Canonical Allele Identifier: CA366080318

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461182G>A (hg19) ; chr6:g.152140047G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140047G>A , CM000668.2:g.152140047G>A	GRCh38
NC_000006.11:g.152461182G>A , CM000668.1:g.152461182G>A	GRCh37
NC_000006.10:g.152502875G>A	NCBI36
NG_012855.1:g.502353C>T
NG_012855.2:g.502353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1895C>T MANE Plus Clinical	ENSP00000346701.4:p.Ala632Val
ENST00000367255.10:c.25361C>T MANE Select	ENSP00000356224.5:p.Ala8454Val
ENST00000423061.6:c.25217C>T	ENSP00000396024.1:p.Ala8406Val
ENST00000672154.1:c.763C>T
ENST00000672169.1:c.1096C>T
ENST00000673173.1:c.1005C>T
ENST00000673451.1:c.1133C>T	ENSP00000500189.1:p.Ala378Val
ENST00000341594.9:c.24146C>T	ENSP00000341887.6:p.Ala8049Val
ENST00000347037.9:n.2109C>T
ENST00000354674.4:c.1895C>T	ENSP00000346701.4:p.Ala632Val
ENST00000367251.7:c.4196C>T	ENSP00000356220.3:p.Ala1399Val
ENST00000367255.9:c.25361C>T	ENSP00000356224.5:p.Ala8454Val
ENST00000367256.9:n.9053C>T
ENST00000367257.8:c.3299C>T	ENSP00000356226.4:p.Ala1100Val
ENST00000409694.6:n.8945C>T
ENST00000423061.5:c.25217C>T	ENSP00000396024.1:p.Ala8406Val
ENST00000460912.6:n.1975C>T
ENST00000478916.5:n.4383C>T
ENST00000536990.5:n.2198C>T
ENST00000539504.5:c.1826C>T	ENSP00000441052.1:p.Ala609Val
NM_033071.3:c.25217C>T	NP_149062.1:p.Ala8406Val
NM_182961.3:c.25361C>T	NP_892006.3:p.Ala8454Val
XM_006715407.1:c.25466C>T	XP_006715470.1:p.Ala8489Val
XM_006715408.1:c.25454C>T	XP_006715471.1:p.Ala8485Val
XM_006715409.1:c.25445C>T	XP_006715472.1:p.Ala8482Val
XM_006715410.1:c.25466C>T	XP_006715473.1:p.Ala8489Val
XM_006715411.1:c.25415C>T	XP_006715474.1:p.Ala8472Val
XM_006715412.1:c.25451C>T	XP_006715475.1:p.Ala8484Val
XM_006715413.1:c.25397C>T	XP_006715476.1:p.Ala8466Val
XM_006715414.1:c.25394C>T	XP_006715477.1:p.Ala8465Val
XM_006715415.1:c.25397C>T	XP_006715478.1:p.Ala8466Val
XM_006715416.1:c.25382C>T	XP_006715479.1:p.Ala8461Val
XM_006715417.1:c.25325C>T	XP_006715480.1:p.Ala8442Val
XM_006715420.1:c.25313C>T	XP_006715483.1:p.Ala8438Val
XM_006715421.1:c.25310C>T	XP_006715484.1:p.Ala8437Val
XM_006715422.1:c.25307C>T	XP_006715485.1:p.Ala8436Val
XM_006715423.1:c.25466C>T	XP_006715486.1:p.Ala8489Val
XM_006715424.1:c.25466C>T	XP_006715487.1:p.Ala8489Val
XM_006715425.1:c.25397C>T	XP_006715488.1:p.Ala8466Val
XM_011535641.1:c.25463C>T	XP_011533943.1:p.Ala8488Val
XM_011535642.1:c.25451C>T	XP_011533944.1:p.Ala8484Val
XM_011535643.1:c.25301C>T	XP_011533945.1:p.Ala8434Val
XM_011535644.1:c.23741C>T	XP_011533946.1:p.Ala7914Val
XM_011535645.1:c.23234C>T	XP_011533947.1:p.Ala7745Val
XM_011535647.1:c.18701C>T	XP_011533949.1:p.Ala6234Val
NM_001347701.1:c.1967C>T	NP_001334630.1:p.Ala656Val
NM_001347702.1:c.1895C>T	NP_001334631.1:p.Ala632Val
XM_006715408.2:c.25454C>T	XP_006715471.1:p.Ala8485Val
XM_006715410.2:c.25466C>T	XP_006715473.1:p.Ala8489Val
XM_006715412.2:c.25451C>T	XP_006715475.1:p.Ala8484Val
XM_006715413.2:c.25397C>T	XP_006715476.1:p.Ala8466Val
XM_006715415.2:c.25397C>T	XP_006715478.1:p.Ala8466Val
XM_006715416.2:c.25382C>T	XP_006715479.1:p.Ala8461Val
XM_006715417.2:c.25325C>T	XP_006715480.1:p.Ala8442Val
XM_006715420.2:c.25313C>T	XP_006715483.1:p.Ala8438Val
XM_006715421.2:c.25310C>T	XP_006715484.1:p.Ala8437Val
XM_006715423.2:c.25466C>T	XP_006715486.1:p.Ala8489Val
XM_006715424.2:c.25466C>T	XP_006715487.1:p.Ala8489Val
XM_006715425.2:c.25397C>T	XP_006715488.1:p.Ala8466Val
XM_011535641.2:c.25463C>T	XP_011533943.1:p.Ala8488Val
XM_011535642.2:c.25451C>T	XP_011533944.1:p.Ala8484Val
XM_011535645.2:c.23234C>T	XP_011533947.1:p.Ala7745Val
XM_017010608.1:c.25466C>T	XP_016866097.1:p.Ala8489Val
XM_017010609.1:c.25466C>T	XP_016866098.1:p.Ala8489Val
XM_017010610.1:c.25445C>T	XP_016866099.1:p.Ala8482Val
XM_017010611.2:c.25439C>T	XP_016866100.1:p.Ala8480Val
XM_017010612.1:c.25388C>T	XP_016866101.1:p.Ala8463Val
XM_017010613.1:c.25394C>T	XP_016866102.1:p.Ala8465Val
XM_017010614.1:c.25310C>T	XP_016866103.1:p.Ala8437Val
XM_017010615.1:c.25241C>T	XP_016866104.1:p.Ala8414Val
XM_017010616.1:c.25397C>T	XP_016866105.1:p.Ala8466Val
XM_017010617.1:c.25394C>T	XP_016866106.1:p.Ala8465Val
XM_017010618.1:c.25382C>T	XP_016866107.1:p.Ala8461Val
XM_017010619.1:c.23741C>T	XP_016866108.1:p.Ala7914Val
NM_182961.4:c.25361C>T MANE Select	NP_892006.3:p.Ala8454Val
NM_001347701.2:c.1967C>T	NP_001334630.1:p.Ala656Val
NM_001347702.2:c.1895C>T MANE Plus Clinical	NP_001334631.1:p.Ala632Val
NM_033071.5:c.25217C>T	NP_149062.2:p.Ala8406Val