Canonical Allele Identifier: CA366080849

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461260G>A (hg19) ; chr6:g.152140125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140125G>A , CM000668.2:g.152140125G>A	GRCh38
NC_000006.11:g.152461260G>A , CM000668.1:g.152461260G>A	GRCh37
NC_000006.10:g.152502953G>A	NCBI36
NG_012855.1:g.502275C>T
NG_012855.2:g.502275C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1817C>T MANE Plus Clinical	ENSP00000346701.4:p.Ala606Val
ENST00000367255.10:c.25283C>T MANE Select	ENSP00000356224.5:p.Ala8428Val
ENST00000423061.6:c.25139C>T	ENSP00000396024.1:p.Ala8380Val
ENST00000672154.1:c.685C>T
ENST00000672169.1:c.1018C>T
ENST00000673173.1:c.927C>T
ENST00000673451.1:c.1055C>T	ENSP00000500189.1:p.Ala352Val
ENST00000341594.9:c.24068C>T	ENSP00000341887.6:p.Ala8023Val
ENST00000347037.9:n.2031C>T
ENST00000354674.4:c.1817C>T	ENSP00000346701.4:p.Ala606Val
ENST00000367251.7:c.4118C>T	ENSP00000356220.3:p.Ala1373Val
ENST00000367255.9:c.25283C>T	ENSP00000356224.5:p.Ala8428Val
ENST00000367256.9:n.8975C>T
ENST00000367257.8:c.3221C>T	ENSP00000356226.4:p.Ala1074Val
ENST00000409694.6:n.8867C>T
ENST00000423061.5:c.25139C>T	ENSP00000396024.1:p.Ala8380Val
ENST00000460912.6:n.1897C>T
ENST00000478916.5:n.4305C>T
ENST00000536990.5:n.2120C>T
ENST00000539504.5:c.1748C>T	ENSP00000441052.1:p.Ala583Val
NM_033071.3:c.25139C>T	NP_149062.1:p.Ala8380Val
NM_182961.3:c.25283C>T	NP_892006.3:p.Ala8428Val
XM_006715407.1:c.25388C>T	XP_006715470.1:p.Ala8463Val
XM_006715408.1:c.25376C>T	XP_006715471.1:p.Ala8459Val
XM_006715409.1:c.25367C>T	XP_006715472.1:p.Ala8456Val
XM_006715410.1:c.25388C>T	XP_006715473.1:p.Ala8463Val
XM_006715411.1:c.25337C>T	XP_006715474.1:p.Ala8446Val
XM_006715412.1:c.25373C>T	XP_006715475.1:p.Ala8458Val
XM_006715413.1:c.25319C>T	XP_006715476.1:p.Ala8440Val
XM_006715414.1:c.25316C>T	XP_006715477.1:p.Ala8439Val
XM_006715415.1:c.25319C>T	XP_006715478.1:p.Ala8440Val
XM_006715416.1:c.25304C>T	XP_006715479.1:p.Ala8435Val
XM_006715417.1:c.25247C>T	XP_006715480.1:p.Ala8416Val
XM_006715420.1:c.25235C>T	XP_006715483.1:p.Ala8412Val
XM_006715421.1:c.25232C>T	XP_006715484.1:p.Ala8411Val
XM_006715422.1:c.25229C>T	XP_006715485.1:p.Ala8410Val
XM_006715423.1:c.25388C>T	XP_006715486.1:p.Ala8463Val
XM_006715424.1:c.25388C>T	XP_006715487.1:p.Ala8463Val
XM_006715425.1:c.25319C>T	XP_006715488.1:p.Ala8440Val
XM_011535641.1:c.25385C>T	XP_011533943.1:p.Ala8462Val
XM_011535642.1:c.25373C>T	XP_011533944.1:p.Ala8458Val
XM_011535643.1:c.25223C>T	XP_011533945.1:p.Ala8408Val
XM_011535644.1:c.23663C>T	XP_011533946.1:p.Ala7888Val
XM_011535645.1:c.23156C>T	XP_011533947.1:p.Ala7719Val
XM_011535647.1:c.18623C>T	XP_011533949.1:p.Ala6208Val
NM_001347701.1:c.1889C>T	NP_001334630.1:p.Ala630Val
NM_001347702.1:c.1817C>T	NP_001334631.1:p.Ala606Val
XM_006715408.2:c.25376C>T	XP_006715471.1:p.Ala8459Val
XM_006715410.2:c.25388C>T	XP_006715473.1:p.Ala8463Val
XM_006715412.2:c.25373C>T	XP_006715475.1:p.Ala8458Val
XM_006715413.2:c.25319C>T	XP_006715476.1:p.Ala8440Val
XM_006715415.2:c.25319C>T	XP_006715478.1:p.Ala8440Val
XM_006715416.2:c.25304C>T	XP_006715479.1:p.Ala8435Val
XM_006715417.2:c.25247C>T	XP_006715480.1:p.Ala8416Val
XM_006715420.2:c.25235C>T	XP_006715483.1:p.Ala8412Val
XM_006715421.2:c.25232C>T	XP_006715484.1:p.Ala8411Val
XM_006715423.2:c.25388C>T	XP_006715486.1:p.Ala8463Val
XM_006715424.2:c.25388C>T	XP_006715487.1:p.Ala8463Val
XM_006715425.2:c.25319C>T	XP_006715488.1:p.Ala8440Val
XM_011535641.2:c.25385C>T	XP_011533943.1:p.Ala8462Val
XM_011535642.2:c.25373C>T	XP_011533944.1:p.Ala8458Val
XM_011535645.2:c.23156C>T	XP_011533947.1:p.Ala7719Val
XM_017010608.1:c.25388C>T	XP_016866097.1:p.Ala8463Val
XM_017010609.1:c.25388C>T	XP_016866098.1:p.Ala8463Val
XM_017010610.1:c.25367C>T	XP_016866099.1:p.Ala8456Val
XM_017010611.2:c.25361C>T	XP_016866100.1:p.Ala8454Val
XM_017010612.1:c.25310C>T	XP_016866101.1:p.Ala8437Val
XM_017010613.1:c.25316C>T	XP_016866102.1:p.Ala8439Val
XM_017010614.1:c.25232C>T	XP_016866103.1:p.Ala8411Val
XM_017010615.1:c.25163C>T	XP_016866104.1:p.Ala8388Val
XM_017010616.1:c.25319C>T	XP_016866105.1:p.Ala8440Val
XM_017010617.1:c.25316C>T	XP_016866106.1:p.Ala8439Val
XM_017010618.1:c.25304C>T	XP_016866107.1:p.Ala8435Val
XM_017010619.1:c.23663C>T	XP_016866108.1:p.Ala7888Val
NM_182961.4:c.25283C>T MANE Select	NP_892006.3:p.Ala8428Val
NM_001347701.2:c.1889C>T	NP_001334630.1:p.Ala630Val
NM_001347702.2:c.1817C>T MANE Plus Clinical	NP_001334631.1:p.Ala606Val
NM_033071.5:c.25139C>T	NP_149062.2:p.Ala8380Val