Canonical Allele Identifier: CA452969883

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461187G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140052G>A , CM000668.2:g.152140052G>A	GRCh38
NC_000006.11:g.152461187G>A , CM000668.1:g.152461187G>A	GRCh37
NC_000006.10:g.152502880G>A	NCBI36
NG_012855.1:g.502348C>T
NG_012855.2:g.502348C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1890C>T MANE Plus Clinical	ENSP00000346701.4:p.Ile630=
ENST00000367255.10:c.25356C>T MANE Select	ENSP00000356224.5:p.Ile8452=
ENST00000423061.6:c.25212C>T	ENSP00000396024.1:p.Ile8404=
ENST00000672154.1:c.758C>T
ENST00000672169.1:c.1091C>T
ENST00000673173.1:c.1000C>T
ENST00000673451.1:c.1128C>T	ENSP00000500189.1:p.Ile376=
ENST00000341594.9:c.24141C>T	ENSP00000341887.6:p.Ile8047=
ENST00000347037.9:n.2104C>T
ENST00000354674.4:c.1890C>T	ENSP00000346701.4:p.Ile630=
ENST00000367251.7:c.4191C>T	ENSP00000356220.3:p.Ile1397=
ENST00000367255.9:c.25356C>T	ENSP00000356224.5:p.Ile8452=
ENST00000367256.9:n.9048C>T
ENST00000367257.8:c.3294C>T	ENSP00000356226.4:p.Ile1098=
ENST00000409694.6:n.8940C>T
ENST00000423061.5:c.25212C>T	ENSP00000396024.1:p.Ile8404=
ENST00000460912.6:n.1970C>T
ENST00000478916.5:n.4378C>T
ENST00000536990.5:n.2193C>T
ENST00000539504.5:c.1821C>T	ENSP00000441052.1:p.Ile607=
NM_033071.3:c.25212C>T	NP_149062.1:p.Ile8404=
NM_182961.3:c.25356C>T	NP_892006.3:p.Ile8452=
XM_006715407.1:c.25461C>T	XP_006715470.1:p.Ile8487=
XM_006715408.1:c.25449C>T	XP_006715471.1:p.Ile8483=
XM_006715409.1:c.25440C>T	XP_006715472.1:p.Ile8480=
XM_006715410.1:c.25461C>T	XP_006715473.1:p.Ile8487=
XM_006715411.1:c.25410C>T	XP_006715474.1:p.Ile8470=
XM_006715412.1:c.25446C>T	XP_006715475.1:p.Ile8482=
XM_006715413.1:c.25392C>T	XP_006715476.1:p.Ile8464=
XM_006715414.1:c.25389C>T	XP_006715477.1:p.Ile8463=
XM_006715415.1:c.25392C>T	XP_006715478.1:p.Ile8464=
XM_006715416.1:c.25377C>T	XP_006715479.1:p.Ile8459=
XM_006715417.1:c.25320C>T	XP_006715480.1:p.Ile8440=
XM_006715420.1:c.25308C>T	XP_006715483.1:p.Ile8436=
XM_006715421.1:c.25305C>T	XP_006715484.1:p.Ile8435=
XM_006715422.1:c.25302C>T	XP_006715485.1:p.Ile8434=
XM_006715423.1:c.25461C>T	XP_006715486.1:p.Ile8487=
XM_006715424.1:c.25461C>T	XP_006715487.1:p.Ile8487=
XM_006715425.1:c.25392C>T	XP_006715488.1:p.Ile8464=
XM_011535641.1:c.25458C>T	XP_011533943.1:p.Ile8486=
XM_011535642.1:c.25446C>T	XP_011533944.1:p.Ile8482=
XM_011535643.1:c.25296C>T	XP_011533945.1:p.Ile8432=
XM_011535644.1:c.23736C>T	XP_011533946.1:p.Ile7912=
XM_011535645.1:c.23229C>T	XP_011533947.1:p.Ile7743=
XM_011535647.1:c.18696C>T	XP_011533949.1:p.Ile6232=
NM_001347701.1:c.1962C>T	NP_001334630.1:p.Ile654=
NM_001347702.1:c.1890C>T	NP_001334631.1:p.Ile630=
XM_006715408.2:c.25449C>T	XP_006715471.1:p.Ile8483=
XM_006715410.2:c.25461C>T	XP_006715473.1:p.Ile8487=
XM_006715412.2:c.25446C>T	XP_006715475.1:p.Ile8482=
XM_006715413.2:c.25392C>T	XP_006715476.1:p.Ile8464=
XM_006715415.2:c.25392C>T	XP_006715478.1:p.Ile8464=
XM_006715416.2:c.25377C>T	XP_006715479.1:p.Ile8459=
XM_006715417.2:c.25320C>T	XP_006715480.1:p.Ile8440=
XM_006715420.2:c.25308C>T	XP_006715483.1:p.Ile8436=
XM_006715421.2:c.25305C>T	XP_006715484.1:p.Ile8435=
XM_006715423.2:c.25461C>T	XP_006715486.1:p.Ile8487=
XM_006715424.2:c.25461C>T	XP_006715487.1:p.Ile8487=
XM_006715425.2:c.25392C>T	XP_006715488.1:p.Ile8464=
XM_011535641.2:c.25458C>T	XP_011533943.1:p.Ile8486=
XM_011535642.2:c.25446C>T	XP_011533944.1:p.Ile8482=
XM_011535645.2:c.23229C>T	XP_011533947.1:p.Ile7743=
XM_017010608.1:c.25461C>T	XP_016866097.1:p.Ile8487=
XM_017010609.1:c.25461C>T	XP_016866098.1:p.Ile8487=
XM_017010610.1:c.25440C>T	XP_016866099.1:p.Ile8480=
XM_017010611.2:c.25434C>T	XP_016866100.1:p.Ile8478=
XM_017010612.1:c.25383C>T	XP_016866101.1:p.Ile8461=
XM_017010613.1:c.25389C>T	XP_016866102.1:p.Ile8463=
XM_017010614.1:c.25305C>T	XP_016866103.1:p.Ile8435=
XM_017010615.1:c.25236C>T	XP_016866104.1:p.Ile8412=
XM_017010616.1:c.25392C>T	XP_016866105.1:p.Ile8464=
XM_017010617.1:c.25389C>T	XP_016866106.1:p.Ile8463=
XM_017010618.1:c.25377C>T	XP_016866107.1:p.Ile8459=
XM_017010619.1:c.23736C>T	XP_016866108.1:p.Ile7912=
NM_182961.4:c.25356C>T MANE Select	NP_892006.3:p.Ile8452=
NM_001347701.2:c.1962C>T	NP_001334630.1:p.Ile654=
NM_001347702.2:c.1890C>T MANE Plus Clinical	NP_001334631.1:p.Ile630=
NM_033071.5:c.25212C>T	NP_149062.2:p.Ile8404=