Canonical Allele Identifier: CA366083289

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464876T>A (hg19) ; chr6:g.152143741T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143741T>A , CM000668.2:g.152143741T>A	GRCh38
NC_000006.11:g.152464876T>A , CM000668.1:g.152464876T>A	GRCh37
NC_000006.10:g.152506569T>A	NCBI36
NG_012855.1:g.498659A>T
NG_012855.2:g.498659A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1535A>T MANE Plus Clinical	ENSP00000346701.4:p.Gln512Leu
ENST00000367255.10:c.25001A>T MANE Select	ENSP00000356224.5:p.Gln8334Leu
ENST00000423061.6:c.24857A>T	ENSP00000396024.1:p.Gln8286Leu
ENST00000672154.1:c.403A>T
ENST00000672169.1:c.736A>T
ENST00000673173.1:c.891-3580A>T
ENST00000673451.1:c.773A>T	ENSP00000500189.1:p.Gln258Leu
ENST00000341594.9:c.23786A>T	ENSP00000341887.6:p.Gln7929Leu
ENST00000347037.9:n.1749A>T
ENST00000354674.4:c.1535A>T	ENSP00000346701.4:p.Gln512Leu
ENST00000367251.7:c.3836A>T	ENSP00000356220.3:p.Gln1279Leu
ENST00000367255.9:c.25001A>T	ENSP00000356224.5:p.Gln8334Leu
ENST00000367256.9:n.8693A>T
ENST00000367257.8:c.2939A>T	ENSP00000356226.4:p.Gln980Leu
ENST00000409694.6:n.8585A>T
ENST00000423061.5:c.24857A>T	ENSP00000396024.1:p.Gln8286Leu
ENST00000460912.6:n.1615A>T
ENST00000478916.5:n.4023A>T
ENST00000536990.5:n.1838A>T
ENST00000539504.5:c.1466A>T	ENSP00000441052.1:p.Gln489Leu
NM_033071.3:c.24857A>T	NP_149062.1:p.Gln8286Leu
NM_182961.3:c.25001A>T	NP_892006.3:p.Gln8334Leu
XM_006715407.1:c.25106A>T	XP_006715470.1:p.Gln8369Leu
XM_006715408.1:c.25094A>T	XP_006715471.1:p.Gln8365Leu
XM_006715409.1:c.25085A>T	XP_006715472.1:p.Gln8362Leu
XM_006715410.1:c.25106A>T	XP_006715473.1:p.Gln8369Leu
XM_006715411.1:c.25055A>T	XP_006715474.1:p.Gln8352Leu
XM_006715412.1:c.25091A>T	XP_006715475.1:p.Gln8364Leu
XM_006715413.1:c.25037A>T	XP_006715476.1:p.Gln8346Leu
XM_006715414.1:c.25034A>T	XP_006715477.1:p.Gln8345Leu
XM_006715415.1:c.25037A>T	XP_006715478.1:p.Gln8346Leu
XM_006715416.1:c.25022A>T	XP_006715479.1:p.Gln8341Leu
XM_006715417.1:c.24965A>T	XP_006715480.1:p.Gln8322Leu
XM_006715420.1:c.24953A>T	XP_006715483.1:p.Gln8318Leu
XM_006715421.1:c.24950A>T	XP_006715484.1:p.Gln8317Leu
XM_006715422.1:c.24947A>T	XP_006715485.1:p.Gln8316Leu
XM_006715423.1:c.25106A>T	XP_006715486.1:p.Gln8369Leu
XM_006715424.1:c.25106A>T	XP_006715487.1:p.Gln8369Leu
XM_006715425.1:c.25037A>T	XP_006715488.1:p.Gln8346Leu
XM_011535641.1:c.25103A>T	XP_011533943.1:p.Gln8368Leu
XM_011535642.1:c.25091A>T	XP_011533944.1:p.Gln8364Leu
XM_011535643.1:c.24941A>T	XP_011533945.1:p.Gln8314Leu
XM_011535644.1:c.23381A>T	XP_011533946.1:p.Gln7794Leu
XM_011535645.1:c.22874A>T	XP_011533947.1:p.Gln7625Leu
XM_011535647.1:c.18341A>T	XP_011533949.1:p.Gln6114Leu
NM_001347701.1:c.1607A>T	NP_001334630.1:p.Gln536Leu
NM_001347702.1:c.1535A>T	NP_001334631.1:p.Gln512Leu
XM_006715408.2:c.25094A>T	XP_006715471.1:p.Gln8365Leu
XM_006715410.2:c.25106A>T	XP_006715473.1:p.Gln8369Leu
XM_006715412.2:c.25091A>T	XP_006715475.1:p.Gln8364Leu
XM_006715413.2:c.25037A>T	XP_006715476.1:p.Gln8346Leu
XM_006715415.2:c.25037A>T	XP_006715478.1:p.Gln8346Leu
XM_006715416.2:c.25022A>T	XP_006715479.1:p.Gln8341Leu
XM_006715417.2:c.24965A>T	XP_006715480.1:p.Gln8322Leu
XM_006715420.2:c.24953A>T	XP_006715483.1:p.Gln8318Leu
XM_006715421.2:c.24950A>T	XP_006715484.1:p.Gln8317Leu
XM_006715423.2:c.25106A>T	XP_006715486.1:p.Gln8369Leu
XM_006715424.2:c.25106A>T	XP_006715487.1:p.Gln8369Leu
XM_006715425.2:c.25037A>T	XP_006715488.1:p.Gln8346Leu
XM_011535641.2:c.25103A>T	XP_011533943.1:p.Gln8368Leu
XM_011535642.2:c.25091A>T	XP_011533944.1:p.Gln8364Leu
XM_011535645.2:c.22874A>T	XP_011533947.1:p.Gln7625Leu
XM_017010608.1:c.25106A>T	XP_016866097.1:p.Gln8369Leu
XM_017010609.1:c.25106A>T	XP_016866098.1:p.Gln8369Leu
XM_017010610.1:c.25085A>T	XP_016866099.1:p.Gln8362Leu
XM_017010611.2:c.25079A>T	XP_016866100.1:p.Gln8360Leu
XM_017010612.1:c.25028A>T	XP_016866101.1:p.Gln8343Leu
XM_017010613.1:c.25034A>T	XP_016866102.1:p.Gln8345Leu
XM_017010614.1:c.24950A>T	XP_016866103.1:p.Gln8317Leu
XM_017010615.1:c.24881A>T	XP_016866104.1:p.Gln8294Leu
XM_017010616.1:c.25037A>T	XP_016866105.1:p.Gln8346Leu
XM_017010617.1:c.25034A>T	XP_016866106.1:p.Gln8345Leu
XM_017010618.1:c.25022A>T	XP_016866107.1:p.Gln8341Leu
XM_017010619.1:c.23381A>T	XP_016866108.1:p.Gln7794Leu
NM_182961.4:c.25001A>T MANE Select	NP_892006.3:p.Gln8334Leu
NM_001347701.2:c.1607A>T	NP_001334630.1:p.Gln536Leu
NM_001347702.2:c.1535A>T MANE Plus Clinical	NP_001334631.1:p.Gln512Leu
NM_033071.5:c.24857A>T	NP_149062.2:p.Gln8286Leu