Canonical Allele Identifier: CA366080361

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152140053-A-G
• MyVariant Identifiers: chr6:g.152461188A>G (hg19) ; chr6:g.152140053A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140053A>G , CM000668.2:g.152140053A>G	GRCh38
NC_000006.11:g.152461188A>G , CM000668.1:g.152461188A>G	GRCh37
NC_000006.10:g.152502881A>G	NCBI36
NG_012855.1:g.502347T>C
NG_012855.2:g.502347T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1889T>C MANE Plus Clinical	ENSP00000346701.4:p.Ile630Thr
ENST00000367255.10:c.25355T>C MANE Select	ENSP00000356224.5:p.Ile8452Thr
ENST00000423061.6:c.25211T>C	ENSP00000396024.1:p.Ile8404Thr
ENST00000672154.1:c.757T>C
ENST00000672169.1:c.1090T>C
ENST00000673173.1:c.999T>C
ENST00000673451.1:c.1127T>C	ENSP00000500189.1:p.Ile376Thr
ENST00000341594.9:c.24140T>C	ENSP00000341887.6:p.Ile8047Thr
ENST00000347037.9:n.2103T>C
ENST00000354674.4:c.1889T>C	ENSP00000346701.4:p.Ile630Thr
ENST00000367251.7:c.4190T>C	ENSP00000356220.3:p.Ile1397Thr
ENST00000367255.9:c.25355T>C	ENSP00000356224.5:p.Ile8452Thr
ENST00000367256.9:n.9047T>C
ENST00000367257.8:c.3293T>C	ENSP00000356226.4:p.Ile1098Thr
ENST00000409694.6:n.8939T>C
ENST00000423061.5:c.25211T>C	ENSP00000396024.1:p.Ile8404Thr
ENST00000460912.6:n.1969T>C
ENST00000478916.5:n.4377T>C
ENST00000536990.5:n.2192T>C
ENST00000539504.5:c.1820T>C	ENSP00000441052.1:p.Ile607Thr
NM_033071.3:c.25211T>C	NP_149062.1:p.Ile8404Thr
NM_182961.3:c.25355T>C	NP_892006.3:p.Ile8452Thr
XM_006715407.1:c.25460T>C	XP_006715470.1:p.Ile8487Thr
XM_006715408.1:c.25448T>C	XP_006715471.1:p.Ile8483Thr
XM_006715409.1:c.25439T>C	XP_006715472.1:p.Ile8480Thr
XM_006715410.1:c.25460T>C	XP_006715473.1:p.Ile8487Thr
XM_006715411.1:c.25409T>C	XP_006715474.1:p.Ile8470Thr
XM_006715412.1:c.25445T>C	XP_006715475.1:p.Ile8482Thr
XM_006715413.1:c.25391T>C	XP_006715476.1:p.Ile8464Thr
XM_006715414.1:c.25388T>C	XP_006715477.1:p.Ile8463Thr
XM_006715415.1:c.25391T>C	XP_006715478.1:p.Ile8464Thr
XM_006715416.1:c.25376T>C	XP_006715479.1:p.Ile8459Thr
XM_006715417.1:c.25319T>C	XP_006715480.1:p.Ile8440Thr
XM_006715420.1:c.25307T>C	XP_006715483.1:p.Ile8436Thr
XM_006715421.1:c.25304T>C	XP_006715484.1:p.Ile8435Thr
XM_006715422.1:c.25301T>C	XP_006715485.1:p.Ile8434Thr
XM_006715423.1:c.25460T>C	XP_006715486.1:p.Ile8487Thr
XM_006715424.1:c.25460T>C	XP_006715487.1:p.Ile8487Thr
XM_006715425.1:c.25391T>C	XP_006715488.1:p.Ile8464Thr
XM_011535641.1:c.25457T>C	XP_011533943.1:p.Ile8486Thr
XM_011535642.1:c.25445T>C	XP_011533944.1:p.Ile8482Thr
XM_011535643.1:c.25295T>C	XP_011533945.1:p.Ile8432Thr
XM_011535644.1:c.23735T>C	XP_011533946.1:p.Ile7912Thr
XM_011535645.1:c.23228T>C	XP_011533947.1:p.Ile7743Thr
XM_011535647.1:c.18695T>C	XP_011533949.1:p.Ile6232Thr
NM_001347701.1:c.1961T>C	NP_001334630.1:p.Ile654Thr
NM_001347702.1:c.1889T>C	NP_001334631.1:p.Ile630Thr
XM_006715408.2:c.25448T>C	XP_006715471.1:p.Ile8483Thr
XM_006715410.2:c.25460T>C	XP_006715473.1:p.Ile8487Thr
XM_006715412.2:c.25445T>C	XP_006715475.1:p.Ile8482Thr
XM_006715413.2:c.25391T>C	XP_006715476.1:p.Ile8464Thr
XM_006715415.2:c.25391T>C	XP_006715478.1:p.Ile8464Thr
XM_006715416.2:c.25376T>C	XP_006715479.1:p.Ile8459Thr
XM_006715417.2:c.25319T>C	XP_006715480.1:p.Ile8440Thr
XM_006715420.2:c.25307T>C	XP_006715483.1:p.Ile8436Thr
XM_006715421.2:c.25304T>C	XP_006715484.1:p.Ile8435Thr
XM_006715423.2:c.25460T>C	XP_006715486.1:p.Ile8487Thr
XM_006715424.2:c.25460T>C	XP_006715487.1:p.Ile8487Thr
XM_006715425.2:c.25391T>C	XP_006715488.1:p.Ile8464Thr
XM_011535641.2:c.25457T>C	XP_011533943.1:p.Ile8486Thr
XM_011535642.2:c.25445T>C	XP_011533944.1:p.Ile8482Thr
XM_011535645.2:c.23228T>C	XP_011533947.1:p.Ile7743Thr
XM_017010608.1:c.25460T>C	XP_016866097.1:p.Ile8487Thr
XM_017010609.1:c.25460T>C	XP_016866098.1:p.Ile8487Thr
XM_017010610.1:c.25439T>C	XP_016866099.1:p.Ile8480Thr
XM_017010611.2:c.25433T>C	XP_016866100.1:p.Ile8478Thr
XM_017010612.1:c.25382T>C	XP_016866101.1:p.Ile8461Thr
XM_017010613.1:c.25388T>C	XP_016866102.1:p.Ile8463Thr
XM_017010614.1:c.25304T>C	XP_016866103.1:p.Ile8435Thr
XM_017010615.1:c.25235T>C	XP_016866104.1:p.Ile8412Thr
XM_017010616.1:c.25391T>C	XP_016866105.1:p.Ile8464Thr
XM_017010617.1:c.25388T>C	XP_016866106.1:p.Ile8463Thr
XM_017010618.1:c.25376T>C	XP_016866107.1:p.Ile8459Thr
XM_017010619.1:c.23735T>C	XP_016866108.1:p.Ile7912Thr
NM_182961.4:c.25355T>C MANE Select	NP_892006.3:p.Ile8452Thr
NM_001347701.2:c.1961T>C	NP_001334630.1:p.Ile654Thr
NM_001347702.2:c.1889T>C MANE Plus Clinical	NP_001334631.1:p.Ile630Thr
NM_033071.5:c.25211T>C	NP_149062.2:p.Ile8404Thr