Canonical Allele Identifier: CA4057211

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 471061
• ClinVar RCV Id: RCV000539965
• dbSNP Id: rs780460827
• ExAC: 6:152690126 G / A
• gnomAD v2: 6-152690126-G-A
• gnomAD v3: 6-152368991-G-A
• gnomAD v4: 6-152368991-G-A
• MyVariant Identifiers: chr6:g.152690126G>A (hg19) ; chr6:g.152368991G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152368991G>A , CM000668.2:g.152368991G>A	GRCh38
NC_000006.11:g.152690126G>A , CM000668.1:g.152690126G>A	GRCh37
NC_000006.10:g.152731819G>A	NCBI36
NG_012855.1:g.273409C>T
NG_012855.2:g.273409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454018.7:c.1139C>T	ENSP00000390858.4:p.Ala380Val
ENST00000367255.10:c.9788C>T MANE Select	ENSP00000356224.5:p.Ala3263Val
ENST00000423061.6:c.9809C>T	ENSP00000396024.1:p.Ala3270Val
ENST00000341594.9:c.9854C>T	ENSP00000341887.6:p.Ala3285Val
ENST00000367255.9:c.9788C>T	ENSP00000356224.5:p.Ala3263Val
ENST00000423061.5:c.9809C>T	ENSP00000396024.1:p.Ala3270Val
ENST00000454018.6:c.1136C>T	ENSP00000390858.3:p.Ala379Val
ENST00000469439.1:c.244+480C>T
ENST00000471834.1:n.1337C>T
NM_033071.3:c.9809C>T	NP_149062.1:p.Ala3270Val
NM_182961.3:c.9788C>T	NP_892006.3:p.Ala3263Val
XM_006715407.1:c.9809C>T	XP_006715470.1:p.Ala3270Val
XM_006715408.1:c.9809C>T	XP_006715471.1:p.Ala3270Val
XM_006715409.1:c.9788C>T	XP_006715472.1:p.Ala3263Val
XM_006715410.1:c.9809C>T	XP_006715473.1:p.Ala3270Val
XM_006715411.1:c.9758C>T	XP_006715474.1:p.Ala3253Val
XM_006715412.1:c.9809C>T	XP_006715475.1:p.Ala3270Val
XM_006715413.1:c.9809C>T	XP_006715476.1:p.Ala3270Val
XM_006715414.1:c.9737C>T	XP_006715477.1:p.Ala3246Val
XM_006715415.1:c.9809C>T	XP_006715478.1:p.Ala3270Val
XM_006715416.1:c.9809C>T	XP_006715479.1:p.Ala3270Val
XM_006715417.1:c.9809C>T	XP_006715480.1:p.Ala3270Val
XM_006715420.1:c.9809C>T	XP_006715483.1:p.Ala3270Val
XM_006715421.1:c.9672+480C>T	XP_006715484.1:n.9672+480C>T
XM_006715422.1:c.9650C>T	XP_006715485.1:p.Ala3217Val
XM_006715423.1:c.9809C>T	XP_006715486.1:p.Ala3270Val
XM_006715424.1:c.9809C>T	XP_006715487.1:p.Ala3270Val
XM_006715425.1:c.9809C>T	XP_006715488.1:p.Ala3270Val
XM_011535641.1:c.9809C>T	XP_011533943.1:p.Ala3270Val
XM_011535642.1:c.9809C>T	XP_011533944.1:p.Ala3270Val
XM_011535643.1:c.9644C>T	XP_011533945.1:p.Ala3215Val
XM_011535644.1:c.8084C>T	XP_011533946.1:p.Ala2695Val
XM_011535645.1:c.7577C>T	XP_011533947.1:p.Ala2526Val
XM_011535646.1:c.9809C>T	XP_011533948.1:p.Ala3270Val
XM_011535647.1:c.3044C>T	XP_011533949.1:p.Ala1015Val
XM_006715408.2:c.9809C>T	XP_006715471.1:p.Ala3270Val
XM_006715410.2:c.9809C>T	XP_006715473.1:p.Ala3270Val
XM_006715412.2:c.9809C>T	XP_006715475.1:p.Ala3270Val
XM_006715413.2:c.9809C>T	XP_006715476.1:p.Ala3270Val
XM_006715415.2:c.9809C>T	XP_006715478.1:p.Ala3270Val
XM_006715416.2:c.9809C>T	XP_006715479.1:p.Ala3270Val
XM_006715417.2:c.9809C>T	XP_006715480.1:p.Ala3270Val
XM_006715420.2:c.9809C>T	XP_006715483.1:p.Ala3270Val
XM_006715421.2:c.9672+480C>T	XP_006715484.1:n.9672+480C>T
XM_006715423.2:c.9809C>T	XP_006715486.1:p.Ala3270Val
XM_006715424.2:c.9809C>T	XP_006715487.1:p.Ala3270Val
XM_006715425.2:c.9809C>T	XP_006715488.1:p.Ala3270Val
XM_011535641.2:c.9809C>T	XP_011533943.1:p.Ala3270Val
XM_011535642.2:c.9809C>T	XP_011533944.1:p.Ala3270Val
XM_011535645.2:c.7577C>T	XP_011533947.1:p.Ala2526Val
XM_017010608.1:c.9809C>T	XP_016866097.1:p.Ala3270Val
XM_017010609.1:c.9809C>T	XP_016866098.1:p.Ala3270Val
XM_017010610.1:c.9788C>T	XP_016866099.1:p.Ala3263Val
XM_017010611.2:c.9782C>T	XP_016866100.1:p.Ala3261Val
XM_017010612.1:c.9731C>T	XP_016866101.1:p.Ala3244Val
XM_017010613.1:c.9809C>T	XP_016866102.1:p.Ala3270Val
XM_017010614.1:c.9809C>T	XP_016866103.1:p.Ala3270Val
XM_017010615.1:c.9809C>T	XP_016866104.1:p.Ala3270Val
XM_017010616.1:c.9809C>T	XP_016866105.1:p.Ala3270Val
XM_017010617.1:c.9809C>T	XP_016866106.1:p.Ala3270Val
XM_017010618.1:c.9809C>T	XP_016866107.1:p.Ala3270Val
XM_017010619.1:c.8084C>T	XP_016866108.1:p.Ala2695Val
XR_001743287.1:n.10292C>T
NM_182961.4:c.9788C>T MANE Select	NP_892006.3:p.Ala3263Val
NM_033071.5:c.9809C>T	NP_149062.2:p.Ala3270Val