Canonical Allele Identifier: CA452969983

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461295A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140160A>T , CM000668.2:g.152140160A>T	GRCh38
NC_000006.11:g.152461295A>T , CM000668.1:g.152461295A>T	GRCh37
NC_000006.10:g.152502988A>T	NCBI36
NG_012855.1:g.502240T>A
NG_012855.2:g.502240T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1782T>A MANE Plus Clinical	ENSP00000346701.4:p.Gly594=
ENST00000367255.10:c.25248T>A MANE Select	ENSP00000356224.5:p.Gly8416=
ENST00000423061.6:c.25104T>A	ENSP00000396024.1:p.Gly8368=
ENST00000672154.1:c.650T>A
ENST00000672169.1:c.983T>A
ENST00000673173.1:c.892T>A
ENST00000673451.1:c.1020T>A	ENSP00000500189.1:p.Gly340=
ENST00000341594.9:c.24033T>A	ENSP00000341887.6:p.Gly8011=
ENST00000347037.9:n.1996T>A
ENST00000354674.4:c.1782T>A	ENSP00000346701.4:p.Gly594=
ENST00000367251.7:c.4083T>A	ENSP00000356220.3:p.Gly1361=
ENST00000367255.9:c.25248T>A	ENSP00000356224.5:p.Gly8416=
ENST00000367256.9:n.8940T>A
ENST00000367257.8:c.3186T>A	ENSP00000356226.4:p.Gly1062=
ENST00000409694.6:n.8832T>A
ENST00000423061.5:c.25104T>A	ENSP00000396024.1:p.Gly8368=
ENST00000460912.6:n.1862T>A
ENST00000478916.5:n.4270T>A
ENST00000536990.5:n.2085T>A
ENST00000539504.5:c.1713T>A	ENSP00000441052.1:p.Gly571=
NM_033071.3:c.25104T>A	NP_149062.1:p.Gly8368=
NM_182961.3:c.25248T>A	NP_892006.3:p.Gly8416=
XM_006715407.1:c.25353T>A	XP_006715470.1:p.Gly8451=
XM_006715408.1:c.25341T>A	XP_006715471.1:p.Gly8447=
XM_006715409.1:c.25332T>A	XP_006715472.1:p.Gly8444=
XM_006715410.1:c.25353T>A	XP_006715473.1:p.Gly8451=
XM_006715411.1:c.25302T>A	XP_006715474.1:p.Gly8434=
XM_006715412.1:c.25338T>A	XP_006715475.1:p.Gly8446=
XM_006715413.1:c.25284T>A	XP_006715476.1:p.Gly8428=
XM_006715414.1:c.25281T>A	XP_006715477.1:p.Gly8427=
XM_006715415.1:c.25284T>A	XP_006715478.1:p.Gly8428=
XM_006715416.1:c.25269T>A	XP_006715479.1:p.Gly8423=
XM_006715417.1:c.25212T>A	XP_006715480.1:p.Gly8404=
XM_006715420.1:c.25200T>A	XP_006715483.1:p.Gly8400=
XM_006715421.1:c.25197T>A	XP_006715484.1:p.Gly8399=
XM_006715422.1:c.25194T>A	XP_006715485.1:p.Gly8398=
XM_006715423.1:c.25353T>A	XP_006715486.1:p.Gly8451=
XM_006715424.1:c.25353T>A	XP_006715487.1:p.Gly8451=
XM_006715425.1:c.25284T>A	XP_006715488.1:p.Gly8428=
XM_011535641.1:c.25350T>A	XP_011533943.1:p.Gly8450=
XM_011535642.1:c.25338T>A	XP_011533944.1:p.Gly8446=
XM_011535643.1:c.25188T>A	XP_011533945.1:p.Gly8396=
XM_011535644.1:c.23628T>A	XP_011533946.1:p.Gly7876=
XM_011535645.1:c.23121T>A	XP_011533947.1:p.Gly7707=
XM_011535647.1:c.18588T>A	XP_011533949.1:p.Gly6196=
NM_001347701.1:c.1854T>A	NP_001334630.1:p.Gly618=
NM_001347702.1:c.1782T>A	NP_001334631.1:p.Gly594=
XM_006715408.2:c.25341T>A	XP_006715471.1:p.Gly8447=
XM_006715410.2:c.25353T>A	XP_006715473.1:p.Gly8451=
XM_006715412.2:c.25338T>A	XP_006715475.1:p.Gly8446=
XM_006715413.2:c.25284T>A	XP_006715476.1:p.Gly8428=
XM_006715415.2:c.25284T>A	XP_006715478.1:p.Gly8428=
XM_006715416.2:c.25269T>A	XP_006715479.1:p.Gly8423=
XM_006715417.2:c.25212T>A	XP_006715480.1:p.Gly8404=
XM_006715420.2:c.25200T>A	XP_006715483.1:p.Gly8400=
XM_006715421.2:c.25197T>A	XP_006715484.1:p.Gly8399=
XM_006715423.2:c.25353T>A	XP_006715486.1:p.Gly8451=
XM_006715424.2:c.25353T>A	XP_006715487.1:p.Gly8451=
XM_006715425.2:c.25284T>A	XP_006715488.1:p.Gly8428=
XM_011535641.2:c.25350T>A	XP_011533943.1:p.Gly8450=
XM_011535642.2:c.25338T>A	XP_011533944.1:p.Gly8446=
XM_011535645.2:c.23121T>A	XP_011533947.1:p.Gly7707=
XM_017010608.1:c.25353T>A	XP_016866097.1:p.Gly8451=
XM_017010609.1:c.25353T>A	XP_016866098.1:p.Gly8451=
XM_017010610.1:c.25332T>A	XP_016866099.1:p.Gly8444=
XM_017010611.2:c.25326T>A	XP_016866100.1:p.Gly8442=
XM_017010612.1:c.25275T>A	XP_016866101.1:p.Gly8425=
XM_017010613.1:c.25281T>A	XP_016866102.1:p.Gly8427=
XM_017010614.1:c.25197T>A	XP_016866103.1:p.Gly8399=
XM_017010615.1:c.25128T>A	XP_016866104.1:p.Gly8376=
XM_017010616.1:c.25284T>A	XP_016866105.1:p.Gly8428=
XM_017010617.1:c.25281T>A	XP_016866106.1:p.Gly8427=
XM_017010618.1:c.25269T>A	XP_016866107.1:p.Gly8423=
XM_017010619.1:c.23628T>A	XP_016866108.1:p.Gly7876=
NM_182961.4:c.25248T>A MANE Select	NP_892006.3:p.Gly8416=
NM_001347701.2:c.1854T>A	NP_001334630.1:p.Gly618=
NM_001347702.2:c.1782T>A MANE Plus Clinical	NP_001334631.1:p.Gly594=
NM_033071.5:c.25104T>A	NP_149062.2:p.Gly8368=