Canonical Allele Identifier: CA366083319

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464883C>A (hg19) ; chr6:g.152143748C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143748C>A , CM000668.2:g.152143748C>A	GRCh38
NC_000006.11:g.152464883C>A , CM000668.1:g.152464883C>A	GRCh37
NC_000006.10:g.152506576C>A	NCBI36
NG_012855.1:g.498652G>T
NG_012855.2:g.498652G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1528G>T MANE Plus Clinical	ENSP00000346701.4:p.Glu510Ter
ENST00000367255.10:c.24994G>T MANE Select	ENSP00000356224.5:p.Glu8332Ter
ENST00000423061.6:c.24850G>T	ENSP00000396024.1:p.Glu8284Ter
ENST00000672154.1:c.396G>T
ENST00000672169.1:c.729G>T
ENST00000673173.1:c.891-3587G>T
ENST00000673451.1:c.766G>T	ENSP00000500189.1:p.Glu256Ter
ENST00000341594.9:c.23779G>T	ENSP00000341887.6:p.Glu7927Ter
ENST00000347037.9:n.1742G>T
ENST00000354674.4:c.1528G>T	ENSP00000346701.4:p.Glu510Ter
ENST00000367251.7:c.3829G>T	ENSP00000356220.3:p.Glu1277Ter
ENST00000367255.9:c.24994G>T	ENSP00000356224.5:p.Glu8332Ter
ENST00000367256.9:n.8686G>T
ENST00000367257.8:c.2932G>T	ENSP00000356226.4:p.Glu978Ter
ENST00000409694.6:n.8578G>T
ENST00000423061.5:c.24850G>T	ENSP00000396024.1:p.Glu8284Ter
ENST00000460912.6:n.1608G>T
ENST00000478916.5:n.4016G>T
ENST00000536990.5:n.1831G>T
ENST00000539504.5:c.1459G>T	ENSP00000441052.1:p.Glu487Ter
NM_033071.3:c.24850G>T	NP_149062.1:p.Glu8284Ter
NM_182961.3:c.24994G>T	NP_892006.3:p.Glu8332Ter
XM_006715407.1:c.25099G>T	XP_006715470.1:p.Glu8367Ter
XM_006715408.1:c.25087G>T	XP_006715471.1:p.Glu8363Ter
XM_006715409.1:c.25078G>T	XP_006715472.1:p.Glu8360Ter
XM_006715410.1:c.25099G>T	XP_006715473.1:p.Glu8367Ter
XM_006715411.1:c.25048G>T	XP_006715474.1:p.Glu8350Ter
XM_006715412.1:c.25084G>T	XP_006715475.1:p.Glu8362Ter
XM_006715413.1:c.25030G>T	XP_006715476.1:p.Glu8344Ter
XM_006715414.1:c.25027G>T	XP_006715477.1:p.Glu8343Ter
XM_006715415.1:c.25030G>T	XP_006715478.1:p.Glu8344Ter
XM_006715416.1:c.25015G>T	XP_006715479.1:p.Glu8339Ter
XM_006715417.1:c.24958G>T	XP_006715480.1:p.Glu8320Ter
XM_006715420.1:c.24946G>T	XP_006715483.1:p.Glu8316Ter
XM_006715421.1:c.24943G>T	XP_006715484.1:p.Glu8315Ter
XM_006715422.1:c.24940G>T	XP_006715485.1:p.Glu8314Ter
XM_006715423.1:c.25099G>T	XP_006715486.1:p.Glu8367Ter
XM_006715424.1:c.25099G>T	XP_006715487.1:p.Glu8367Ter
XM_006715425.1:c.25030G>T	XP_006715488.1:p.Glu8344Ter
XM_011535641.1:c.25096G>T	XP_011533943.1:p.Glu8366Ter
XM_011535642.1:c.25084G>T	XP_011533944.1:p.Glu8362Ter
XM_011535643.1:c.24934G>T	XP_011533945.1:p.Glu8312Ter
XM_011535644.1:c.23374G>T	XP_011533946.1:p.Glu7792Ter
XM_011535645.1:c.22867G>T	XP_011533947.1:p.Glu7623Ter
XM_011535647.1:c.18334G>T	XP_011533949.1:p.Glu6112Ter
NM_001347701.1:c.1600G>T	NP_001334630.1:p.Glu534Ter
NM_001347702.1:c.1528G>T	NP_001334631.1:p.Glu510Ter
XM_006715408.2:c.25087G>T	XP_006715471.1:p.Glu8363Ter
XM_006715410.2:c.25099G>T	XP_006715473.1:p.Glu8367Ter
XM_006715412.2:c.25084G>T	XP_006715475.1:p.Glu8362Ter
XM_006715413.2:c.25030G>T	XP_006715476.1:p.Glu8344Ter
XM_006715415.2:c.25030G>T	XP_006715478.1:p.Glu8344Ter
XM_006715416.2:c.25015G>T	XP_006715479.1:p.Glu8339Ter
XM_006715417.2:c.24958G>T	XP_006715480.1:p.Glu8320Ter
XM_006715420.2:c.24946G>T	XP_006715483.1:p.Glu8316Ter
XM_006715421.2:c.24943G>T	XP_006715484.1:p.Glu8315Ter
XM_006715423.2:c.25099G>T	XP_006715486.1:p.Glu8367Ter
XM_006715424.2:c.25099G>T	XP_006715487.1:p.Glu8367Ter
XM_006715425.2:c.25030G>T	XP_006715488.1:p.Glu8344Ter
XM_011535641.2:c.25096G>T	XP_011533943.1:p.Glu8366Ter
XM_011535642.2:c.25084G>T	XP_011533944.1:p.Glu8362Ter
XM_011535645.2:c.22867G>T	XP_011533947.1:p.Glu7623Ter
XM_017010608.1:c.25099G>T	XP_016866097.1:p.Glu8367Ter
XM_017010609.1:c.25099G>T	XP_016866098.1:p.Glu8367Ter
XM_017010610.1:c.25078G>T	XP_016866099.1:p.Glu8360Ter
XM_017010611.2:c.25072G>T	XP_016866100.1:p.Glu8358Ter
XM_017010612.1:c.25021G>T	XP_016866101.1:p.Glu8341Ter
XM_017010613.1:c.25027G>T	XP_016866102.1:p.Glu8343Ter
XM_017010614.1:c.24943G>T	XP_016866103.1:p.Glu8315Ter
XM_017010615.1:c.24874G>T	XP_016866104.1:p.Glu8292Ter
XM_017010616.1:c.25030G>T	XP_016866105.1:p.Glu8344Ter
XM_017010617.1:c.25027G>T	XP_016866106.1:p.Glu8343Ter
XM_017010618.1:c.25015G>T	XP_016866107.1:p.Glu8339Ter
XM_017010619.1:c.23374G>T	XP_016866108.1:p.Glu7792Ter
NM_182961.4:c.24994G>T MANE Select	NP_892006.3:p.Glu8332Ter
NM_001347701.2:c.1600G>T	NP_001334630.1:p.Glu534Ter
NM_001347702.2:c.1528G>T MANE Plus Clinical	NP_001334631.1:p.Glu510Ter
NM_033071.5:c.24850G>T	NP_149062.2:p.Glu8284Ter