Canonical Allele Identifier: CA366136962

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152368971-C-T
• MyVariant Identifiers: chr6:g.152690106C>T (hg19) ; chr6:g.152368971C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152368971C>T , CM000668.2:g.152368971C>T	GRCh38
NC_000006.11:g.152690106C>T , CM000668.1:g.152690106C>T	GRCh37
NC_000006.10:g.152731799C>T	NCBI36
NG_012855.1:g.273429G>A
NG_012855.2:g.273429G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000454018.7:c.1158+1G>A	ENSP00000390858.4:n.1158+1G>A
ENST00000367255.10:c.9807+1G>A MANE Select	ENSP00000356224.5:n.9807+1G>A
ENST00000423061.6:c.9828+1G>A	ENSP00000396024.1:n.9828+1G>A
ENST00000341594.9:c.9873+1G>A	ENSP00000341887.6:n.9873+1G>A
ENST00000367255.9:c.9807+1G>A	ENSP00000356224.5:n.9807+1G>A
ENST00000423061.5:c.9828+1G>A	ENSP00000396024.1:n.9828+1G>A
ENST00000454018.6:c.1155+1G>A	ENSP00000390858.3:n.1155+1G>A
ENST00000469439.1:c.244+500G>A
ENST00000471834.1:n.1357G>A
NM_033071.3:c.9828+1G>A	NP_149062.1:n.9828+1G>A
NM_182961.3:c.9807+1G>A	NP_892006.3:n.9807+1G>A
XM_006715407.1:c.9828+1G>A	XP_006715470.1:n.9828+1G>A
XM_006715408.1:c.9828+1G>A	XP_006715471.1:n.9828+1G>A
XM_006715409.1:c.9807+1G>A	XP_006715472.1:n.9807+1G>A
XM_006715410.1:c.9828+1G>A	XP_006715473.1:n.9828+1G>A
XM_006715411.1:c.9777+1G>A	XP_006715474.1:n.9777+1G>A
XM_006715412.1:c.9828+1G>A	XP_006715475.1:n.9828+1G>A
XM_006715413.1:c.9828+1G>A	XP_006715476.1:n.9828+1G>A
XM_006715414.1:c.9756+1G>A	XP_006715477.1:n.9756+1G>A
XM_006715415.1:c.9828+1G>A	XP_006715478.1:n.9828+1G>A
XM_006715416.1:c.9828+1G>A	XP_006715479.1:n.9828+1G>A
XM_006715417.1:c.9828+1G>A	XP_006715480.1:n.9828+1G>A
XM_006715420.1:c.9828+1G>A	XP_006715483.1:n.9828+1G>A
XM_006715421.1:c.9672+500G>A	XP_006715484.1:n.9672+500G>A
XM_006715422.1:c.9669+1G>A	XP_006715485.1:n.9669+1G>A
XM_006715423.1:c.9828+1G>A	XP_006715486.1:n.9828+1G>A
XM_006715424.1:c.9828+1G>A	XP_006715487.1:n.9828+1G>A
XM_006715425.1:c.9828+1G>A	XP_006715488.1:n.9828+1G>A
XM_011535641.1:c.9828+1G>A	XP_011533943.1:n.9828+1G>A
XM_011535642.1:c.9828+1G>A	XP_011533944.1:n.9828+1G>A
XM_011535643.1:c.9663+1G>A	XP_011533945.1:n.9663+1G>A
XM_011535644.1:c.8103+1G>A	XP_011533946.1:n.8103+1G>A
XM_011535645.1:c.7596+1G>A	XP_011533947.1:n.7596+1G>A
XM_011535646.1:c.9828+1G>A	XP_011533948.1:n.9828+1G>A
XM_011535647.1:c.3063+1G>A	XP_011533949.1:n.3063+1G>A
XM_006715408.2:c.9828+1G>A	XP_006715471.1:n.9828+1G>A
XM_006715410.2:c.9828+1G>A	XP_006715473.1:n.9828+1G>A
XM_006715412.2:c.9828+1G>A	XP_006715475.1:n.9828+1G>A
XM_006715413.2:c.9828+1G>A	XP_006715476.1:n.9828+1G>A
XM_006715415.2:c.9828+1G>A	XP_006715478.1:n.9828+1G>A
XM_006715416.2:c.9828+1G>A	XP_006715479.1:n.9828+1G>A
XM_006715417.2:c.9828+1G>A	XP_006715480.1:n.9828+1G>A
XM_006715420.2:c.9828+1G>A	XP_006715483.1:n.9828+1G>A
XM_006715421.2:c.9672+500G>A	XP_006715484.1:n.9672+500G>A
XM_006715423.2:c.9828+1G>A	XP_006715486.1:n.9828+1G>A
XM_006715424.2:c.9828+1G>A	XP_006715487.1:n.9828+1G>A
XM_006715425.2:c.9828+1G>A	XP_006715488.1:n.9828+1G>A
XM_011535641.2:c.9828+1G>A	XP_011533943.1:n.9828+1G>A
XM_011535642.2:c.9828+1G>A	XP_011533944.1:n.9828+1G>A
XM_011535645.2:c.7596+1G>A	XP_011533947.1:n.7596+1G>A
XM_017010608.1:c.9828+1G>A	XP_016866097.1:n.9828+1G>A
XM_017010609.1:c.9828+1G>A	XP_016866098.1:n.9828+1G>A
XM_017010610.1:c.9807+1G>A	XP_016866099.1:n.9807+1G>A
XM_017010611.2:c.9801+1G>A	XP_016866100.1:n.9801+1G>A
XM_017010612.1:c.9750+1G>A	XP_016866101.1:n.9750+1G>A
XM_017010613.1:c.9828+1G>A	XP_016866102.1:n.9828+1G>A
XM_017010614.1:c.9828+1G>A	XP_016866103.1:n.9828+1G>A
XM_017010615.1:c.9828+1G>A	XP_016866104.1:n.9828+1G>A
XM_017010616.1:c.9828+1G>A	XP_016866105.1:n.9828+1G>A
XM_017010617.1:c.9828+1G>A	XP_016866106.1:n.9828+1G>A
XM_017010618.1:c.9828+1G>A	XP_016866107.1:n.9828+1G>A
XM_017010619.1:c.8103+1G>A	XP_016866108.1:n.8103+1G>A
XR_001743287.1:n.10311+1G>A
NM_182961.4:c.9807+1G>A MANE Select	NP_892006.3:n.9807+1G>A
NM_033071.5:c.9828+1G>A	NP_149062.2:n.9828+1G>A