Canonical Allele Identifier: CA4053801

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 288395
• ClinVar RCV Id: RCV000322949 ; RCV000379988 ; RCV000726157 ; RCV000823678 ; RCV004535411
• dbSNP Id: rs146320179
• ExAC: 6:152529148 T / C
• gnomAD v2: 6-152529148-T-C
• gnomAD v3: 6-152208013-T-C
• gnomAD v4: 6-152208013-T-C
• MyVariant Identifiers: chr6:g.152529148T>C (hg19) ; chr6:g.152208013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152208013T>C , CM000668.2:g.152208013T>C	GRCh38
NC_000006.11:g.152529148T>C , CM000668.1:g.152529148T>C	GRCh37
NC_000006.10:g.152570841T>C	NCBI36
NG_012855.1:g.434387A>G
NG_012855.2:g.434387A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22783A>G MANE Select	ENSP00000356224.5:p.Ile7595Val
ENST00000423061.6:c.22570A>G	ENSP00000396024.1:p.Ile7524Val
ENST00000341594.9:c.21568A>G	ENSP00000341887.6:p.Ile7190Val
ENST00000367251.7:c.1549A>G	ENSP00000356220.3:p.Ile517Val
ENST00000367255.9:c.22783A>G	ENSP00000356224.5:p.Ile7595Val
ENST00000367256.9:n.6475A>G
ENST00000367257.8:c.721A>G	ENSP00000356226.4:p.Ile241Val
ENST00000409694.6:n.6367A>G
ENST00000423061.5:c.22570A>G	ENSP00000396024.1:p.Ile7524Val
NM_033071.3:c.22570A>G	NP_149062.1:p.Ile7524Val
NM_182961.3:c.22783A>G	NP_892006.3:p.Ile7595Val
XM_006715407.1:c.22819A>G	XP_006715470.1:p.Ile7607Val
XM_006715408.1:c.22807A>G	XP_006715471.1:p.Ile7603Val
XM_006715409.1:c.22798A>G	XP_006715472.1:p.Ile7600Val
XM_006715410.1:c.22819A>G	XP_006715473.1:p.Ile7607Val
XM_006715411.1:c.22768A>G	XP_006715474.1:p.Ile7590Val
XM_006715412.1:c.22804A>G	XP_006715475.1:p.Ile7602Val
XM_006715413.1:c.22819A>G	XP_006715476.1:p.Ile7607Val
XM_006715414.1:c.22747A>G	XP_006715477.1:p.Ile7583Val
XM_006715415.1:c.22819A>G	XP_006715478.1:p.Ile7607Val
XM_006715416.1:c.22804A>G	XP_006715479.1:p.Ile7602Val
XM_006715417.1:c.22678A>G	XP_006715480.1:p.Ile7560Val
XM_006715420.1:c.22666A>G	XP_006715483.1:p.Ile7556Val
XM_006715421.1:c.22663A>G	XP_006715484.1:p.Ile7555Val
XM_006715422.1:c.22660A>G	XP_006715485.1:p.Ile7554Val
XM_006715423.1:c.22819A>G	XP_006715486.1:p.Ile7607Val
XM_006715424.1:c.22819A>G	XP_006715487.1:p.Ile7607Val
XM_006715425.1:c.22819A>G	XP_006715488.1:p.Ile7607Val
XM_011535641.1:c.22816A>G	XP_011533943.1:p.Ile7606Val
XM_011535642.1:c.22804A>G	XP_011533944.1:p.Ile7602Val
XM_011535643.1:c.22654A>G	XP_011533945.1:p.Ile7552Val
XM_011535644.1:c.21094A>G	XP_011533946.1:p.Ile7032Val
XM_011535645.1:c.20587A>G	XP_011533947.1:p.Ile6863Val
XM_011535647.1:c.16054A>G	XP_011533949.1:p.Ile5352Val
XM_006715408.2:c.22807A>G	XP_006715471.1:p.Ile7603Val
XM_006715410.2:c.22819A>G	XP_006715473.1:p.Ile7607Val
XM_006715412.2:c.22804A>G	XP_006715475.1:p.Ile7602Val
XM_006715413.2:c.22819A>G	XP_006715476.1:p.Ile7607Val
XM_006715415.2:c.22819A>G	XP_006715478.1:p.Ile7607Val
XM_006715416.2:c.22804A>G	XP_006715479.1:p.Ile7602Val
XM_006715417.2:c.22678A>G	XP_006715480.1:p.Ile7560Val
XM_006715420.2:c.22666A>G	XP_006715483.1:p.Ile7556Val
XM_006715421.2:c.22663A>G	XP_006715484.1:p.Ile7555Val
XM_006715423.2:c.22819A>G	XP_006715486.1:p.Ile7607Val
XM_006715424.2:c.22819A>G	XP_006715487.1:p.Ile7607Val
XM_006715425.2:c.22819A>G	XP_006715488.1:p.Ile7607Val
XM_011535641.2:c.22816A>G	XP_011533943.1:p.Ile7606Val
XM_011535642.2:c.22804A>G	XP_011533944.1:p.Ile7602Val
XM_011535645.2:c.20587A>G	XP_011533947.1:p.Ile6863Val
XM_017010608.1:c.22819A>G	XP_016866097.1:p.Ile7607Val
XM_017010609.1:c.22819A>G	XP_016866098.1:p.Ile7607Val
XM_017010610.1:c.22798A>G	XP_016866099.1:p.Ile7600Val
XM_017010611.2:c.22792A>G	XP_016866100.1:p.Ile7598Val
XM_017010612.1:c.22741A>G	XP_016866101.1:p.Ile7581Val
XM_017010613.1:c.22816A>G	XP_016866102.1:p.Ile7606Val
XM_017010614.1:c.22663A>G	XP_016866103.1:p.Ile7555Val
XM_017010615.1:c.22663A>G	XP_016866104.1:p.Ile7555Val
XM_017010616.1:c.22819A>G	XP_016866105.1:p.Ile7607Val
XM_017010617.1:c.22816A>G	XP_016866106.1:p.Ile7606Val
XM_017010618.1:c.22804A>G	XP_016866107.1:p.Ile7602Val
XM_017010619.1:c.21094A>G	XP_016866108.1:p.Ile7032Val
NM_182961.4:c.22783A>G MANE Select	NP_892006.3:p.Ile7595Val
NM_033071.5:c.22570A>G	NP_149062.2:p.Ile7524Val