Canonical Allele Identifier: CA4052958

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143656C>T , CM000668.2:g.152143656C>T	GRCh38
NC_000006.11:g.152464791C>T , CM000668.1:g.152464791C>T	GRCh37
NC_000006.10:g.152506484C>T	NCBI36
NG_012855.1:g.498744G>A
NG_012855.2:g.498744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1620G>A MANE Plus Clinical	ENSP00000346701.4:p.Thr540=
ENST00000367255.10:c.25086G>A MANE Select	ENSP00000356224.5:p.Thr8362=
ENST00000423061.6:c.24942G>A	ENSP00000396024.1:p.Thr8314=
ENST00000672154.1:c.488G>A
ENST00000672169.1:c.821G>A
ENST00000673173.1:c.891-3495G>A
ENST00000673451.1:c.858G>A	ENSP00000500189.1:p.Thr286=
ENST00000341594.9:c.23871G>A	ENSP00000341887.6:p.Thr7957=
ENST00000347037.9:n.1834G>A
ENST00000354674.4:c.1620G>A	ENSP00000346701.4:p.Thr540=
ENST00000367251.7:c.3921G>A	ENSP00000356220.3:p.Thr1307=
ENST00000367255.9:c.25086G>A	ENSP00000356224.5:p.Thr8362=
ENST00000367256.9:n.8778G>A
ENST00000367257.8:c.3024G>A	ENSP00000356226.4:p.Thr1008=
ENST00000409694.6:n.8670G>A
ENST00000423061.5:c.24942G>A	ENSP00000396024.1:p.Thr8314=
ENST00000460912.6:n.1700G>A
ENST00000478916.5:n.4108G>A
ENST00000536990.5:n.1923G>A
ENST00000539504.5:c.1551G>A	ENSP00000441052.1:p.Thr517=
NM_033071.3:c.24942G>A	NP_149062.1:p.Thr8314=
NM_182961.3:c.25086G>A	NP_892006.3:p.Thr8362=
XM_006715407.1:c.25191G>A	XP_006715470.1:p.Thr8397=
XM_006715408.1:c.25179G>A	XP_006715471.1:p.Thr8393=
XM_006715409.1:c.25170G>A	XP_006715472.1:p.Thr8390=
XM_006715410.1:c.25191G>A	XP_006715473.1:p.Thr8397=
XM_006715411.1:c.25140G>A	XP_006715474.1:p.Thr8380=
XM_006715412.1:c.25176G>A	XP_006715475.1:p.Thr8392=
XM_006715413.1:c.25122G>A	XP_006715476.1:p.Thr8374=
XM_006715414.1:c.25119G>A	XP_006715477.1:p.Thr8373=
XM_006715415.1:c.25122G>A	XP_006715478.1:p.Thr8374=
XM_006715416.1:c.25107G>A	XP_006715479.1:p.Thr8369=
XM_006715417.1:c.25050G>A	XP_006715480.1:p.Thr8350=
XM_006715420.1:c.25038G>A	XP_006715483.1:p.Thr8346=
XM_006715421.1:c.25035G>A	XP_006715484.1:p.Thr8345=
XM_006715422.1:c.25032G>A	XP_006715485.1:p.Thr8344=
XM_006715423.1:c.25191G>A	XP_006715486.1:p.Thr8397=
XM_006715424.1:c.25191G>A	XP_006715487.1:p.Thr8397=
XM_006715425.1:c.25122G>A	XP_006715488.1:p.Thr8374=
XM_011535641.1:c.25188G>A	XP_011533943.1:p.Thr8396=
XM_011535642.1:c.25176G>A	XP_011533944.1:p.Thr8392=
XM_011535643.1:c.25026G>A	XP_011533945.1:p.Thr8342=
XM_011535644.1:c.23466G>A	XP_011533946.1:p.Thr7822=
XM_011535645.1:c.22959G>A	XP_011533947.1:p.Thr7653=
XM_011535647.1:c.18426G>A	XP_011533949.1:p.Thr6142=
NM_001347701.1:c.1692G>A	NP_001334630.1:p.Thr564=
NM_001347702.1:c.1620G>A	NP_001334631.1:p.Thr540=
XM_006715408.2:c.25179G>A	XP_006715471.1:p.Thr8393=
XM_006715410.2:c.25191G>A	XP_006715473.1:p.Thr8397=
XM_006715412.2:c.25176G>A	XP_006715475.1:p.Thr8392=
XM_006715413.2:c.25122G>A	XP_006715476.1:p.Thr8374=
XM_006715415.2:c.25122G>A	XP_006715478.1:p.Thr8374=
XM_006715416.2:c.25107G>A	XP_006715479.1:p.Thr8369=
XM_006715417.2:c.25050G>A	XP_006715480.1:p.Thr8350=
XM_006715420.2:c.25038G>A	XP_006715483.1:p.Thr8346=
XM_006715421.2:c.25035G>A	XP_006715484.1:p.Thr8345=
XM_006715423.2:c.25191G>A	XP_006715486.1:p.Thr8397=
XM_006715424.2:c.25191G>A	XP_006715487.1:p.Thr8397=
XM_006715425.2:c.25122G>A	XP_006715488.1:p.Thr8374=
XM_011535641.2:c.25188G>A	XP_011533943.1:p.Thr8396=
XM_011535642.2:c.25176G>A	XP_011533944.1:p.Thr8392=
XM_011535645.2:c.22959G>A	XP_011533947.1:p.Thr7653=
XM_017010608.1:c.25191G>A	XP_016866097.1:p.Thr8397=
XM_017010609.1:c.25191G>A	XP_016866098.1:p.Thr8397=
XM_017010610.1:c.25170G>A	XP_016866099.1:p.Thr8390=
XM_017010611.2:c.25164G>A	XP_016866100.1:p.Thr8388=
XM_017010612.1:c.25113G>A	XP_016866101.1:p.Thr8371=
XM_017010613.1:c.25119G>A	XP_016866102.1:p.Thr8373=
XM_017010614.1:c.25035G>A	XP_016866103.1:p.Thr8345=
XM_017010615.1:c.24966G>A	XP_016866104.1:p.Thr8322=
XM_017010616.1:c.25122G>A	XP_016866105.1:p.Thr8374=
XM_017010617.1:c.25119G>A	XP_016866106.1:p.Thr8373=
XM_017010618.1:c.25107G>A	XP_016866107.1:p.Thr8369=
XM_017010619.1:c.23466G>A	XP_016866108.1:p.Thr7822=
NM_182961.4:c.25086G>A MANE Select	NP_892006.3:p.Thr8362=
NM_001347701.2:c.1692G>A	NP_001334630.1:p.Thr564=
NM_001347702.2:c.1620G>A MANE Plus Clinical	NP_001334631.1:p.Thr540=
NM_033071.5:c.24942G>A	NP_149062.2:p.Thr8314=