Canonical Allele Identifier: CA366099566

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152213746-A-G
• MyVariant Identifiers: chr6:g.152534881A>G (hg19) ; chr6:g.152213746A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213746A>G , CM000668.2:g.152213746A>G	GRCh38
NC_000006.11:g.152534881A>G , CM000668.1:g.152534881A>G	GRCh37
NC_000006.10:g.152576574A>G	NCBI36
NG_012855.1:g.428654T>C
NG_012855.2:g.428654T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22360T>C MANE Select	ENSP00000356224.5:p.Phe7454Leu
ENST00000423061.6:c.22147T>C	ENSP00000396024.1:p.Phe7383Leu
ENST00000341594.9:c.21145T>C	ENSP00000341887.6:p.Phe7049Leu
ENST00000367251.7:c.1126T>C	ENSP00000356220.3:p.Phe376Leu
ENST00000367255.9:c.22360T>C	ENSP00000356224.5:p.Phe7454Leu
ENST00000367256.9:n.6052T>C
ENST00000367257.8:c.298T>C	ENSP00000356226.4:p.Phe100Leu
ENST00000409694.6:n.5944T>C
ENST00000423061.5:c.22147T>C	ENSP00000396024.1:p.Phe7383Leu
NM_033071.3:c.22147T>C	NP_149062.1:p.Phe7383Leu
NM_182961.3:c.22360T>C	NP_892006.3:p.Phe7454Leu
XM_006715407.1:c.22396T>C	XP_006715470.1:p.Phe7466Leu
XM_006715408.1:c.22384T>C	XP_006715471.1:p.Phe7462Leu
XM_006715409.1:c.22375T>C	XP_006715472.1:p.Phe7459Leu
XM_006715410.1:c.22396T>C	XP_006715473.1:p.Phe7466Leu
XM_006715411.1:c.22345T>C	XP_006715474.1:p.Phe7449Leu
XM_006715412.1:c.22381T>C	XP_006715475.1:p.Phe7461Leu
XM_006715413.1:c.22396T>C	XP_006715476.1:p.Phe7466Leu
XM_006715414.1:c.22324T>C	XP_006715477.1:p.Phe7442Leu
XM_006715415.1:c.22396T>C	XP_006715478.1:p.Phe7466Leu
XM_006715416.1:c.22381T>C	XP_006715479.1:p.Phe7461Leu
XM_006715417.1:c.22255T>C	XP_006715480.1:p.Phe7419Leu
XM_006715420.1:c.22243T>C	XP_006715483.1:p.Phe7415Leu
XM_006715421.1:c.22240T>C	XP_006715484.1:p.Phe7414Leu
XM_006715422.1:c.22237T>C	XP_006715485.1:p.Phe7413Leu
XM_006715423.1:c.22396T>C	XP_006715486.1:p.Phe7466Leu
XM_006715424.1:c.22396T>C	XP_006715487.1:p.Phe7466Leu
XM_006715425.1:c.22396T>C	XP_006715488.1:p.Phe7466Leu
XM_011535641.1:c.22393T>C	XP_011533943.1:p.Phe7465Leu
XM_011535642.1:c.22381T>C	XP_011533944.1:p.Phe7461Leu
XM_011535643.1:c.22231T>C	XP_011533945.1:p.Phe7411Leu
XM_011535644.1:c.20671T>C	XP_011533946.1:p.Phe6891Leu
XM_011535645.1:c.20164T>C	XP_011533947.1:p.Phe6722Leu
XM_011535647.1:c.15631T>C	XP_011533949.1:p.Phe5211Leu
XM_006715408.2:c.22384T>C	XP_006715471.1:p.Phe7462Leu
XM_006715410.2:c.22396T>C	XP_006715473.1:p.Phe7466Leu
XM_006715412.2:c.22381T>C	XP_006715475.1:p.Phe7461Leu
XM_006715413.2:c.22396T>C	XP_006715476.1:p.Phe7466Leu
XM_006715415.2:c.22396T>C	XP_006715478.1:p.Phe7466Leu
XM_006715416.2:c.22381T>C	XP_006715479.1:p.Phe7461Leu
XM_006715417.2:c.22255T>C	XP_006715480.1:p.Phe7419Leu
XM_006715420.2:c.22243T>C	XP_006715483.1:p.Phe7415Leu
XM_006715421.2:c.22240T>C	XP_006715484.1:p.Phe7414Leu
XM_006715423.2:c.22396T>C	XP_006715486.1:p.Phe7466Leu
XM_006715424.2:c.22396T>C	XP_006715487.1:p.Phe7466Leu
XM_006715425.2:c.22396T>C	XP_006715488.1:p.Phe7466Leu
XM_011535641.2:c.22393T>C	XP_011533943.1:p.Phe7465Leu
XM_011535642.2:c.22381T>C	XP_011533944.1:p.Phe7461Leu
XM_011535645.2:c.20164T>C	XP_011533947.1:p.Phe6722Leu
XM_017010608.1:c.22396T>C	XP_016866097.1:p.Phe7466Leu
XM_017010609.1:c.22396T>C	XP_016866098.1:p.Phe7466Leu
XM_017010610.1:c.22375T>C	XP_016866099.1:p.Phe7459Leu
XM_017010611.2:c.22369T>C	XP_016866100.1:p.Phe7457Leu
XM_017010612.1:c.22318T>C	XP_016866101.1:p.Phe7440Leu
XM_017010613.1:c.22393T>C	XP_016866102.1:p.Phe7465Leu
XM_017010614.1:c.22240T>C	XP_016866103.1:p.Phe7414Leu
XM_017010615.1:c.22240T>C	XP_016866104.1:p.Phe7414Leu
XM_017010616.1:c.22396T>C	XP_016866105.1:p.Phe7466Leu
XM_017010617.1:c.22393T>C	XP_016866106.1:p.Phe7465Leu
XM_017010618.1:c.22381T>C	XP_016866107.1:p.Phe7461Leu
XM_017010619.1:c.20671T>C	XP_016866108.1:p.Phe6891Leu
NM_182961.4:c.22360T>C MANE Select	NP_892006.3:p.Phe7454Leu
NM_033071.5:c.22147T>C	NP_149062.2:p.Phe7383Leu