Canonical Allele Identifier: CA452748497

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152534873T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213738T>G , CM000668.2:g.152213738T>G	GRCh38
NC_000006.11:g.152534873T>G , CM000668.1:g.152534873T>G	GRCh37
NC_000006.10:g.152576566T>G	NCBI36
NG_012855.1:g.428662A>C
NG_012855.2:g.428662A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22368A>C MANE Select	ENSP00000356224.5:p.Leu7456=
ENST00000423061.6:c.22155A>C	ENSP00000396024.1:p.Leu7385=
ENST00000341594.9:c.21153A>C	ENSP00000341887.6:p.Leu7051=
ENST00000367251.7:c.1134A>C	ENSP00000356220.3:p.Leu378=
ENST00000367255.9:c.22368A>C	ENSP00000356224.5:p.Leu7456=
ENST00000367256.9:n.6060A>C
ENST00000367257.8:c.306A>C	ENSP00000356226.4:p.Leu102=
ENST00000409694.6:n.5952A>C
ENST00000423061.5:c.22155A>C	ENSP00000396024.1:p.Leu7385=
NM_033071.3:c.22155A>C	NP_149062.1:p.Leu7385=
NM_182961.3:c.22368A>C	NP_892006.3:p.Leu7456=
XM_006715407.1:c.22404A>C	XP_006715470.1:p.Leu7468=
XM_006715408.1:c.22392A>C	XP_006715471.1:p.Leu7464=
XM_006715409.1:c.22383A>C	XP_006715472.1:p.Leu7461=
XM_006715410.1:c.22404A>C	XP_006715473.1:p.Leu7468=
XM_006715411.1:c.22353A>C	XP_006715474.1:p.Leu7451=
XM_006715412.1:c.22389A>C	XP_006715475.1:p.Leu7463=
XM_006715413.1:c.22404A>C	XP_006715476.1:p.Leu7468=
XM_006715414.1:c.22332A>C	XP_006715477.1:p.Leu7444=
XM_006715415.1:c.22404A>C	XP_006715478.1:p.Leu7468=
XM_006715416.1:c.22389A>C	XP_006715479.1:p.Leu7463=
XM_006715417.1:c.22263A>C	XP_006715480.1:p.Leu7421=
XM_006715420.1:c.22251A>C	XP_006715483.1:p.Leu7417=
XM_006715421.1:c.22248A>C	XP_006715484.1:p.Leu7416=
XM_006715422.1:c.22245A>C	XP_006715485.1:p.Leu7415=
XM_006715423.1:c.22404A>C	XP_006715486.1:p.Leu7468=
XM_006715424.1:c.22404A>C	XP_006715487.1:p.Leu7468=
XM_006715425.1:c.22404A>C	XP_006715488.1:p.Leu7468=
XM_011535641.1:c.22401A>C	XP_011533943.1:p.Leu7467=
XM_011535642.1:c.22389A>C	XP_011533944.1:p.Leu7463=
XM_011535643.1:c.22239A>C	XP_011533945.1:p.Leu7413=
XM_011535644.1:c.20679A>C	XP_011533946.1:p.Leu6893=
XM_011535645.1:c.20172A>C	XP_011533947.1:p.Leu6724=
XM_011535647.1:c.15639A>C	XP_011533949.1:p.Leu5213=
XM_006715408.2:c.22392A>C	XP_006715471.1:p.Leu7464=
XM_006715410.2:c.22404A>C	XP_006715473.1:p.Leu7468=
XM_006715412.2:c.22389A>C	XP_006715475.1:p.Leu7463=
XM_006715413.2:c.22404A>C	XP_006715476.1:p.Leu7468=
XM_006715415.2:c.22404A>C	XP_006715478.1:p.Leu7468=
XM_006715416.2:c.22389A>C	XP_006715479.1:p.Leu7463=
XM_006715417.2:c.22263A>C	XP_006715480.1:p.Leu7421=
XM_006715420.2:c.22251A>C	XP_006715483.1:p.Leu7417=
XM_006715421.2:c.22248A>C	XP_006715484.1:p.Leu7416=
XM_006715423.2:c.22404A>C	XP_006715486.1:p.Leu7468=
XM_006715424.2:c.22404A>C	XP_006715487.1:p.Leu7468=
XM_006715425.2:c.22404A>C	XP_006715488.1:p.Leu7468=
XM_011535641.2:c.22401A>C	XP_011533943.1:p.Leu7467=
XM_011535642.2:c.22389A>C	XP_011533944.1:p.Leu7463=
XM_011535645.2:c.20172A>C	XP_011533947.1:p.Leu6724=
XM_017010608.1:c.22404A>C	XP_016866097.1:p.Leu7468=
XM_017010609.1:c.22404A>C	XP_016866098.1:p.Leu7468=
XM_017010610.1:c.22383A>C	XP_016866099.1:p.Leu7461=
XM_017010611.2:c.22377A>C	XP_016866100.1:p.Leu7459=
XM_017010612.1:c.22326A>C	XP_016866101.1:p.Leu7442=
XM_017010613.1:c.22401A>C	XP_016866102.1:p.Leu7467=
XM_017010614.1:c.22248A>C	XP_016866103.1:p.Leu7416=
XM_017010615.1:c.22248A>C	XP_016866104.1:p.Leu7416=
XM_017010616.1:c.22404A>C	XP_016866105.1:p.Leu7468=
XM_017010617.1:c.22401A>C	XP_016866106.1:p.Leu7467=
XM_017010618.1:c.22389A>C	XP_016866107.1:p.Leu7463=
XM_017010619.1:c.20679A>C	XP_016866108.1:p.Leu6893=
NM_182961.4:c.22368A>C MANE Select	NP_892006.3:p.Leu7456=
NM_033071.5:c.22155A>C	NP_149062.2:p.Leu7385=