Canonical Allele Identifier: CA366099175

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152213659-T-A
• MyVariant Identifiers: chr6:g.152534794T>A (hg19) ; chr6:g.152213659T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213659T>A , CM000668.2:g.152213659T>A	GRCh38
NC_000006.11:g.152534794T>A , CM000668.1:g.152534794T>A	GRCh37
NC_000006.10:g.152576487T>A	NCBI36
NG_012855.1:g.428741A>T
NG_012855.2:g.428741A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22447A>T MANE Select	ENSP00000356224.5:p.Ile7483Phe
ENST00000423061.6:c.22234A>T	ENSP00000396024.1:p.Ile7412Phe
ENST00000341594.9:c.21232A>T	ENSP00000341887.6:p.Ile7078Phe
ENST00000367251.7:c.1213A>T	ENSP00000356220.3:p.Ile405Phe
ENST00000367255.9:c.22447A>T	ENSP00000356224.5:p.Ile7483Phe
ENST00000367256.9:n.6139A>T
ENST00000367257.8:c.385A>T	ENSP00000356226.4:p.Ile129Phe
ENST00000409694.6:n.6031A>T
ENST00000423061.5:c.22234A>T	ENSP00000396024.1:p.Ile7412Phe
NM_033071.3:c.22234A>T	NP_149062.1:p.Ile7412Phe
NM_182961.3:c.22447A>T	NP_892006.3:p.Ile7483Phe
XM_006715407.1:c.22483A>T	XP_006715470.1:p.Ile7495Phe
XM_006715408.1:c.22471A>T	XP_006715471.1:p.Ile7491Phe
XM_006715409.1:c.22462A>T	XP_006715472.1:p.Ile7488Phe
XM_006715410.1:c.22483A>T	XP_006715473.1:p.Ile7495Phe
XM_006715411.1:c.22432A>T	XP_006715474.1:p.Ile7478Phe
XM_006715412.1:c.22468A>T	XP_006715475.1:p.Ile7490Phe
XM_006715413.1:c.22483A>T	XP_006715476.1:p.Ile7495Phe
XM_006715414.1:c.22411A>T	XP_006715477.1:p.Ile7471Phe
XM_006715415.1:c.22483A>T	XP_006715478.1:p.Ile7495Phe
XM_006715416.1:c.22468A>T	XP_006715479.1:p.Ile7490Phe
XM_006715417.1:c.22342A>T	XP_006715480.1:p.Ile7448Phe
XM_006715420.1:c.22330A>T	XP_006715483.1:p.Ile7444Phe
XM_006715421.1:c.22327A>T	XP_006715484.1:p.Ile7443Phe
XM_006715422.1:c.22324A>T	XP_006715485.1:p.Ile7442Phe
XM_006715423.1:c.22483A>T	XP_006715486.1:p.Ile7495Phe
XM_006715424.1:c.22483A>T	XP_006715487.1:p.Ile7495Phe
XM_006715425.1:c.22483A>T	XP_006715488.1:p.Ile7495Phe
XM_011535641.1:c.22480A>T	XP_011533943.1:p.Ile7494Phe
XM_011535642.1:c.22468A>T	XP_011533944.1:p.Ile7490Phe
XM_011535643.1:c.22318A>T	XP_011533945.1:p.Ile7440Phe
XM_011535644.1:c.20758A>T	XP_011533946.1:p.Ile6920Phe
XM_011535645.1:c.20251A>T	XP_011533947.1:p.Ile6751Phe
XM_011535647.1:c.15718A>T	XP_011533949.1:p.Ile5240Phe
XM_006715408.2:c.22471A>T	XP_006715471.1:p.Ile7491Phe
XM_006715410.2:c.22483A>T	XP_006715473.1:p.Ile7495Phe
XM_006715412.2:c.22468A>T	XP_006715475.1:p.Ile7490Phe
XM_006715413.2:c.22483A>T	XP_006715476.1:p.Ile7495Phe
XM_006715415.2:c.22483A>T	XP_006715478.1:p.Ile7495Phe
XM_006715416.2:c.22468A>T	XP_006715479.1:p.Ile7490Phe
XM_006715417.2:c.22342A>T	XP_006715480.1:p.Ile7448Phe
XM_006715420.2:c.22330A>T	XP_006715483.1:p.Ile7444Phe
XM_006715421.2:c.22327A>T	XP_006715484.1:p.Ile7443Phe
XM_006715423.2:c.22483A>T	XP_006715486.1:p.Ile7495Phe
XM_006715424.2:c.22483A>T	XP_006715487.1:p.Ile7495Phe
XM_006715425.2:c.22483A>T	XP_006715488.1:p.Ile7495Phe
XM_011535641.2:c.22480A>T	XP_011533943.1:p.Ile7494Phe
XM_011535642.2:c.22468A>T	XP_011533944.1:p.Ile7490Phe
XM_011535645.2:c.20251A>T	XP_011533947.1:p.Ile6751Phe
XM_017010608.1:c.22483A>T	XP_016866097.1:p.Ile7495Phe
XM_017010609.1:c.22483A>T	XP_016866098.1:p.Ile7495Phe
XM_017010610.1:c.22462A>T	XP_016866099.1:p.Ile7488Phe
XM_017010611.2:c.22456A>T	XP_016866100.1:p.Ile7486Phe
XM_017010612.1:c.22405A>T	XP_016866101.1:p.Ile7469Phe
XM_017010613.1:c.22480A>T	XP_016866102.1:p.Ile7494Phe
XM_017010614.1:c.22327A>T	XP_016866103.1:p.Ile7443Phe
XM_017010615.1:c.22327A>T	XP_016866104.1:p.Ile7443Phe
XM_017010616.1:c.22483A>T	XP_016866105.1:p.Ile7495Phe
XM_017010617.1:c.22480A>T	XP_016866106.1:p.Ile7494Phe
XM_017010618.1:c.22468A>T	XP_016866107.1:p.Ile7490Phe
XM_017010619.1:c.20758A>T	XP_016866108.1:p.Ile6920Phe
NM_182961.4:c.22447A>T MANE Select	NP_892006.3:p.Ile7483Phe
NM_033071.5:c.22234A>T	NP_149062.2:p.Ile7412Phe