Canonical Allele Identifier: CA366080331

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 2085656
• ClinVar RCV Id: RCV002996386
• MyVariant Identifiers: chr6:g.152461184C>T (hg19) ; chr6:g.152140049C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140049C>T , CM000668.2:g.152140049C>T	GRCh38
NC_000006.11:g.152461184C>T , CM000668.1:g.152461184C>T	GRCh37
NC_000006.10:g.152502877C>T	NCBI36
NG_012855.1:g.502351G>A
NG_012855.2:g.502351G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1893G>A MANE Plus Clinical	ENSP00000346701.4:p.Trp631Ter
ENST00000367255.10:c.25359G>A MANE Select	ENSP00000356224.5:p.Trp8453Ter
ENST00000423061.6:c.25215G>A	ENSP00000396024.1:p.Trp8405Ter
ENST00000672154.1:c.761G>A
ENST00000672169.1:c.1094G>A
ENST00000673173.1:c.1003G>A
ENST00000673451.1:c.1131G>A	ENSP00000500189.1:p.Trp377Ter
ENST00000341594.9:c.24144G>A	ENSP00000341887.6:p.Trp8048Ter
ENST00000347037.9:n.2107G>A
ENST00000354674.4:c.1893G>A	ENSP00000346701.4:p.Trp631Ter
ENST00000367251.7:c.4194G>A	ENSP00000356220.3:p.Trp1398Ter
ENST00000367255.9:c.25359G>A	ENSP00000356224.5:p.Trp8453Ter
ENST00000367256.9:n.9051G>A
ENST00000367257.8:c.3297G>A	ENSP00000356226.4:p.Trp1099Ter
ENST00000409694.6:n.8943G>A
ENST00000423061.5:c.25215G>A	ENSP00000396024.1:p.Trp8405Ter
ENST00000460912.6:n.1973G>A
ENST00000478916.5:n.4381G>A
ENST00000536990.5:n.2196G>A
ENST00000539504.5:c.1824G>A	ENSP00000441052.1:p.Trp608Ter
NM_033071.3:c.25215G>A	NP_149062.1:p.Trp8405Ter
NM_182961.3:c.25359G>A	NP_892006.3:p.Trp8453Ter
XM_006715407.1:c.25464G>A	XP_006715470.1:p.Trp8488Ter
XM_006715408.1:c.25452G>A	XP_006715471.1:p.Trp8484Ter
XM_006715409.1:c.25443G>A	XP_006715472.1:p.Trp8481Ter
XM_006715410.1:c.25464G>A	XP_006715473.1:p.Trp8488Ter
XM_006715411.1:c.25413G>A	XP_006715474.1:p.Trp8471Ter
XM_006715412.1:c.25449G>A	XP_006715475.1:p.Trp8483Ter
XM_006715413.1:c.25395G>A	XP_006715476.1:p.Trp8465Ter
XM_006715414.1:c.25392G>A	XP_006715477.1:p.Trp8464Ter
XM_006715415.1:c.25395G>A	XP_006715478.1:p.Trp8465Ter
XM_006715416.1:c.25380G>A	XP_006715479.1:p.Trp8460Ter
XM_006715417.1:c.25323G>A	XP_006715480.1:p.Trp8441Ter
XM_006715420.1:c.25311G>A	XP_006715483.1:p.Trp8437Ter
XM_006715421.1:c.25308G>A	XP_006715484.1:p.Trp8436Ter
XM_006715422.1:c.25305G>A	XP_006715485.1:p.Trp8435Ter
XM_006715423.1:c.25464G>A	XP_006715486.1:p.Trp8488Ter
XM_006715424.1:c.25464G>A	XP_006715487.1:p.Trp8488Ter
XM_006715425.1:c.25395G>A	XP_006715488.1:p.Trp8465Ter
XM_011535641.1:c.25461G>A	XP_011533943.1:p.Trp8487Ter
XM_011535642.1:c.25449G>A	XP_011533944.1:p.Trp8483Ter
XM_011535643.1:c.25299G>A	XP_011533945.1:p.Trp8433Ter
XM_011535644.1:c.23739G>A	XP_011533946.1:p.Trp7913Ter
XM_011535645.1:c.23232G>A	XP_011533947.1:p.Trp7744Ter
XM_011535647.1:c.18699G>A	XP_011533949.1:p.Trp6233Ter
NM_001347701.1:c.1965G>A	NP_001334630.1:p.Trp655Ter
NM_001347702.1:c.1893G>A	NP_001334631.1:p.Trp631Ter
XM_006715408.2:c.25452G>A	XP_006715471.1:p.Trp8484Ter
XM_006715410.2:c.25464G>A	XP_006715473.1:p.Trp8488Ter
XM_006715412.2:c.25449G>A	XP_006715475.1:p.Trp8483Ter
XM_006715413.2:c.25395G>A	XP_006715476.1:p.Trp8465Ter
XM_006715415.2:c.25395G>A	XP_006715478.1:p.Trp8465Ter
XM_006715416.2:c.25380G>A	XP_006715479.1:p.Trp8460Ter
XM_006715417.2:c.25323G>A	XP_006715480.1:p.Trp8441Ter
XM_006715420.2:c.25311G>A	XP_006715483.1:p.Trp8437Ter
XM_006715421.2:c.25308G>A	XP_006715484.1:p.Trp8436Ter
XM_006715423.2:c.25464G>A	XP_006715486.1:p.Trp8488Ter
XM_006715424.2:c.25464G>A	XP_006715487.1:p.Trp8488Ter
XM_006715425.2:c.25395G>A	XP_006715488.1:p.Trp8465Ter
XM_011535641.2:c.25461G>A	XP_011533943.1:p.Trp8487Ter
XM_011535642.2:c.25449G>A	XP_011533944.1:p.Trp8483Ter
XM_011535645.2:c.23232G>A	XP_011533947.1:p.Trp7744Ter
XM_017010608.1:c.25464G>A	XP_016866097.1:p.Trp8488Ter
XM_017010609.1:c.25464G>A	XP_016866098.1:p.Trp8488Ter
XM_017010610.1:c.25443G>A	XP_016866099.1:p.Trp8481Ter
XM_017010611.2:c.25437G>A	XP_016866100.1:p.Trp8479Ter
XM_017010612.1:c.25386G>A	XP_016866101.1:p.Trp8462Ter
XM_017010613.1:c.25392G>A	XP_016866102.1:p.Trp8464Ter
XM_017010614.1:c.25308G>A	XP_016866103.1:p.Trp8436Ter
XM_017010615.1:c.25239G>A	XP_016866104.1:p.Trp8413Ter
XM_017010616.1:c.25395G>A	XP_016866105.1:p.Trp8465Ter
XM_017010617.1:c.25392G>A	XP_016866106.1:p.Trp8464Ter
XM_017010618.1:c.25380G>A	XP_016866107.1:p.Trp8460Ter
XM_017010619.1:c.23739G>A	XP_016866108.1:p.Trp7913Ter
NM_182961.4:c.25359G>A MANE Select	NP_892006.3:p.Trp8453Ter
NM_001347701.2:c.1965G>A	NP_001334630.1:p.Trp655Ter
NM_001347702.2:c.1893G>A MANE Plus Clinical	NP_001334631.1:p.Trp631Ter
NM_033071.5:c.25215G>A	NP_149062.2:p.Trp8405Ter