Canonical Allele Identifier: CA366099280

Gene: SYNE1

Linked Data

• dbSNP Id: rs1373895740
• MyVariant Identifiers: chr6:g.152534818T>A (hg19) ; chr6:g.152213683T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213683T>A , CM000668.2:g.152213683T>A	GRCh38
NC_000006.11:g.152534818T>A , CM000668.1:g.152534818T>A	GRCh37
NC_000006.10:g.152576511T>A	NCBI36
NG_012855.1:g.428717A>T
NG_012855.2:g.428717A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22423A>T MANE Select	ENSP00000356224.5:p.Thr7475Ser
ENST00000423061.6:c.22210A>T	ENSP00000396024.1:p.Thr7404Ser
ENST00000341594.9:c.21208A>T	ENSP00000341887.6:p.Thr7070Ser
ENST00000367251.7:c.1189A>T	ENSP00000356220.3:p.Thr397Ser
ENST00000367255.9:c.22423A>T	ENSP00000356224.5:p.Thr7475Ser
ENST00000367256.9:n.6115A>T
ENST00000367257.8:c.361A>T	ENSP00000356226.4:p.Thr121Ser
ENST00000409694.6:n.6007A>T
ENST00000423061.5:c.22210A>T	ENSP00000396024.1:p.Thr7404Ser
NM_033071.3:c.22210A>T	NP_149062.1:p.Thr7404Ser
NM_182961.3:c.22423A>T	NP_892006.3:p.Thr7475Ser
XM_006715407.1:c.22459A>T	XP_006715470.1:p.Thr7487Ser
XM_006715408.1:c.22447A>T	XP_006715471.1:p.Thr7483Ser
XM_006715409.1:c.22438A>T	XP_006715472.1:p.Thr7480Ser
XM_006715410.1:c.22459A>T	XP_006715473.1:p.Thr7487Ser
XM_006715411.1:c.22408A>T	XP_006715474.1:p.Thr7470Ser
XM_006715412.1:c.22444A>T	XP_006715475.1:p.Thr7482Ser
XM_006715413.1:c.22459A>T	XP_006715476.1:p.Thr7487Ser
XM_006715414.1:c.22387A>T	XP_006715477.1:p.Thr7463Ser
XM_006715415.1:c.22459A>T	XP_006715478.1:p.Thr7487Ser
XM_006715416.1:c.22444A>T	XP_006715479.1:p.Thr7482Ser
XM_006715417.1:c.22318A>T	XP_006715480.1:p.Thr7440Ser
XM_006715420.1:c.22306A>T	XP_006715483.1:p.Thr7436Ser
XM_006715421.1:c.22303A>T	XP_006715484.1:p.Thr7435Ser
XM_006715422.1:c.22300A>T	XP_006715485.1:p.Thr7434Ser
XM_006715423.1:c.22459A>T	XP_006715486.1:p.Thr7487Ser
XM_006715424.1:c.22459A>T	XP_006715487.1:p.Thr7487Ser
XM_006715425.1:c.22459A>T	XP_006715488.1:p.Thr7487Ser
XM_011535641.1:c.22456A>T	XP_011533943.1:p.Thr7486Ser
XM_011535642.1:c.22444A>T	XP_011533944.1:p.Thr7482Ser
XM_011535643.1:c.22294A>T	XP_011533945.1:p.Thr7432Ser
XM_011535644.1:c.20734A>T	XP_011533946.1:p.Thr6912Ser
XM_011535645.1:c.20227A>T	XP_011533947.1:p.Thr6743Ser
XM_011535647.1:c.15694A>T	XP_011533949.1:p.Thr5232Ser
XM_006715408.2:c.22447A>T	XP_006715471.1:p.Thr7483Ser
XM_006715410.2:c.22459A>T	XP_006715473.1:p.Thr7487Ser
XM_006715412.2:c.22444A>T	XP_006715475.1:p.Thr7482Ser
XM_006715413.2:c.22459A>T	XP_006715476.1:p.Thr7487Ser
XM_006715415.2:c.22459A>T	XP_006715478.1:p.Thr7487Ser
XM_006715416.2:c.22444A>T	XP_006715479.1:p.Thr7482Ser
XM_006715417.2:c.22318A>T	XP_006715480.1:p.Thr7440Ser
XM_006715420.2:c.22306A>T	XP_006715483.1:p.Thr7436Ser
XM_006715421.2:c.22303A>T	XP_006715484.1:p.Thr7435Ser
XM_006715423.2:c.22459A>T	XP_006715486.1:p.Thr7487Ser
XM_006715424.2:c.22459A>T	XP_006715487.1:p.Thr7487Ser
XM_006715425.2:c.22459A>T	XP_006715488.1:p.Thr7487Ser
XM_011535641.2:c.22456A>T	XP_011533943.1:p.Thr7486Ser
XM_011535642.2:c.22444A>T	XP_011533944.1:p.Thr7482Ser
XM_011535645.2:c.20227A>T	XP_011533947.1:p.Thr6743Ser
XM_017010608.1:c.22459A>T	XP_016866097.1:p.Thr7487Ser
XM_017010609.1:c.22459A>T	XP_016866098.1:p.Thr7487Ser
XM_017010610.1:c.22438A>T	XP_016866099.1:p.Thr7480Ser
XM_017010611.2:c.22432A>T	XP_016866100.1:p.Thr7478Ser
XM_017010612.1:c.22381A>T	XP_016866101.1:p.Thr7461Ser
XM_017010613.1:c.22456A>T	XP_016866102.1:p.Thr7486Ser
XM_017010614.1:c.22303A>T	XP_016866103.1:p.Thr7435Ser
XM_017010615.1:c.22303A>T	XP_016866104.1:p.Thr7435Ser
XM_017010616.1:c.22459A>T	XP_016866105.1:p.Thr7487Ser
XM_017010617.1:c.22456A>T	XP_016866106.1:p.Thr7486Ser
XM_017010618.1:c.22444A>T	XP_016866107.1:p.Thr7482Ser
XM_017010619.1:c.20734A>T	XP_016866108.1:p.Thr6912Ser
NM_182961.4:c.22423A>T MANE Select	NP_892006.3:p.Thr7475Ser
NM_033071.5:c.22210A>T	NP_149062.2:p.Thr7404Ser