Canonical Allele Identifier: CA366080284

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461176A>T (hg19) ; chr6:g.152140041A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140041A>T , CM000668.2:g.152140041A>T	GRCh38
NC_000006.11:g.152461176A>T , CM000668.1:g.152461176A>T	GRCh37
NC_000006.10:g.152502869A>T	NCBI36
NG_012855.1:g.502359T>A
NG_012855.2:g.502359T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1901T>A MANE Plus Clinical	ENSP00000346701.4:p.Leu634Gln
ENST00000367255.10:c.25367T>A MANE Select	ENSP00000356224.5:p.Leu8456Gln
ENST00000423061.6:c.25223T>A	ENSP00000396024.1:p.Leu8408Gln
ENST00000672154.1:c.769T>A
ENST00000672169.1:c.1102T>A
ENST00000673173.1:c.1011T>A
ENST00000673451.1:c.1139T>A	ENSP00000500189.1:p.Leu380Gln
ENST00000341594.9:c.24152T>A	ENSP00000341887.6:p.Leu8051Gln
ENST00000347037.9:n.2115T>A
ENST00000354674.4:c.1901T>A	ENSP00000346701.4:p.Leu634Gln
ENST00000367251.7:c.4202T>A	ENSP00000356220.3:p.Leu1401Gln
ENST00000367255.9:c.25367T>A	ENSP00000356224.5:p.Leu8456Gln
ENST00000367256.9:n.9059T>A
ENST00000367257.8:c.3305T>A	ENSP00000356226.4:p.Leu1102Gln
ENST00000409694.6:n.8951T>A
ENST00000423061.5:c.25223T>A	ENSP00000396024.1:p.Leu8408Gln
ENST00000460912.6:n.1981T>A
ENST00000478916.5:n.4389T>A
ENST00000536990.5:n.2204T>A
ENST00000539504.5:c.1832T>A	ENSP00000441052.1:p.Leu611Gln
NM_033071.3:c.25223T>A	NP_149062.1:p.Leu8408Gln
NM_182961.3:c.25367T>A	NP_892006.3:p.Leu8456Gln
XM_006715407.1:c.25472T>A	XP_006715470.1:p.Leu8491Gln
XM_006715408.1:c.25460T>A	XP_006715471.1:p.Leu8487Gln
XM_006715409.1:c.25451T>A	XP_006715472.1:p.Leu8484Gln
XM_006715410.1:c.25472T>A	XP_006715473.1:p.Leu8491Gln
XM_006715411.1:c.25421T>A	XP_006715474.1:p.Leu8474Gln
XM_006715412.1:c.25457T>A	XP_006715475.1:p.Leu8486Gln
XM_006715413.1:c.25403T>A	XP_006715476.1:p.Leu8468Gln
XM_006715414.1:c.25400T>A	XP_006715477.1:p.Leu8467Gln
XM_006715415.1:c.25403T>A	XP_006715478.1:p.Leu8468Gln
XM_006715416.1:c.25388T>A	XP_006715479.1:p.Leu8463Gln
XM_006715417.1:c.25331T>A	XP_006715480.1:p.Leu8444Gln
XM_006715420.1:c.25319T>A	XP_006715483.1:p.Leu8440Gln
XM_006715421.1:c.25316T>A	XP_006715484.1:p.Leu8439Gln
XM_006715422.1:c.25313T>A	XP_006715485.1:p.Leu8438Gln
XM_006715423.1:c.25472T>A	XP_006715486.1:p.Leu8491Gln
XM_006715424.1:c.25472T>A	XP_006715487.1:p.Leu8491Gln
XM_006715425.1:c.25403T>A	XP_006715488.1:p.Leu8468Gln
XM_011535641.1:c.25469T>A	XP_011533943.1:p.Leu8490Gln
XM_011535642.1:c.25457T>A	XP_011533944.1:p.Leu8486Gln
XM_011535643.1:c.25307T>A	XP_011533945.1:p.Leu8436Gln
XM_011535644.1:c.23747T>A	XP_011533946.1:p.Leu7916Gln
XM_011535645.1:c.23240T>A	XP_011533947.1:p.Leu7747Gln
XM_011535647.1:c.18707T>A	XP_011533949.1:p.Leu6236Gln
NM_001347701.1:c.1973T>A	NP_001334630.1:p.Leu658Gln
NM_001347702.1:c.1901T>A	NP_001334631.1:p.Leu634Gln
XM_006715408.2:c.25460T>A	XP_006715471.1:p.Leu8487Gln
XM_006715410.2:c.25472T>A	XP_006715473.1:p.Leu8491Gln
XM_006715412.2:c.25457T>A	XP_006715475.1:p.Leu8486Gln
XM_006715413.2:c.25403T>A	XP_006715476.1:p.Leu8468Gln
XM_006715415.2:c.25403T>A	XP_006715478.1:p.Leu8468Gln
XM_006715416.2:c.25388T>A	XP_006715479.1:p.Leu8463Gln
XM_006715417.2:c.25331T>A	XP_006715480.1:p.Leu8444Gln
XM_006715420.2:c.25319T>A	XP_006715483.1:p.Leu8440Gln
XM_006715421.2:c.25316T>A	XP_006715484.1:p.Leu8439Gln
XM_006715423.2:c.25472T>A	XP_006715486.1:p.Leu8491Gln
XM_006715424.2:c.25472T>A	XP_006715487.1:p.Leu8491Gln
XM_006715425.2:c.25403T>A	XP_006715488.1:p.Leu8468Gln
XM_011535641.2:c.25469T>A	XP_011533943.1:p.Leu8490Gln
XM_011535642.2:c.25457T>A	XP_011533944.1:p.Leu8486Gln
XM_011535645.2:c.23240T>A	XP_011533947.1:p.Leu7747Gln
XM_017010608.1:c.25472T>A	XP_016866097.1:p.Leu8491Gln
XM_017010609.1:c.25472T>A	XP_016866098.1:p.Leu8491Gln
XM_017010610.1:c.25451T>A	XP_016866099.1:p.Leu8484Gln
XM_017010611.2:c.25445T>A	XP_016866100.1:p.Leu8482Gln
XM_017010612.1:c.25394T>A	XP_016866101.1:p.Leu8465Gln
XM_017010613.1:c.25400T>A	XP_016866102.1:p.Leu8467Gln
XM_017010614.1:c.25316T>A	XP_016866103.1:p.Leu8439Gln
XM_017010615.1:c.25247T>A	XP_016866104.1:p.Leu8416Gln
XM_017010616.1:c.25403T>A	XP_016866105.1:p.Leu8468Gln
XM_017010617.1:c.25400T>A	XP_016866106.1:p.Leu8467Gln
XM_017010618.1:c.25388T>A	XP_016866107.1:p.Leu8463Gln
XM_017010619.1:c.23747T>A	XP_016866108.1:p.Leu7916Gln
NM_182961.4:c.25367T>A MANE Select	NP_892006.3:p.Leu8456Gln
NM_001347701.2:c.1973T>A	NP_001334630.1:p.Leu658Gln
NM_001347702.2:c.1901T>A MANE Plus Clinical	NP_001334631.1:p.Leu634Gln
NM_033071.5:c.25223T>A	NP_149062.2:p.Leu8408Gln