Canonical Allele Identifier: CA366083292

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464876T>G (hg19) ; chr6:g.152143741T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143741T>G , CM000668.2:g.152143741T>G	GRCh38
NC_000006.11:g.152464876T>G , CM000668.1:g.152464876T>G	GRCh37
NC_000006.10:g.152506569T>G	NCBI36
NG_012855.1:g.498659A>C
NG_012855.2:g.498659A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1535A>C MANE Plus Clinical	ENSP00000346701.4:p.Gln512Pro
ENST00000367255.10:c.25001A>C MANE Select	ENSP00000356224.5:p.Gln8334Pro
ENST00000423061.6:c.24857A>C	ENSP00000396024.1:p.Gln8286Pro
ENST00000672154.1:c.403A>C
ENST00000672169.1:c.736A>C
ENST00000673173.1:c.891-3580A>C
ENST00000673451.1:c.773A>C	ENSP00000500189.1:p.Gln258Pro
ENST00000341594.9:c.23786A>C	ENSP00000341887.6:p.Gln7929Pro
ENST00000347037.9:n.1749A>C
ENST00000354674.4:c.1535A>C	ENSP00000346701.4:p.Gln512Pro
ENST00000367251.7:c.3836A>C	ENSP00000356220.3:p.Gln1279Pro
ENST00000367255.9:c.25001A>C	ENSP00000356224.5:p.Gln8334Pro
ENST00000367256.9:n.8693A>C
ENST00000367257.8:c.2939A>C	ENSP00000356226.4:p.Gln980Pro
ENST00000409694.6:n.8585A>C
ENST00000423061.5:c.24857A>C	ENSP00000396024.1:p.Gln8286Pro
ENST00000460912.6:n.1615A>C
ENST00000478916.5:n.4023A>C
ENST00000536990.5:n.1838A>C
ENST00000539504.5:c.1466A>C	ENSP00000441052.1:p.Gln489Pro
NM_033071.3:c.24857A>C	NP_149062.1:p.Gln8286Pro
NM_182961.3:c.25001A>C	NP_892006.3:p.Gln8334Pro
XM_006715407.1:c.25106A>C	XP_006715470.1:p.Gln8369Pro
XM_006715408.1:c.25094A>C	XP_006715471.1:p.Gln8365Pro
XM_006715409.1:c.25085A>C	XP_006715472.1:p.Gln8362Pro
XM_006715410.1:c.25106A>C	XP_006715473.1:p.Gln8369Pro
XM_006715411.1:c.25055A>C	XP_006715474.1:p.Gln8352Pro
XM_006715412.1:c.25091A>C	XP_006715475.1:p.Gln8364Pro
XM_006715413.1:c.25037A>C	XP_006715476.1:p.Gln8346Pro
XM_006715414.1:c.25034A>C	XP_006715477.1:p.Gln8345Pro
XM_006715415.1:c.25037A>C	XP_006715478.1:p.Gln8346Pro
XM_006715416.1:c.25022A>C	XP_006715479.1:p.Gln8341Pro
XM_006715417.1:c.24965A>C	XP_006715480.1:p.Gln8322Pro
XM_006715420.1:c.24953A>C	XP_006715483.1:p.Gln8318Pro
XM_006715421.1:c.24950A>C	XP_006715484.1:p.Gln8317Pro
XM_006715422.1:c.24947A>C	XP_006715485.1:p.Gln8316Pro
XM_006715423.1:c.25106A>C	XP_006715486.1:p.Gln8369Pro
XM_006715424.1:c.25106A>C	XP_006715487.1:p.Gln8369Pro
XM_006715425.1:c.25037A>C	XP_006715488.1:p.Gln8346Pro
XM_011535641.1:c.25103A>C	XP_011533943.1:p.Gln8368Pro
XM_011535642.1:c.25091A>C	XP_011533944.1:p.Gln8364Pro
XM_011535643.1:c.24941A>C	XP_011533945.1:p.Gln8314Pro
XM_011535644.1:c.23381A>C	XP_011533946.1:p.Gln7794Pro
XM_011535645.1:c.22874A>C	XP_011533947.1:p.Gln7625Pro
XM_011535647.1:c.18341A>C	XP_011533949.1:p.Gln6114Pro
NM_001347701.1:c.1607A>C	NP_001334630.1:p.Gln536Pro
NM_001347702.1:c.1535A>C	NP_001334631.1:p.Gln512Pro
XM_006715408.2:c.25094A>C	XP_006715471.1:p.Gln8365Pro
XM_006715410.2:c.25106A>C	XP_006715473.1:p.Gln8369Pro
XM_006715412.2:c.25091A>C	XP_006715475.1:p.Gln8364Pro
XM_006715413.2:c.25037A>C	XP_006715476.1:p.Gln8346Pro
XM_006715415.2:c.25037A>C	XP_006715478.1:p.Gln8346Pro
XM_006715416.2:c.25022A>C	XP_006715479.1:p.Gln8341Pro
XM_006715417.2:c.24965A>C	XP_006715480.1:p.Gln8322Pro
XM_006715420.2:c.24953A>C	XP_006715483.1:p.Gln8318Pro
XM_006715421.2:c.24950A>C	XP_006715484.1:p.Gln8317Pro
XM_006715423.2:c.25106A>C	XP_006715486.1:p.Gln8369Pro
XM_006715424.2:c.25106A>C	XP_006715487.1:p.Gln8369Pro
XM_006715425.2:c.25037A>C	XP_006715488.1:p.Gln8346Pro
XM_011535641.2:c.25103A>C	XP_011533943.1:p.Gln8368Pro
XM_011535642.2:c.25091A>C	XP_011533944.1:p.Gln8364Pro
XM_011535645.2:c.22874A>C	XP_011533947.1:p.Gln7625Pro
XM_017010608.1:c.25106A>C	XP_016866097.1:p.Gln8369Pro
XM_017010609.1:c.25106A>C	XP_016866098.1:p.Gln8369Pro
XM_017010610.1:c.25085A>C	XP_016866099.1:p.Gln8362Pro
XM_017010611.2:c.25079A>C	XP_016866100.1:p.Gln8360Pro
XM_017010612.1:c.25028A>C	XP_016866101.1:p.Gln8343Pro
XM_017010613.1:c.25034A>C	XP_016866102.1:p.Gln8345Pro
XM_017010614.1:c.24950A>C	XP_016866103.1:p.Gln8317Pro
XM_017010615.1:c.24881A>C	XP_016866104.1:p.Gln8294Pro
XM_017010616.1:c.25037A>C	XP_016866105.1:p.Gln8346Pro
XM_017010617.1:c.25034A>C	XP_016866106.1:p.Gln8345Pro
XM_017010618.1:c.25022A>C	XP_016866107.1:p.Gln8341Pro
XM_017010619.1:c.23381A>C	XP_016866108.1:p.Gln7794Pro
NM_182961.4:c.25001A>C MANE Select	NP_892006.3:p.Gln8334Pro
NM_001347701.2:c.1607A>C	NP_001334630.1:p.Gln536Pro
NM_001347702.2:c.1535A>C MANE Plus Clinical	NP_001334631.1:p.Gln512Pro
NM_033071.5:c.24857A>C	NP_149062.2:p.Gln8286Pro