Canonical Allele Identifier: CA366083284

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464874T>G (hg19) ; chr6:g.152143739T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143739T>G , CM000668.2:g.152143739T>G	GRCh38
NC_000006.11:g.152464874T>G , CM000668.1:g.152464874T>G	GRCh37
NC_000006.10:g.152506567T>G	NCBI36
NG_012855.1:g.498661A>C
NG_012855.2:g.498661A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1537A>C MANE Plus Clinical	ENSP00000346701.4:p.Ile513Leu
ENST00000367255.10:c.25003A>C MANE Select	ENSP00000356224.5:p.Ile8335Leu
ENST00000423061.6:c.24859A>C	ENSP00000396024.1:p.Ile8287Leu
ENST00000672154.1:c.405A>C
ENST00000672169.1:c.738A>C
ENST00000673173.1:c.891-3578A>C
ENST00000673451.1:c.775A>C	ENSP00000500189.1:p.Ile259Leu
ENST00000341594.9:c.23788A>C	ENSP00000341887.6:p.Ile7930Leu
ENST00000347037.9:n.1751A>C
ENST00000354674.4:c.1537A>C	ENSP00000346701.4:p.Ile513Leu
ENST00000367251.7:c.3838A>C	ENSP00000356220.3:p.Ile1280Leu
ENST00000367255.9:c.25003A>C	ENSP00000356224.5:p.Ile8335Leu
ENST00000367256.9:n.8695A>C
ENST00000367257.8:c.2941A>C	ENSP00000356226.4:p.Ile981Leu
ENST00000409694.6:n.8587A>C
ENST00000423061.5:c.24859A>C	ENSP00000396024.1:p.Ile8287Leu
ENST00000460912.6:n.1617A>C
ENST00000478916.5:n.4025A>C
ENST00000536990.5:n.1840A>C
ENST00000539504.5:c.1468A>C	ENSP00000441052.1:p.Ile490Leu
NM_033071.3:c.24859A>C	NP_149062.1:p.Ile8287Leu
NM_182961.3:c.25003A>C	NP_892006.3:p.Ile8335Leu
XM_006715407.1:c.25108A>C	XP_006715470.1:p.Ile8370Leu
XM_006715408.1:c.25096A>C	XP_006715471.1:p.Ile8366Leu
XM_006715409.1:c.25087A>C	XP_006715472.1:p.Ile8363Leu
XM_006715410.1:c.25108A>C	XP_006715473.1:p.Ile8370Leu
XM_006715411.1:c.25057A>C	XP_006715474.1:p.Ile8353Leu
XM_006715412.1:c.25093A>C	XP_006715475.1:p.Ile8365Leu
XM_006715413.1:c.25039A>C	XP_006715476.1:p.Ile8347Leu
XM_006715414.1:c.25036A>C	XP_006715477.1:p.Ile8346Leu
XM_006715415.1:c.25039A>C	XP_006715478.1:p.Ile8347Leu
XM_006715416.1:c.25024A>C	XP_006715479.1:p.Ile8342Leu
XM_006715417.1:c.24967A>C	XP_006715480.1:p.Ile8323Leu
XM_006715420.1:c.24955A>C	XP_006715483.1:p.Ile8319Leu
XM_006715421.1:c.24952A>C	XP_006715484.1:p.Ile8318Leu
XM_006715422.1:c.24949A>C	XP_006715485.1:p.Ile8317Leu
XM_006715423.1:c.25108A>C	XP_006715486.1:p.Ile8370Leu
XM_006715424.1:c.25108A>C	XP_006715487.1:p.Ile8370Leu
XM_006715425.1:c.25039A>C	XP_006715488.1:p.Ile8347Leu
XM_011535641.1:c.25105A>C	XP_011533943.1:p.Ile8369Leu
XM_011535642.1:c.25093A>C	XP_011533944.1:p.Ile8365Leu
XM_011535643.1:c.24943A>C	XP_011533945.1:p.Ile8315Leu
XM_011535644.1:c.23383A>C	XP_011533946.1:p.Ile7795Leu
XM_011535645.1:c.22876A>C	XP_011533947.1:p.Ile7626Leu
XM_011535647.1:c.18343A>C	XP_011533949.1:p.Ile6115Leu
NM_001347701.1:c.1609A>C	NP_001334630.1:p.Ile537Leu
NM_001347702.1:c.1537A>C	NP_001334631.1:p.Ile513Leu
XM_006715408.2:c.25096A>C	XP_006715471.1:p.Ile8366Leu
XM_006715410.2:c.25108A>C	XP_006715473.1:p.Ile8370Leu
XM_006715412.2:c.25093A>C	XP_006715475.1:p.Ile8365Leu
XM_006715413.2:c.25039A>C	XP_006715476.1:p.Ile8347Leu
XM_006715415.2:c.25039A>C	XP_006715478.1:p.Ile8347Leu
XM_006715416.2:c.25024A>C	XP_006715479.1:p.Ile8342Leu
XM_006715417.2:c.24967A>C	XP_006715480.1:p.Ile8323Leu
XM_006715420.2:c.24955A>C	XP_006715483.1:p.Ile8319Leu
XM_006715421.2:c.24952A>C	XP_006715484.1:p.Ile8318Leu
XM_006715423.2:c.25108A>C	XP_006715486.1:p.Ile8370Leu
XM_006715424.2:c.25108A>C	XP_006715487.1:p.Ile8370Leu
XM_006715425.2:c.25039A>C	XP_006715488.1:p.Ile8347Leu
XM_011535641.2:c.25105A>C	XP_011533943.1:p.Ile8369Leu
XM_011535642.2:c.25093A>C	XP_011533944.1:p.Ile8365Leu
XM_011535645.2:c.22876A>C	XP_011533947.1:p.Ile7626Leu
XM_017010608.1:c.25108A>C	XP_016866097.1:p.Ile8370Leu
XM_017010609.1:c.25108A>C	XP_016866098.1:p.Ile8370Leu
XM_017010610.1:c.25087A>C	XP_016866099.1:p.Ile8363Leu
XM_017010611.2:c.25081A>C	XP_016866100.1:p.Ile8361Leu
XM_017010612.1:c.25030A>C	XP_016866101.1:p.Ile8344Leu
XM_017010613.1:c.25036A>C	XP_016866102.1:p.Ile8346Leu
XM_017010614.1:c.24952A>C	XP_016866103.1:p.Ile8318Leu
XM_017010615.1:c.24883A>C	XP_016866104.1:p.Ile8295Leu
XM_017010616.1:c.25039A>C	XP_016866105.1:p.Ile8347Leu
XM_017010617.1:c.25036A>C	XP_016866106.1:p.Ile8346Leu
XM_017010618.1:c.25024A>C	XP_016866107.1:p.Ile8342Leu
XM_017010619.1:c.23383A>C	XP_016866108.1:p.Ile7795Leu
NM_182961.4:c.25003A>C MANE Select	NP_892006.3:p.Ile8335Leu
NM_001347701.2:c.1609A>C	NP_001334630.1:p.Ile537Leu
NM_001347702.2:c.1537A>C MANE Plus Clinical	NP_001334631.1:p.Ile513Leu
NM_033071.5:c.24859A>C	NP_149062.2:p.Ile8287Leu