Canonical Allele Identifier: CA366080838

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461257A>G (hg19) ; chr6:g.152140122A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140122A>G , CM000668.2:g.152140122A>G	GRCh38
NC_000006.11:g.152461257A>G , CM000668.1:g.152461257A>G	GRCh37
NC_000006.10:g.152502950A>G	NCBI36
NG_012855.1:g.502278T>C
NG_012855.2:g.502278T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1820T>C MANE Plus Clinical	ENSP00000346701.4:p.Leu607Ser
ENST00000367255.10:c.25286T>C MANE Select	ENSP00000356224.5:p.Leu8429Ser
ENST00000423061.6:c.25142T>C	ENSP00000396024.1:p.Leu8381Ser
ENST00000672154.1:c.688T>C
ENST00000672169.1:c.1021T>C
ENST00000673173.1:c.930T>C
ENST00000673451.1:c.1058T>C	ENSP00000500189.1:p.Leu353Ser
ENST00000341594.9:c.24071T>C	ENSP00000341887.6:p.Leu8024Ser
ENST00000347037.9:n.2034T>C
ENST00000354674.4:c.1820T>C	ENSP00000346701.4:p.Leu607Ser
ENST00000367251.7:c.4121T>C	ENSP00000356220.3:p.Leu1374Ser
ENST00000367255.9:c.25286T>C	ENSP00000356224.5:p.Leu8429Ser
ENST00000367256.9:n.8978T>C
ENST00000367257.8:c.3224T>C	ENSP00000356226.4:p.Leu1075Ser
ENST00000409694.6:n.8870T>C
ENST00000423061.5:c.25142T>C	ENSP00000396024.1:p.Leu8381Ser
ENST00000460912.6:n.1900T>C
ENST00000478916.5:n.4308T>C
ENST00000536990.5:n.2123T>C
ENST00000539504.5:c.1751T>C	ENSP00000441052.1:p.Leu584Ser
NM_033071.3:c.25142T>C	NP_149062.1:p.Leu8381Ser
NM_182961.3:c.25286T>C	NP_892006.3:p.Leu8429Ser
XM_006715407.1:c.25391T>C	XP_006715470.1:p.Leu8464Ser
XM_006715408.1:c.25379T>C	XP_006715471.1:p.Leu8460Ser
XM_006715409.1:c.25370T>C	XP_006715472.1:p.Leu8457Ser
XM_006715410.1:c.25391T>C	XP_006715473.1:p.Leu8464Ser
XM_006715411.1:c.25340T>C	XP_006715474.1:p.Leu8447Ser
XM_006715412.1:c.25376T>C	XP_006715475.1:p.Leu8459Ser
XM_006715413.1:c.25322T>C	XP_006715476.1:p.Leu8441Ser
XM_006715414.1:c.25319T>C	XP_006715477.1:p.Leu8440Ser
XM_006715415.1:c.25322T>C	XP_006715478.1:p.Leu8441Ser
XM_006715416.1:c.25307T>C	XP_006715479.1:p.Leu8436Ser
XM_006715417.1:c.25250T>C	XP_006715480.1:p.Leu8417Ser
XM_006715420.1:c.25238T>C	XP_006715483.1:p.Leu8413Ser
XM_006715421.1:c.25235T>C	XP_006715484.1:p.Leu8412Ser
XM_006715422.1:c.25232T>C	XP_006715485.1:p.Leu8411Ser
XM_006715423.1:c.25391T>C	XP_006715486.1:p.Leu8464Ser
XM_006715424.1:c.25391T>C	XP_006715487.1:p.Leu8464Ser
XM_006715425.1:c.25322T>C	XP_006715488.1:p.Leu8441Ser
XM_011535641.1:c.25388T>C	XP_011533943.1:p.Leu8463Ser
XM_011535642.1:c.25376T>C	XP_011533944.1:p.Leu8459Ser
XM_011535643.1:c.25226T>C	XP_011533945.1:p.Leu8409Ser
XM_011535644.1:c.23666T>C	XP_011533946.1:p.Leu7889Ser
XM_011535645.1:c.23159T>C	XP_011533947.1:p.Leu7720Ser
XM_011535647.1:c.18626T>C	XP_011533949.1:p.Leu6209Ser
NM_001347701.1:c.1892T>C	NP_001334630.1:p.Leu631Ser
NM_001347702.1:c.1820T>C	NP_001334631.1:p.Leu607Ser
XM_006715408.2:c.25379T>C	XP_006715471.1:p.Leu8460Ser
XM_006715410.2:c.25391T>C	XP_006715473.1:p.Leu8464Ser
XM_006715412.2:c.25376T>C	XP_006715475.1:p.Leu8459Ser
XM_006715413.2:c.25322T>C	XP_006715476.1:p.Leu8441Ser
XM_006715415.2:c.25322T>C	XP_006715478.1:p.Leu8441Ser
XM_006715416.2:c.25307T>C	XP_006715479.1:p.Leu8436Ser
XM_006715417.2:c.25250T>C	XP_006715480.1:p.Leu8417Ser
XM_006715420.2:c.25238T>C	XP_006715483.1:p.Leu8413Ser
XM_006715421.2:c.25235T>C	XP_006715484.1:p.Leu8412Ser
XM_006715423.2:c.25391T>C	XP_006715486.1:p.Leu8464Ser
XM_006715424.2:c.25391T>C	XP_006715487.1:p.Leu8464Ser
XM_006715425.2:c.25322T>C	XP_006715488.1:p.Leu8441Ser
XM_011535641.2:c.25388T>C	XP_011533943.1:p.Leu8463Ser
XM_011535642.2:c.25376T>C	XP_011533944.1:p.Leu8459Ser
XM_011535645.2:c.23159T>C	XP_011533947.1:p.Leu7720Ser
XM_017010608.1:c.25391T>C	XP_016866097.1:p.Leu8464Ser
XM_017010609.1:c.25391T>C	XP_016866098.1:p.Leu8464Ser
XM_017010610.1:c.25370T>C	XP_016866099.1:p.Leu8457Ser
XM_017010611.2:c.25364T>C	XP_016866100.1:p.Leu8455Ser
XM_017010612.1:c.25313T>C	XP_016866101.1:p.Leu8438Ser
XM_017010613.1:c.25319T>C	XP_016866102.1:p.Leu8440Ser
XM_017010614.1:c.25235T>C	XP_016866103.1:p.Leu8412Ser
XM_017010615.1:c.25166T>C	XP_016866104.1:p.Leu8389Ser
XM_017010616.1:c.25322T>C	XP_016866105.1:p.Leu8441Ser
XM_017010617.1:c.25319T>C	XP_016866106.1:p.Leu8440Ser
XM_017010618.1:c.25307T>C	XP_016866107.1:p.Leu8436Ser
XM_017010619.1:c.23666T>C	XP_016866108.1:p.Leu7889Ser
NM_182961.4:c.25286T>C MANE Select	NP_892006.3:p.Leu8429Ser
NM_001347701.2:c.1892T>C	NP_001334630.1:p.Leu631Ser
NM_001347702.2:c.1820T>C MANE Plus Clinical	NP_001334631.1:p.Leu607Ser
NM_033071.5:c.25142T>C	NP_149062.2:p.Leu8381Ser