Canonical Allele Identifier: CA366080781

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461248T>A (hg19) ; chr6:g.152140113T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140113T>A , CM000668.2:g.152140113T>A	GRCh38
NC_000006.11:g.152461248T>A , CM000668.1:g.152461248T>A	GRCh37
NC_000006.10:g.152502941T>A	NCBI36
NG_012855.1:g.502287A>T
NG_012855.2:g.502287A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1829A>T MANE Plus Clinical	ENSP00000346701.4:p.Glu610Val
ENST00000367255.10:c.25295A>T MANE Select	ENSP00000356224.5:p.Glu8432Val
ENST00000423061.6:c.25151A>T	ENSP00000396024.1:p.Glu8384Val
ENST00000672154.1:c.697A>T
ENST00000672169.1:c.1030A>T
ENST00000673173.1:c.939A>T
ENST00000673451.1:c.1067A>T	ENSP00000500189.1:p.Glu356Val
ENST00000341594.9:c.24080A>T	ENSP00000341887.6:p.Glu8027Val
ENST00000347037.9:n.2043A>T
ENST00000354674.4:c.1829A>T	ENSP00000346701.4:p.Glu610Val
ENST00000367251.7:c.4130A>T	ENSP00000356220.3:p.Glu1377Val
ENST00000367255.9:c.25295A>T	ENSP00000356224.5:p.Glu8432Val
ENST00000367256.9:n.8987A>T
ENST00000367257.8:c.3233A>T	ENSP00000356226.4:p.Glu1078Val
ENST00000409694.6:n.8879A>T
ENST00000423061.5:c.25151A>T	ENSP00000396024.1:p.Glu8384Val
ENST00000460912.6:n.1909A>T
ENST00000478916.5:n.4317A>T
ENST00000536990.5:n.2132A>T
ENST00000539504.5:c.1760A>T	ENSP00000441052.1:p.Glu587Val
NM_033071.3:c.25151A>T	NP_149062.1:p.Glu8384Val
NM_182961.3:c.25295A>T	NP_892006.3:p.Glu8432Val
XM_006715407.1:c.25400A>T	XP_006715470.1:p.Glu8467Val
XM_006715408.1:c.25388A>T	XP_006715471.1:p.Glu8463Val
XM_006715409.1:c.25379A>T	XP_006715472.1:p.Glu8460Val
XM_006715410.1:c.25400A>T	XP_006715473.1:p.Glu8467Val
XM_006715411.1:c.25349A>T	XP_006715474.1:p.Glu8450Val
XM_006715412.1:c.25385A>T	XP_006715475.1:p.Glu8462Val
XM_006715413.1:c.25331A>T	XP_006715476.1:p.Glu8444Val
XM_006715414.1:c.25328A>T	XP_006715477.1:p.Glu8443Val
XM_006715415.1:c.25331A>T	XP_006715478.1:p.Glu8444Val
XM_006715416.1:c.25316A>T	XP_006715479.1:p.Glu8439Val
XM_006715417.1:c.25259A>T	XP_006715480.1:p.Glu8420Val
XM_006715420.1:c.25247A>T	XP_006715483.1:p.Glu8416Val
XM_006715421.1:c.25244A>T	XP_006715484.1:p.Glu8415Val
XM_006715422.1:c.25241A>T	XP_006715485.1:p.Glu8414Val
XM_006715423.1:c.25400A>T	XP_006715486.1:p.Glu8467Val
XM_006715424.1:c.25400A>T	XP_006715487.1:p.Glu8467Val
XM_006715425.1:c.25331A>T	XP_006715488.1:p.Glu8444Val
XM_011535641.1:c.25397A>T	XP_011533943.1:p.Glu8466Val
XM_011535642.1:c.25385A>T	XP_011533944.1:p.Glu8462Val
XM_011535643.1:c.25235A>T	XP_011533945.1:p.Glu8412Val
XM_011535644.1:c.23675A>T	XP_011533946.1:p.Glu7892Val
XM_011535645.1:c.23168A>T	XP_011533947.1:p.Glu7723Val
XM_011535647.1:c.18635A>T	XP_011533949.1:p.Glu6212Val
NM_001347701.1:c.1901A>T	NP_001334630.1:p.Glu634Val
NM_001347702.1:c.1829A>T	NP_001334631.1:p.Glu610Val
XM_006715408.2:c.25388A>T	XP_006715471.1:p.Glu8463Val
XM_006715410.2:c.25400A>T	XP_006715473.1:p.Glu8467Val
XM_006715412.2:c.25385A>T	XP_006715475.1:p.Glu8462Val
XM_006715413.2:c.25331A>T	XP_006715476.1:p.Glu8444Val
XM_006715415.2:c.25331A>T	XP_006715478.1:p.Glu8444Val
XM_006715416.2:c.25316A>T	XP_006715479.1:p.Glu8439Val
XM_006715417.2:c.25259A>T	XP_006715480.1:p.Glu8420Val
XM_006715420.2:c.25247A>T	XP_006715483.1:p.Glu8416Val
XM_006715421.2:c.25244A>T	XP_006715484.1:p.Glu8415Val
XM_006715423.2:c.25400A>T	XP_006715486.1:p.Glu8467Val
XM_006715424.2:c.25400A>T	XP_006715487.1:p.Glu8467Val
XM_006715425.2:c.25331A>T	XP_006715488.1:p.Glu8444Val
XM_011535641.2:c.25397A>T	XP_011533943.1:p.Glu8466Val
XM_011535642.2:c.25385A>T	XP_011533944.1:p.Glu8462Val
XM_011535645.2:c.23168A>T	XP_011533947.1:p.Glu7723Val
XM_017010608.1:c.25400A>T	XP_016866097.1:p.Glu8467Val
XM_017010609.1:c.25400A>T	XP_016866098.1:p.Glu8467Val
XM_017010610.1:c.25379A>T	XP_016866099.1:p.Glu8460Val
XM_017010611.2:c.25373A>T	XP_016866100.1:p.Glu8458Val
XM_017010612.1:c.25322A>T	XP_016866101.1:p.Glu8441Val
XM_017010613.1:c.25328A>T	XP_016866102.1:p.Glu8443Val
XM_017010614.1:c.25244A>T	XP_016866103.1:p.Glu8415Val
XM_017010615.1:c.25175A>T	XP_016866104.1:p.Glu8392Val
XM_017010616.1:c.25331A>T	XP_016866105.1:p.Glu8444Val
XM_017010617.1:c.25328A>T	XP_016866106.1:p.Glu8443Val
XM_017010618.1:c.25316A>T	XP_016866107.1:p.Glu8439Val
XM_017010619.1:c.23675A>T	XP_016866108.1:p.Glu7892Val
NM_182961.4:c.25295A>T MANE Select	NP_892006.3:p.Glu8432Val
NM_001347701.2:c.1901A>T	NP_001334630.1:p.Glu634Val
NM_001347702.2:c.1829A>T MANE Plus Clinical	NP_001334631.1:p.Glu610Val
NM_033071.5:c.25151A>T	NP_149062.2:p.Glu8384Val