Canonical Allele Identifier: CA150165637

Gene: SYNE1

Linked Data

• dbSNP Id: rs777547263
• MyVariant Identifiers: chr6:g.152461269T>A (hg19) ; chr6:g.152140134T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140134T>A , CM000668.2:g.152140134T>A	GRCh38
NC_000006.11:g.152461269T>A , CM000668.1:g.152461269T>A	GRCh37
NC_000006.10:g.152502962T>A	NCBI36
NG_012855.1:g.502266A>T
NG_012855.2:g.502266A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1808A>T MANE Plus Clinical	ENSP00000346701.4:p.Gln603Leu
ENST00000367255.10:c.25274A>T MANE Select	ENSP00000356224.5:p.Gln8425Leu
ENST00000423061.6:c.25130A>T	ENSP00000396024.1:p.Gln8377Leu
ENST00000672154.1:c.676A>T
ENST00000672169.1:c.1009A>T
ENST00000673173.1:c.918A>T
ENST00000673451.1:c.1046A>T	ENSP00000500189.1:p.Gln349Leu
ENST00000341594.9:c.24059A>T	ENSP00000341887.6:p.Gln8020Leu
ENST00000347037.9:n.2022A>T
ENST00000354674.4:c.1808A>T	ENSP00000346701.4:p.Gln603Leu
ENST00000367251.7:c.4109A>T	ENSP00000356220.3:p.Gln1370Leu
ENST00000367255.9:c.25274A>T	ENSP00000356224.5:p.Gln8425Leu
ENST00000367256.9:n.8966A>T
ENST00000367257.8:c.3212A>T	ENSP00000356226.4:p.Gln1071Leu
ENST00000409694.6:n.8858A>T
ENST00000423061.5:c.25130A>T	ENSP00000396024.1:p.Gln8377Leu
ENST00000460912.6:n.1888A>T
ENST00000478916.5:n.4296A>T
ENST00000536990.5:n.2111A>T
ENST00000539504.5:c.1739A>T	ENSP00000441052.1:p.Gln580Leu
NM_033071.3:c.25130A>T	NP_149062.1:p.Gln8377Leu
NM_182961.3:c.25274A>T	NP_892006.3:p.Gln8425Leu
XM_006715407.1:c.25379A>T	XP_006715470.1:p.Gln8460Leu
XM_006715408.1:c.25367A>T	XP_006715471.1:p.Gln8456Leu
XM_006715409.1:c.25358A>T	XP_006715472.1:p.Gln8453Leu
XM_006715410.1:c.25379A>T	XP_006715473.1:p.Gln8460Leu
XM_006715411.1:c.25328A>T	XP_006715474.1:p.Gln8443Leu
XM_006715412.1:c.25364A>T	XP_006715475.1:p.Gln8455Leu
XM_006715413.1:c.25310A>T	XP_006715476.1:p.Gln8437Leu
XM_006715414.1:c.25307A>T	XP_006715477.1:p.Gln8436Leu
XM_006715415.1:c.25310A>T	XP_006715478.1:p.Gln8437Leu
XM_006715416.1:c.25295A>T	XP_006715479.1:p.Gln8432Leu
XM_006715417.1:c.25238A>T	XP_006715480.1:p.Gln8413Leu
XM_006715420.1:c.25226A>T	XP_006715483.1:p.Gln8409Leu
XM_006715421.1:c.25223A>T	XP_006715484.1:p.Gln8408Leu
XM_006715422.1:c.25220A>T	XP_006715485.1:p.Gln8407Leu
XM_006715423.1:c.25379A>T	XP_006715486.1:p.Gln8460Leu
XM_006715424.1:c.25379A>T	XP_006715487.1:p.Gln8460Leu
XM_006715425.1:c.25310A>T	XP_006715488.1:p.Gln8437Leu
XM_011535641.1:c.25376A>T	XP_011533943.1:p.Gln8459Leu
XM_011535642.1:c.25364A>T	XP_011533944.1:p.Gln8455Leu
XM_011535643.1:c.25214A>T	XP_011533945.1:p.Gln8405Leu
XM_011535644.1:c.23654A>T	XP_011533946.1:p.Gln7885Leu
XM_011535645.1:c.23147A>T	XP_011533947.1:p.Gln7716Leu
XM_011535647.1:c.18614A>T	XP_011533949.1:p.Gln6205Leu
NM_001347701.1:c.1880A>T	NP_001334630.1:p.Gln627Leu
NM_001347702.1:c.1808A>T	NP_001334631.1:p.Gln603Leu
XM_006715408.2:c.25367A>T	XP_006715471.1:p.Gln8456Leu
XM_006715410.2:c.25379A>T	XP_006715473.1:p.Gln8460Leu
XM_006715412.2:c.25364A>T	XP_006715475.1:p.Gln8455Leu
XM_006715413.2:c.25310A>T	XP_006715476.1:p.Gln8437Leu
XM_006715415.2:c.25310A>T	XP_006715478.1:p.Gln8437Leu
XM_006715416.2:c.25295A>T	XP_006715479.1:p.Gln8432Leu
XM_006715417.2:c.25238A>T	XP_006715480.1:p.Gln8413Leu
XM_006715420.2:c.25226A>T	XP_006715483.1:p.Gln8409Leu
XM_006715421.2:c.25223A>T	XP_006715484.1:p.Gln8408Leu
XM_006715423.2:c.25379A>T	XP_006715486.1:p.Gln8460Leu
XM_006715424.2:c.25379A>T	XP_006715487.1:p.Gln8460Leu
XM_006715425.2:c.25310A>T	XP_006715488.1:p.Gln8437Leu
XM_011535641.2:c.25376A>T	XP_011533943.1:p.Gln8459Leu
XM_011535642.2:c.25364A>T	XP_011533944.1:p.Gln8455Leu
XM_011535645.2:c.23147A>T	XP_011533947.1:p.Gln7716Leu
XM_017010608.1:c.25379A>T	XP_016866097.1:p.Gln8460Leu
XM_017010609.1:c.25379A>T	XP_016866098.1:p.Gln8460Leu
XM_017010610.1:c.25358A>T	XP_016866099.1:p.Gln8453Leu
XM_017010611.2:c.25352A>T	XP_016866100.1:p.Gln8451Leu
XM_017010612.1:c.25301A>T	XP_016866101.1:p.Gln8434Leu
XM_017010613.1:c.25307A>T	XP_016866102.1:p.Gln8436Leu
XM_017010614.1:c.25223A>T	XP_016866103.1:p.Gln8408Leu
XM_017010615.1:c.25154A>T	XP_016866104.1:p.Gln8385Leu
XM_017010616.1:c.25310A>T	XP_016866105.1:p.Gln8437Leu
XM_017010617.1:c.25307A>T	XP_016866106.1:p.Gln8436Leu
XM_017010618.1:c.25295A>T	XP_016866107.1:p.Gln8432Leu
XM_017010619.1:c.23654A>T	XP_016866108.1:p.Gln7885Leu
NM_182961.4:c.25274A>T MANE Select	NP_892006.3:p.Gln8425Leu
NM_001347701.2:c.1880A>T	NP_001334630.1:p.Gln627Leu
NM_001347702.2:c.1808A>T MANE Plus Clinical	NP_001334631.1:p.Gln603Leu
NM_033071.5:c.25130A>T	NP_149062.2:p.Gln8377Leu