Canonical Allele Identifier: CA366083309

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464881C>A (hg19) ; chr6:g.152143746C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143746C>A , CM000668.2:g.152143746C>A	GRCh38
NC_000006.11:g.152464881C>A , CM000668.1:g.152464881C>A	GRCh37
NC_000006.10:g.152506574C>A	NCBI36
NG_012855.1:g.498654G>T
NG_012855.2:g.498654G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1530G>T MANE Plus Clinical	ENSP00000346701.4:p.Glu510Asp
ENST00000367255.10:c.24996G>T MANE Select	ENSP00000356224.5:p.Glu8332Asp
ENST00000423061.6:c.24852G>T	ENSP00000396024.1:p.Glu8284Asp
ENST00000672154.1:c.398G>T
ENST00000672169.1:c.731G>T
ENST00000673173.1:c.891-3585G>T
ENST00000673451.1:c.768G>T	ENSP00000500189.1:p.Glu256Asp
ENST00000341594.9:c.23781G>T	ENSP00000341887.6:p.Glu7927Asp
ENST00000347037.9:n.1744G>T
ENST00000354674.4:c.1530G>T	ENSP00000346701.4:p.Glu510Asp
ENST00000367251.7:c.3831G>T	ENSP00000356220.3:p.Glu1277Asp
ENST00000367255.9:c.24996G>T	ENSP00000356224.5:p.Glu8332Asp
ENST00000367256.9:n.8688G>T
ENST00000367257.8:c.2934G>T	ENSP00000356226.4:p.Glu978Asp
ENST00000409694.6:n.8580G>T
ENST00000423061.5:c.24852G>T	ENSP00000396024.1:p.Glu8284Asp
ENST00000460912.6:n.1610G>T
ENST00000478916.5:n.4018G>T
ENST00000536990.5:n.1833G>T
ENST00000539504.5:c.1461G>T	ENSP00000441052.1:p.Glu487Asp
NM_033071.3:c.24852G>T	NP_149062.1:p.Glu8284Asp
NM_182961.3:c.24996G>T	NP_892006.3:p.Glu8332Asp
XM_006715407.1:c.25101G>T	XP_006715470.1:p.Glu8367Asp
XM_006715408.1:c.25089G>T	XP_006715471.1:p.Glu8363Asp
XM_006715409.1:c.25080G>T	XP_006715472.1:p.Glu8360Asp
XM_006715410.1:c.25101G>T	XP_006715473.1:p.Glu8367Asp
XM_006715411.1:c.25050G>T	XP_006715474.1:p.Glu8350Asp
XM_006715412.1:c.25086G>T	XP_006715475.1:p.Glu8362Asp
XM_006715413.1:c.25032G>T	XP_006715476.1:p.Glu8344Asp
XM_006715414.1:c.25029G>T	XP_006715477.1:p.Glu8343Asp
XM_006715415.1:c.25032G>T	XP_006715478.1:p.Glu8344Asp
XM_006715416.1:c.25017G>T	XP_006715479.1:p.Glu8339Asp
XM_006715417.1:c.24960G>T	XP_006715480.1:p.Glu8320Asp
XM_006715420.1:c.24948G>T	XP_006715483.1:p.Glu8316Asp
XM_006715421.1:c.24945G>T	XP_006715484.1:p.Glu8315Asp
XM_006715422.1:c.24942G>T	XP_006715485.1:p.Glu8314Asp
XM_006715423.1:c.25101G>T	XP_006715486.1:p.Glu8367Asp
XM_006715424.1:c.25101G>T	XP_006715487.1:p.Glu8367Asp
XM_006715425.1:c.25032G>T	XP_006715488.1:p.Glu8344Asp
XM_011535641.1:c.25098G>T	XP_011533943.1:p.Glu8366Asp
XM_011535642.1:c.25086G>T	XP_011533944.1:p.Glu8362Asp
XM_011535643.1:c.24936G>T	XP_011533945.1:p.Glu8312Asp
XM_011535644.1:c.23376G>T	XP_011533946.1:p.Glu7792Asp
XM_011535645.1:c.22869G>T	XP_011533947.1:p.Glu7623Asp
XM_011535647.1:c.18336G>T	XP_011533949.1:p.Glu6112Asp
NM_001347701.1:c.1602G>T	NP_001334630.1:p.Glu534Asp
NM_001347702.1:c.1530G>T	NP_001334631.1:p.Glu510Asp
XM_006715408.2:c.25089G>T	XP_006715471.1:p.Glu8363Asp
XM_006715410.2:c.25101G>T	XP_006715473.1:p.Glu8367Asp
XM_006715412.2:c.25086G>T	XP_006715475.1:p.Glu8362Asp
XM_006715413.2:c.25032G>T	XP_006715476.1:p.Glu8344Asp
XM_006715415.2:c.25032G>T	XP_006715478.1:p.Glu8344Asp
XM_006715416.2:c.25017G>T	XP_006715479.1:p.Glu8339Asp
XM_006715417.2:c.24960G>T	XP_006715480.1:p.Glu8320Asp
XM_006715420.2:c.24948G>T	XP_006715483.1:p.Glu8316Asp
XM_006715421.2:c.24945G>T	XP_006715484.1:p.Glu8315Asp
XM_006715423.2:c.25101G>T	XP_006715486.1:p.Glu8367Asp
XM_006715424.2:c.25101G>T	XP_006715487.1:p.Glu8367Asp
XM_006715425.2:c.25032G>T	XP_006715488.1:p.Glu8344Asp
XM_011535641.2:c.25098G>T	XP_011533943.1:p.Glu8366Asp
XM_011535642.2:c.25086G>T	XP_011533944.1:p.Glu8362Asp
XM_011535645.2:c.22869G>T	XP_011533947.1:p.Glu7623Asp
XM_017010608.1:c.25101G>T	XP_016866097.1:p.Glu8367Asp
XM_017010609.1:c.25101G>T	XP_016866098.1:p.Glu8367Asp
XM_017010610.1:c.25080G>T	XP_016866099.1:p.Glu8360Asp
XM_017010611.2:c.25074G>T	XP_016866100.1:p.Glu8358Asp
XM_017010612.1:c.25023G>T	XP_016866101.1:p.Glu8341Asp
XM_017010613.1:c.25029G>T	XP_016866102.1:p.Glu8343Asp
XM_017010614.1:c.24945G>T	XP_016866103.1:p.Glu8315Asp
XM_017010615.1:c.24876G>T	XP_016866104.1:p.Glu8292Asp
XM_017010616.1:c.25032G>T	XP_016866105.1:p.Glu8344Asp
XM_017010617.1:c.25029G>T	XP_016866106.1:p.Glu8343Asp
XM_017010618.1:c.25017G>T	XP_016866107.1:p.Glu8339Asp
XM_017010619.1:c.23376G>T	XP_016866108.1:p.Glu7792Asp
NM_182961.4:c.24996G>T MANE Select	NP_892006.3:p.Glu8332Asp
NM_001347701.2:c.1602G>T	NP_001334630.1:p.Glu534Asp
NM_001347702.2:c.1530G>T MANE Plus Clinical	NP_001334631.1:p.Glu510Asp
NM_033071.5:c.24852G>T	NP_149062.2:p.Glu8284Asp