Canonical Allele Identifier: CA366099319

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152534828G>C (hg19) ; chr6:g.152213693G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213693G>C , CM000668.2:g.152213693G>C	GRCh38
NC_000006.11:g.152534828G>C , CM000668.1:g.152534828G>C	GRCh37
NC_000006.10:g.152576521G>C	NCBI36
NG_012855.1:g.428707C>G
NG_012855.2:g.428707C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22413C>G MANE Select	ENSP00000356224.5:p.Phe7471Leu
ENST00000423061.6:c.22200C>G	ENSP00000396024.1:p.Phe7400Leu
ENST00000341594.9:c.21198C>G	ENSP00000341887.6:p.Phe7066Leu
ENST00000367251.7:c.1179C>G	ENSP00000356220.3:p.Phe393Leu
ENST00000367255.9:c.22413C>G	ENSP00000356224.5:p.Phe7471Leu
ENST00000367256.9:n.6105C>G
ENST00000367257.8:c.351C>G	ENSP00000356226.4:p.Phe117Leu
ENST00000409694.6:n.5997C>G
ENST00000423061.5:c.22200C>G	ENSP00000396024.1:p.Phe7400Leu
NM_033071.3:c.22200C>G	NP_149062.1:p.Phe7400Leu
NM_182961.3:c.22413C>G	NP_892006.3:p.Phe7471Leu
XM_006715407.1:c.22449C>G	XP_006715470.1:p.Phe7483Leu
XM_006715408.1:c.22437C>G	XP_006715471.1:p.Phe7479Leu
XM_006715409.1:c.22428C>G	XP_006715472.1:p.Phe7476Leu
XM_006715410.1:c.22449C>G	XP_006715473.1:p.Phe7483Leu
XM_006715411.1:c.22398C>G	XP_006715474.1:p.Phe7466Leu
XM_006715412.1:c.22434C>G	XP_006715475.1:p.Phe7478Leu
XM_006715413.1:c.22449C>G	XP_006715476.1:p.Phe7483Leu
XM_006715414.1:c.22377C>G	XP_006715477.1:p.Phe7459Leu
XM_006715415.1:c.22449C>G	XP_006715478.1:p.Phe7483Leu
XM_006715416.1:c.22434C>G	XP_006715479.1:p.Phe7478Leu
XM_006715417.1:c.22308C>G	XP_006715480.1:p.Phe7436Leu
XM_006715420.1:c.22296C>G	XP_006715483.1:p.Phe7432Leu
XM_006715421.1:c.22293C>G	XP_006715484.1:p.Phe7431Leu
XM_006715422.1:c.22290C>G	XP_006715485.1:p.Phe7430Leu
XM_006715423.1:c.22449C>G	XP_006715486.1:p.Phe7483Leu
XM_006715424.1:c.22449C>G	XP_006715487.1:p.Phe7483Leu
XM_006715425.1:c.22449C>G	XP_006715488.1:p.Phe7483Leu
XM_011535641.1:c.22446C>G	XP_011533943.1:p.Phe7482Leu
XM_011535642.1:c.22434C>G	XP_011533944.1:p.Phe7478Leu
XM_011535643.1:c.22284C>G	XP_011533945.1:p.Phe7428Leu
XM_011535644.1:c.20724C>G	XP_011533946.1:p.Phe6908Leu
XM_011535645.1:c.20217C>G	XP_011533947.1:p.Phe6739Leu
XM_011535647.1:c.15684C>G	XP_011533949.1:p.Phe5228Leu
XM_006715408.2:c.22437C>G	XP_006715471.1:p.Phe7479Leu
XM_006715410.2:c.22449C>G	XP_006715473.1:p.Phe7483Leu
XM_006715412.2:c.22434C>G	XP_006715475.1:p.Phe7478Leu
XM_006715413.2:c.22449C>G	XP_006715476.1:p.Phe7483Leu
XM_006715415.2:c.22449C>G	XP_006715478.1:p.Phe7483Leu
XM_006715416.2:c.22434C>G	XP_006715479.1:p.Phe7478Leu
XM_006715417.2:c.22308C>G	XP_006715480.1:p.Phe7436Leu
XM_006715420.2:c.22296C>G	XP_006715483.1:p.Phe7432Leu
XM_006715421.2:c.22293C>G	XP_006715484.1:p.Phe7431Leu
XM_006715423.2:c.22449C>G	XP_006715486.1:p.Phe7483Leu
XM_006715424.2:c.22449C>G	XP_006715487.1:p.Phe7483Leu
XM_006715425.2:c.22449C>G	XP_006715488.1:p.Phe7483Leu
XM_011535641.2:c.22446C>G	XP_011533943.1:p.Phe7482Leu
XM_011535642.2:c.22434C>G	XP_011533944.1:p.Phe7478Leu
XM_011535645.2:c.20217C>G	XP_011533947.1:p.Phe6739Leu
XM_017010608.1:c.22449C>G	XP_016866097.1:p.Phe7483Leu
XM_017010609.1:c.22449C>G	XP_016866098.1:p.Phe7483Leu
XM_017010610.1:c.22428C>G	XP_016866099.1:p.Phe7476Leu
XM_017010611.2:c.22422C>G	XP_016866100.1:p.Phe7474Leu
XM_017010612.1:c.22371C>G	XP_016866101.1:p.Phe7457Leu
XM_017010613.1:c.22446C>G	XP_016866102.1:p.Phe7482Leu
XM_017010614.1:c.22293C>G	XP_016866103.1:p.Phe7431Leu
XM_017010615.1:c.22293C>G	XP_016866104.1:p.Phe7431Leu
XM_017010616.1:c.22449C>G	XP_016866105.1:p.Phe7483Leu
XM_017010617.1:c.22446C>G	XP_016866106.1:p.Phe7482Leu
XM_017010618.1:c.22434C>G	XP_016866107.1:p.Phe7478Leu
XM_017010619.1:c.20724C>G	XP_016866108.1:p.Phe6908Leu
NM_182961.4:c.22413C>G MANE Select	NP_892006.3:p.Phe7471Leu
NM_033071.5:c.22200C>G	NP_149062.2:p.Phe7400Leu