Canonical Allele Identifier: CA4054532

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152239609G>A , CM000668.2:g.152239609G>A	GRCh38
NC_000006.11:g.152560744G>A , CM000668.1:g.152560744G>A	GRCh37
NC_000006.10:g.152602437G>A	NCBI36
NG_012855.1:g.402791C>T
NG_012855.2:g.402791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.19991C>T MANE Select	ENSP00000356224.5:p.Thr6664Ile
ENST00000423061.6:c.19778C>T	ENSP00000396024.1:p.Thr6593Ile
ENST00000341594.9:c.18776C>T	ENSP00000341887.6:p.Thr6259Ile
ENST00000367255.9:c.19991C>T	ENSP00000356224.5:p.Thr6664Ile
ENST00000367256.9:n.3683C>T
ENST00000409694.6:n.3575C>T
ENST00000423061.5:c.19778C>T	ENSP00000396024.1:p.Thr6593Ile
NM_033071.3:c.19778C>T	NP_149062.1:p.Thr6593Ile
NM_182961.3:c.19991C>T	NP_892006.3:p.Thr6664Ile
XM_006715407.1:c.20027C>T	XP_006715470.1:p.Thr6676Ile
XM_006715408.1:c.20015C>T	XP_006715471.1:p.Thr6672Ile
XM_006715409.1:c.20006C>T	XP_006715472.1:p.Thr6669Ile
XM_006715410.1:c.20027C>T	XP_006715473.1:p.Thr6676Ile
XM_006715411.1:c.19976C>T	XP_006715474.1:p.Thr6659Ile
XM_006715412.1:c.20012C>T	XP_006715475.1:p.Thr6671Ile
XM_006715413.1:c.20027C>T	XP_006715476.1:p.Thr6676Ile
XM_006715414.1:c.19955C>T	XP_006715477.1:p.Thr6652Ile
XM_006715415.1:c.20027C>T	XP_006715478.1:p.Thr6676Ile
XM_006715416.1:c.20012C>T	XP_006715479.1:p.Thr6671Ile
XM_006715417.1:c.19886C>T	XP_006715480.1:p.Thr6629Ile
XM_006715420.1:c.19874C>T	XP_006715483.1:p.Thr6625Ile
XM_006715421.1:c.19871C>T	XP_006715484.1:p.Thr6624Ile
XM_006715422.1:c.19868C>T	XP_006715485.1:p.Thr6623Ile
XM_006715423.1:c.20027C>T	XP_006715486.1:p.Thr6676Ile
XM_006715424.1:c.20027C>T	XP_006715487.1:p.Thr6676Ile
XM_006715425.1:c.20027C>T	XP_006715488.1:p.Thr6676Ile
XM_011535641.1:c.20024C>T	XP_011533943.1:p.Thr6675Ile
XM_011535642.1:c.20012C>T	XP_011533944.1:p.Thr6671Ile
XM_011535643.1:c.19862C>T	XP_011533945.1:p.Thr6621Ile
XM_011535644.1:c.18302C>T	XP_011533946.1:p.Thr6101Ile
XM_011535645.1:c.17795C>T	XP_011533947.1:p.Thr5932Ile
XM_011535647.1:c.13262C>T	XP_011533949.1:p.Thr4421Ile
XM_006715408.2:c.20015C>T	XP_006715471.1:p.Thr6672Ile
XM_006715410.2:c.20027C>T	XP_006715473.1:p.Thr6676Ile
XM_006715412.2:c.20012C>T	XP_006715475.1:p.Thr6671Ile
XM_006715413.2:c.20027C>T	XP_006715476.1:p.Thr6676Ile
XM_006715415.2:c.20027C>T	XP_006715478.1:p.Thr6676Ile
XM_006715416.2:c.20012C>T	XP_006715479.1:p.Thr6671Ile
XM_006715417.2:c.19886C>T	XP_006715480.1:p.Thr6629Ile
XM_006715420.2:c.19874C>T	XP_006715483.1:p.Thr6625Ile
XM_006715421.2:c.19871C>T	XP_006715484.1:p.Thr6624Ile
XM_006715423.2:c.20027C>T	XP_006715486.1:p.Thr6676Ile
XM_006715424.2:c.20027C>T	XP_006715487.1:p.Thr6676Ile
XM_006715425.2:c.20027C>T	XP_006715488.1:p.Thr6676Ile
XM_011535641.2:c.20024C>T	XP_011533943.1:p.Thr6675Ile
XM_011535642.2:c.20012C>T	XP_011533944.1:p.Thr6671Ile
XM_011535645.2:c.17795C>T	XP_011533947.1:p.Thr5932Ile
XM_017010608.1:c.20027C>T	XP_016866097.1:p.Thr6676Ile
XM_017010609.1:c.20027C>T	XP_016866098.1:p.Thr6676Ile
XM_017010610.1:c.20006C>T	XP_016866099.1:p.Thr6669Ile
XM_017010611.2:c.20000C>T	XP_016866100.1:p.Thr6667Ile
XM_017010612.1:c.19949C>T	XP_016866101.1:p.Thr6650Ile
XM_017010613.1:c.20024C>T	XP_016866102.1:p.Thr6675Ile
XM_017010614.1:c.19871C>T	XP_016866103.1:p.Thr6624Ile
XM_017010615.1:c.19871C>T	XP_016866104.1:p.Thr6624Ile
XM_017010616.1:c.20027C>T	XP_016866105.1:p.Thr6676Ile
XM_017010617.1:c.20024C>T	XP_016866106.1:p.Thr6675Ile
XM_017010618.1:c.20012C>T	XP_016866107.1:p.Thr6671Ile
XM_017010619.1:c.18302C>T	XP_016866108.1:p.Thr6101Ile
NM_182961.4:c.19991C>T MANE Select	NP_892006.3:p.Thr6664Ile
NM_033071.5:c.19778C>T	NP_149062.2:p.Thr6593Ile