715471.1:n.6847-6A>G
XM_006715410.2:c.6847-6A>G	XP_006715473.1:n.6847-6A>G
XM_006715412.2:c.6847-6A>G	XP_006715475.1:n.6847-6A>G
XM_006715413.2:c.6847-6A>G	XP_006715476.1:n.6847-6A>G
XM_006715415.2:c.6847-6A>G	XP_006715478.1:n.6847-6A>G
XM_006715416.2:c.6847-6A>G	XP_006715479.1:n.6847-6A>G
XM_006715417.2:c.6847-6A>G	XP_006715480.1:n.6847-6A>G
XM_006715420.2:c.6847-6A>G	XP_006715483.1:n.6847-6A>G
XM_006715421.2:c.6847-6A>G	XP_006715484.1:n.6847-6A>G
XM_006715423.2:c.6847-6A>G	XP_006715486.1:n.6847-6A>G
XM_006715424.2:c.6847-6A>G	XP_006715487.1:n.6847-6A>G
XM_006715425.2:c.6847-6A>G	XP_006715488.1:n.6847-6A>G
XM_011535641.2:c.6847-6A>G	XP_011533943.1:n.6847-6A>G
XM_011535642.2:c.6847-6A>G	XP_011533944.1:n.6847-6A>G
XM_011535645.2:c.4615-6A>G	XP_011533947.1:n.4615-6A>G
XM_017010608.1:c.6847-6A>G	XP_016866097.1:n.6847-6A>G
XM_017010609.1:c.6847-6A>G	XP_016866098.1:n.6847-6A>G
XM_017010610.1:c.6826-6A>G	XP_016866099.1:n.6826-6A>G
XM_017010611.2:c.6820-6A>G	XP_016866100.1:n.6820-6A>G
XM_017010612.1:c.6769-6A>G	XP_016866101.1:n.6769-6A>G
XM_017010613.1:c.6847-6A>G	XP_016866102.1:n.6847-6A>G
XM_017010614.1:c.6847-6A>G	XP_016866103.1:n.6847-6A>G
XM_017010615.1:c.6847-6A>G	XP_016866104.1:n.6847-6A>G
XM_017010616.1:c.6847-6A>G	XP_016866105.1:n.6847-6A>G
XM_017010617.1:c.6847-6A>G	XP_016866106.1:n.6847-6A>G
XM_017010618.1:c.6847-6A>G	XP_016866107.1:n.6847-6A>G
XM_017010619.1:c.5122-6A>G	XP_016866108.1:n.5122-6A>G
XR_001743287.1:n.7330-6A>G
NM_182961.4:c.6826-6A>G MANE Select	NP_892006.3:n.6826-6A>G
NM_033071.5:c.6847-6A>G	NP_149062.2:n.6847-6A>G