Canonical Allele Identifier: CA1673206427

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140136G= , CM000668.2:g.152140136G=	GRCh38
NC_000006.11:g.152461271G= , CM000668.1:g.152461271G=	GRCh37
NC_000006.10:g.152502964G=	NCBI36
NG_012855.1:g.502264C=
NG_012855.2:g.502264C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1806C= MANE Plus Clinical	ENSP00000346701.4:p.Leu602=
ENST00000367255.10:c.25272C= MANE Select	ENSP00000356224.5:p.Leu8424=
ENST00000423061.6:c.25128C=	ENSP00000396024.1:p.Leu8376=
ENST00000672154.1:c.674C=
ENST00000672169.1:c.1007C=
ENST00000673173.1:c.916C=
ENST00000673451.1:c.1044C=	ENSP00000500189.1:p.Leu348=
ENST00000341594.9:c.24057C=	ENSP00000341887.6:p.Leu8019=
ENST00000347037.9:n.2020C=
ENST00000354674.4:c.1806C=	ENSP00000346701.4:p.Leu602=
ENST00000367251.7:c.4107C=	ENSP00000356220.3:p.Leu1369=
ENST00000367255.9:c.25272C=	ENSP00000356224.5:p.Leu8424=
ENST00000367256.9:n.8964C=
ENST00000367257.8:c.3210C=	ENSP00000356226.4:p.Leu1070=
ENST00000409694.6:n.8856C=
ENST00000423061.5:c.25128C=	ENSP00000396024.1:p.Leu8376=
ENST00000460912.6:n.1886C=
ENST00000478916.5:n.4294C=
ENST00000536990.5:n.2109C=
ENST00000539504.5:c.1737C=	ENSP00000441052.1:p.Leu579=
NM_033071.3:c.25128C=	NP_149062.1:p.Leu8376=
NM_182961.3:c.25272C=	NP_892006.3:p.Leu8424=
XM_006715407.1:c.25377C=	XP_006715470.1:p.Leu8459=
XM_006715408.1:c.25365C=	XP_006715471.1:p.Leu8455=
XM_006715409.1:c.25356C=	XP_006715472.1:p.Leu8452=
XM_006715410.1:c.25377C=	XP_006715473.1:p.Leu8459=
XM_006715411.1:c.25326C=	XP_006715474.1:p.Leu8442=
XM_006715412.1:c.25362C=	XP_006715475.1:p.Leu8454=
XM_006715413.1:c.25308C=	XP_006715476.1:p.Leu8436=
XM_006715414.1:c.25305C=	XP_006715477.1:p.Leu8435=
XM_006715415.1:c.25308C=	XP_006715478.1:p.Leu8436=
XM_006715416.1:c.25293C=	XP_006715479.1:p.Leu8431=
XM_006715417.1:c.25236C=	XP_006715480.1:p.Leu8412=
XM_006715420.1:c.25224C=	XP_006715483.1:p.Leu8408=
XM_006715421.1:c.25221C=	XP_006715484.1:p.Leu8407=
XM_006715422.1:c.25218C=	XP_006715485.1:p.Leu8406=
XM_006715423.1:c.25377C=	XP_006715486.1:p.Leu8459=
XM_006715424.1:c.25377C=	XP_006715487.1:p.Leu8459=
XM_006715425.1:c.25308C=	XP_006715488.1:p.Leu8436=
XM_011535641.1:c.25374C=	XP_011533943.1:p.Leu8458=
XM_011535642.1:c.25362C=	XP_011533944.1:p.Leu8454=
XM_011535643.1:c.25212C=	XP_011533945.1:p.Leu8404=
XM_011535644.1:c.23652C=	XP_011533946.1:p.Leu7884=
XM_011535645.1:c.23145C=	XP_011533947.1:p.Leu7715=
XM_011535647.1:c.18612C=	XP_011533949.1:p.Leu6204=
NM_001347701.1:c.1878C=	NP_001334630.1:p.Leu626=
NM_001347702.1:c.1806C=	NP_001334631.1:p.Leu602=
XM_006715408.2:c.25365C=	XP_006715471.1:p.Leu8455=
XM_006715410.2:c.25377C=	XP_006715473.1:p.Leu8459=
XM_006715412.2:c.25362C=	XP_006715475.1:p.Leu8454=
XM_006715413.2:c.25308C=	XP_006715476.1:p.Leu8436=
XM_006715415.2:c.25308C=	XP_006715478.1:p.Leu8436=
XM_006715416.2:c.25293C=	XP_006715479.1:p.Leu8431=
XM_006715417.2:c.25236C=	XP_006715480.1:p.Leu8412=
XM_006715420.2:c.25224C=	XP_006715483.1:p.Leu8408=
XM_006715421.2:c.25221C=	XP_006715484.1:p.Leu8407=
XM_006715423.2:c.25377C=	XP_006715486.1:p.Leu8459=
XM_006715424.2:c.25377C=	XP_006715487.1:p.Leu8459=
XM_006715425.2:c.25308C=	XP_006715488.1:p.Leu8436=
XM_011535641.2:c.25374C=	XP_011533943.1:p.Leu8458=
XM_011535642.2:c.25362C=	XP_011533944.1:p.Leu8454=
XM_011535645.2:c.23145C=	XP_011533947.1:p.Leu7715=
XM_017010608.1:c.25377C=	XP_016866097.1:p.Leu8459=
XM_017010609.1:c.25377C=	XP_016866098.1:p.Leu8459=
XM_017010610.1:c.25356C=	XP_016866099.1:p.Leu8452=
XM_017010611.2:c.25350C=	XP_016866100.1:p.Leu8450=
XM_017010612.1:c.25299C=	XP_016866101.1:p.Leu8433=
XM_017010613.1:c.25305C=	XP_016866102.1:p.Leu8435=
XM_017010614.1:c.25221C=	XP_016866103.1:p.Leu8407=
XM_017010615.1:c.25152C=	XP_016866104.1:p.Leu8384=
XM_017010616.1:c.25308C=	XP_016866105.1:p.Leu8436=
XM_017010617.1:c.25305C=	XP_016866106.1:p.Leu8435=
XM_017010618.1:c.25293C=	XP_016866107.1:p.Leu8431=
XM_017010619.1:c.23652C=	XP_016866108.1:p.Leu7884=
NM_182961.4:c.25272C= MANE Select	NP_892006.3:p.Leu8424=
NM_001347701.2:c.1878C=	NP_001334630.1:p.Leu626=
NM_001347702.2:c.1806C= MANE Plus Clinical	NP_001334631.1:p.Leu602=
NM_033071.5:c.25128C=	NP_149062.2:p.Leu8376=