Canonical Allele Identifier: CA1673206292

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140046G= , CM000668.2:g.152140046G=	GRCh38
NC_000006.11:g.152461181G= , CM000668.1:g.152461181G=	GRCh37
NC_000006.10:g.152502874G=	NCBI36
NG_012855.1:g.502354C=
NG_012855.2:g.502354C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1896C= MANE Plus Clinical	ENSP00000346701.4:p.Ala632=
ENST00000367255.10:c.25362C= MANE Select	ENSP00000356224.5:p.Ala8454=
ENST00000423061.6:c.25218C=	ENSP00000396024.1:p.Ala8406=
ENST00000672154.1:c.764C=
ENST00000672169.1:c.1097C=
ENST00000673173.1:c.1006C=
ENST00000673451.1:c.1134C=	ENSP00000500189.1:p.Ala378=
ENST00000341594.9:c.24147C=	ENSP00000341887.6:p.Ala8049=
ENST00000347037.9:n.2110C=
ENST00000354674.4:c.1896C=	ENSP00000346701.4:p.Ala632=
ENST00000367251.7:c.4197C=	ENSP00000356220.3:p.Ala1399=
ENST00000367255.9:c.25362C=	ENSP00000356224.5:p.Ala8454=
ENST00000367256.9:n.9054C=
ENST00000367257.8:c.3300C=	ENSP00000356226.4:p.Ala1100=
ENST00000409694.6:n.8946C=
ENST00000423061.5:c.25218C=	ENSP00000396024.1:p.Ala8406=
ENST00000460912.6:n.1976C=
ENST00000478916.5:n.4384C=
ENST00000536990.5:n.2199C=
ENST00000539504.5:c.1827C=	ENSP00000441052.1:p.Ala609=
NM_033071.3:c.25218C=	NP_149062.1:p.Ala8406=
NM_182961.3:c.25362C=	NP_892006.3:p.Ala8454=
XM_006715407.1:c.25467C=	XP_006715470.1:p.Ala8489=
XM_006715408.1:c.25455C=	XP_006715471.1:p.Ala8485=
XM_006715409.1:c.25446C=	XP_006715472.1:p.Ala8482=
XM_006715410.1:c.25467C=	XP_006715473.1:p.Ala8489=
XM_006715411.1:c.25416C=	XP_006715474.1:p.Ala8472=
XM_006715412.1:c.25452C=	XP_006715475.1:p.Ala8484=
XM_006715413.1:c.25398C=	XP_006715476.1:p.Ala8466=
XM_006715414.1:c.25395C=	XP_006715477.1:p.Ala8465=
XM_006715415.1:c.25398C=	XP_006715478.1:p.Ala8466=
XM_006715416.1:c.25383C=	XP_006715479.1:p.Ala8461=
XM_006715417.1:c.25326C=	XP_006715480.1:p.Ala8442=
XM_006715420.1:c.25314C=	XP_006715483.1:p.Ala8438=
XM_006715421.1:c.25311C=	XP_006715484.1:p.Ala8437=
XM_006715422.1:c.25308C=	XP_006715485.1:p.Ala8436=
XM_006715423.1:c.25467C=	XP_006715486.1:p.Ala8489=
XM_006715424.1:c.25467C=	XP_006715487.1:p.Ala8489=
XM_006715425.1:c.25398C=	XP_006715488.1:p.Ala8466=
XM_011535641.1:c.25464C=	XP_011533943.1:p.Ala8488=
XM_011535642.1:c.25452C=	XP_011533944.1:p.Ala8484=
XM_011535643.1:c.25302C=	XP_011533945.1:p.Ala8434=
XM_011535644.1:c.23742C=	XP_011533946.1:p.Ala7914=
XM_011535645.1:c.23235C=	XP_011533947.1:p.Ala7745=
XM_011535647.1:c.18702C=	XP_011533949.1:p.Ala6234=
NM_001347701.1:c.1968C=	NP_001334630.1:p.Ala656=
NM_001347702.1:c.1896C=	NP_001334631.1:p.Ala632=
XM_006715408.2:c.25455C=	XP_006715471.1:p.Ala8485=
XM_006715410.2:c.25467C=	XP_006715473.1:p.Ala8489=
XM_006715412.2:c.25452C=	XP_006715475.1:p.Ala8484=
XM_006715413.2:c.25398C=	XP_006715476.1:p.Ala8466=
XM_006715415.2:c.25398C=	XP_006715478.1:p.Ala8466=
XM_006715416.2:c.25383C=	XP_006715479.1:p.Ala8461=
XM_006715417.2:c.25326C=	XP_006715480.1:p.Ala8442=
XM_006715420.2:c.25314C=	XP_006715483.1:p.Ala8438=
XM_006715421.2:c.25311C=	XP_006715484.1:p.Ala8437=
XM_006715423.2:c.25467C=	XP_006715486.1:p.Ala8489=
XM_006715424.2:c.25467C=	XP_006715487.1:p.Ala8489=
XM_006715425.2:c.25398C=	XP_006715488.1:p.Ala8466=
XM_011535641.2:c.25464C=	XP_011533943.1:p.Ala8488=
XM_011535642.2:c.25452C=	XP_011533944.1:p.Ala8484=
XM_011535645.2:c.23235C=	XP_011533947.1:p.Ala7745=
XM_017010608.1:c.25467C=	XP_016866097.1:p.Ala8489=
XM_017010609.1:c.25467C=	XP_016866098.1:p.Ala8489=
XM_017010610.1:c.25446C=	XP_016866099.1:p.Ala8482=
XM_017010611.2:c.25440C=	XP_016866100.1:p.Ala8480=
XM_017010612.1:c.25389C=	XP_016866101.1:p.Ala8463=
XM_017010613.1:c.25395C=	XP_016866102.1:p.Ala8465=
XM_017010614.1:c.25311C=	XP_016866103.1:p.Ala8437=
XM_017010615.1:c.25242C=	XP_016866104.1:p.Ala8414=
XM_017010616.1:c.25398C=	XP_016866105.1:p.Ala8466=
XM_017010617.1:c.25395C=	XP_016866106.1:p.Ala8465=
XM_017010618.1:c.25383C=	XP_016866107.1:p.Ala8461=
XM_017010619.1:c.23742C=	XP_016866108.1:p.Ala7914=
NM_182961.4:c.25362C= MANE Select	NP_892006.3:p.Ala8454=
NM_001347701.2:c.1968C=	NP_001334630.1:p.Ala656=
NM_001347702.2:c.1896C= MANE Plus Clinical	NP_001334631.1:p.Ala632=
NM_033071.5:c.25218C=	NP_149062.2:p.Ala8406=