Canonical Allele Identifier: CA366099554

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152534878A>C (hg19) ; chr6:g.152213743A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213743A>C , CM000668.2:g.152213743A>C	GRCh38
NC_000006.11:g.152534878A>C , CM000668.1:g.152534878A>C	GRCh37
NC_000006.10:g.152576571A>C	NCBI36
NG_012855.1:g.428657T>G
NG_012855.2:g.428657T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22363T>G MANE Select	ENSP00000356224.5:p.Leu7455Val
ENST00000423061.6:c.22150T>G	ENSP00000396024.1:p.Leu7384Val
ENST00000341594.9:c.21148T>G	ENSP00000341887.6:p.Leu7050Val
ENST00000367251.7:c.1129T>G	ENSP00000356220.3:p.Leu377Val
ENST00000367255.9:c.22363T>G	ENSP00000356224.5:p.Leu7455Val
ENST00000367256.9:n.6055T>G
ENST00000367257.8:c.301T>G	ENSP00000356226.4:p.Leu101Val
ENST00000409694.6:n.5947T>G
ENST00000423061.5:c.22150T>G	ENSP00000396024.1:p.Leu7384Val
NM_033071.3:c.22150T>G	NP_149062.1:p.Leu7384Val
NM_182961.3:c.22363T>G	NP_892006.3:p.Leu7455Val
XM_006715407.1:c.22399T>G	XP_006715470.1:p.Leu7467Val
XM_006715408.1:c.22387T>G	XP_006715471.1:p.Leu7463Val
XM_006715409.1:c.22378T>G	XP_006715472.1:p.Leu7460Val
XM_006715410.1:c.22399T>G	XP_006715473.1:p.Leu7467Val
XM_006715411.1:c.22348T>G	XP_006715474.1:p.Leu7450Val
XM_006715412.1:c.22384T>G	XP_006715475.1:p.Leu7462Val
XM_006715413.1:c.22399T>G	XP_006715476.1:p.Leu7467Val
XM_006715414.1:c.22327T>G	XP_006715477.1:p.Leu7443Val
XM_006715415.1:c.22399T>G	XP_006715478.1:p.Leu7467Val
XM_006715416.1:c.22384T>G	XP_006715479.1:p.Leu7462Val
XM_006715417.1:c.22258T>G	XP_006715480.1:p.Leu7420Val
XM_006715420.1:c.22246T>G	XP_006715483.1:p.Leu7416Val
XM_006715421.1:c.22243T>G	XP_006715484.1:p.Leu7415Val
XM_006715422.1:c.22240T>G	XP_006715485.1:p.Leu7414Val
XM_006715423.1:c.22399T>G	XP_006715486.1:p.Leu7467Val
XM_006715424.1:c.22399T>G	XP_006715487.1:p.Leu7467Val
XM_006715425.1:c.22399T>G	XP_006715488.1:p.Leu7467Val
XM_011535641.1:c.22396T>G	XP_011533943.1:p.Leu7466Val
XM_011535642.1:c.22384T>G	XP_011533944.1:p.Leu7462Val
XM_011535643.1:c.22234T>G	XP_011533945.1:p.Leu7412Val
XM_011535644.1:c.20674T>G	XP_011533946.1:p.Leu6892Val
XM_011535645.1:c.20167T>G	XP_011533947.1:p.Leu6723Val
XM_011535647.1:c.15634T>G	XP_011533949.1:p.Leu5212Val
XM_006715408.2:c.22387T>G	XP_006715471.1:p.Leu7463Val
XM_006715410.2:c.22399T>G	XP_006715473.1:p.Leu7467Val
XM_006715412.2:c.22384T>G	XP_006715475.1:p.Leu7462Val
XM_006715413.2:c.22399T>G	XP_006715476.1:p.Leu7467Val
XM_006715415.2:c.22399T>G	XP_006715478.1:p.Leu7467Val
XM_006715416.2:c.22384T>G	XP_006715479.1:p.Leu7462Val
XM_006715417.2:c.22258T>G	XP_006715480.1:p.Leu7420Val
XM_006715420.2:c.22246T>G	XP_006715483.1:p.Leu7416Val
XM_006715421.2:c.22243T>G	XP_006715484.1:p.Leu7415Val
XM_006715423.2:c.22399T>G	XP_006715486.1:p.Leu7467Val
XM_006715424.2:c.22399T>G	XP_006715487.1:p.Leu7467Val
XM_006715425.2:c.22399T>G	XP_006715488.1:p.Leu7467Val
XM_011535641.2:c.22396T>G	XP_011533943.1:p.Leu7466Val
XM_011535642.2:c.22384T>G	XP_011533944.1:p.Leu7462Val
XM_011535645.2:c.20167T>G	XP_011533947.1:p.Leu6723Val
XM_017010608.1:c.22399T>G	XP_016866097.1:p.Leu7467Val
XM_017010609.1:c.22399T>G	XP_016866098.1:p.Leu7467Val
XM_017010610.1:c.22378T>G	XP_016866099.1:p.Leu7460Val
XM_017010611.2:c.22372T>G	XP_016866100.1:p.Leu7458Val
XM_017010612.1:c.22321T>G	XP_016866101.1:p.Leu7441Val
XM_017010613.1:c.22396T>G	XP_016866102.1:p.Leu7466Val
XM_017010614.1:c.22243T>G	XP_016866103.1:p.Leu7415Val
XM_017010615.1:c.22243T>G	XP_016866104.1:p.Leu7415Val
XM_017010616.1:c.22399T>G	XP_016866105.1:p.Leu7467Val
XM_017010617.1:c.22396T>G	XP_016866106.1:p.Leu7466Val
XM_017010618.1:c.22384T>G	XP_016866107.1:p.Leu7462Val
XM_017010619.1:c.20674T>G	XP_016866108.1:p.Leu6892Val
NM_182961.4:c.22363T>G MANE Select	NP_892006.3:p.Leu7455Val
NM_033071.5:c.22150T>G	NP_149062.2:p.Leu7384Val