Canonical Allele Identifier: CA366080829

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461255T>G (hg19) ; chr6:g.152140120T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140120T>G , CM000668.2:g.152140120T>G	GRCh38
NC_000006.11:g.152461255T>G , CM000668.1:g.152461255T>G	GRCh37
NC_000006.10:g.152502948T>G	NCBI36
NG_012855.1:g.502280A>C
NG_012855.2:g.502280A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1822A>C MANE Plus Clinical	ENSP00000346701.4:p.Ser608Arg
ENST00000367255.10:c.25288A>C MANE Select	ENSP00000356224.5:p.Ser8430Arg
ENST00000423061.6:c.25144A>C	ENSP00000396024.1:p.Ser8382Arg
ENST00000672154.1:c.690A>C
ENST00000672169.1:c.1023A>C
ENST00000673173.1:c.932A>C
ENST00000673451.1:c.1060A>C	ENSP00000500189.1:p.Ser354Arg
ENST00000341594.9:c.24073A>C	ENSP00000341887.6:p.Ser8025Arg
ENST00000347037.9:n.2036A>C
ENST00000354674.4:c.1822A>C	ENSP00000346701.4:p.Ser608Arg
ENST00000367251.7:c.4123A>C	ENSP00000356220.3:p.Ser1375Arg
ENST00000367255.9:c.25288A>C	ENSP00000356224.5:p.Ser8430Arg
ENST00000367256.9:n.8980A>C
ENST00000367257.8:c.3226A>C	ENSP00000356226.4:p.Ser1076Arg
ENST00000409694.6:n.8872A>C
ENST00000423061.5:c.25144A>C	ENSP00000396024.1:p.Ser8382Arg
ENST00000460912.6:n.1902A>C
ENST00000478916.5:n.4310A>C
ENST00000536990.5:n.2125A>C
ENST00000539504.5:c.1753A>C	ENSP00000441052.1:p.Ser585Arg
NM_033071.3:c.25144A>C	NP_149062.1:p.Ser8382Arg
NM_182961.3:c.25288A>C	NP_892006.3:p.Ser8430Arg
XM_006715407.1:c.25393A>C	XP_006715470.1:p.Ser8465Arg
XM_006715408.1:c.25381A>C	XP_006715471.1:p.Ser8461Arg
XM_006715409.1:c.25372A>C	XP_006715472.1:p.Ser8458Arg
XM_006715410.1:c.25393A>C	XP_006715473.1:p.Ser8465Arg
XM_006715411.1:c.25342A>C	XP_006715474.1:p.Ser8448Arg
XM_006715412.1:c.25378A>C	XP_006715475.1:p.Ser8460Arg
XM_006715413.1:c.25324A>C	XP_006715476.1:p.Ser8442Arg
XM_006715414.1:c.25321A>C	XP_006715477.1:p.Ser8441Arg
XM_006715415.1:c.25324A>C	XP_006715478.1:p.Ser8442Arg
XM_006715416.1:c.25309A>C	XP_006715479.1:p.Ser8437Arg
XM_006715417.1:c.25252A>C	XP_006715480.1:p.Ser8418Arg
XM_006715420.1:c.25240A>C	XP_006715483.1:p.Ser8414Arg
XM_006715421.1:c.25237A>C	XP_006715484.1:p.Ser8413Arg
XM_006715422.1:c.25234A>C	XP_006715485.1:p.Ser8412Arg
XM_006715423.1:c.25393A>C	XP_006715486.1:p.Ser8465Arg
XM_006715424.1:c.25393A>C	XP_006715487.1:p.Ser8465Arg
XM_006715425.1:c.25324A>C	XP_006715488.1:p.Ser8442Arg
XM_011535641.1:c.25390A>C	XP_011533943.1:p.Ser8464Arg
XM_011535642.1:c.25378A>C	XP_011533944.1:p.Ser8460Arg
XM_011535643.1:c.25228A>C	XP_011533945.1:p.Ser8410Arg
XM_011535644.1:c.23668A>C	XP_011533946.1:p.Ser7890Arg
XM_011535645.1:c.23161A>C	XP_011533947.1:p.Ser7721Arg
XM_011535647.1:c.18628A>C	XP_011533949.1:p.Ser6210Arg
NM_001347701.1:c.1894A>C	NP_001334630.1:p.Ser632Arg
NM_001347702.1:c.1822A>C	NP_001334631.1:p.Ser608Arg
XM_006715408.2:c.25381A>C	XP_006715471.1:p.Ser8461Arg
XM_006715410.2:c.25393A>C	XP_006715473.1:p.Ser8465Arg
XM_006715412.2:c.25378A>C	XP_006715475.1:p.Ser8460Arg
XM_006715413.2:c.25324A>C	XP_006715476.1:p.Ser8442Arg
XM_006715415.2:c.25324A>C	XP_006715478.1:p.Ser8442Arg
XM_006715416.2:c.25309A>C	XP_006715479.1:p.Ser8437Arg
XM_006715417.2:c.25252A>C	XP_006715480.1:p.Ser8418Arg
XM_006715420.2:c.25240A>C	XP_006715483.1:p.Ser8414Arg
XM_006715421.2:c.25237A>C	XP_006715484.1:p.Ser8413Arg
XM_006715423.2:c.25393A>C	XP_006715486.1:p.Ser8465Arg
XM_006715424.2:c.25393A>C	XP_006715487.1:p.Ser8465Arg
XM_006715425.2:c.25324A>C	XP_006715488.1:p.Ser8442Arg
XM_011535641.2:c.25390A>C	XP_011533943.1:p.Ser8464Arg
XM_011535642.2:c.25378A>C	XP_011533944.1:p.Ser8460Arg
XM_011535645.2:c.23161A>C	XP_011533947.1:p.Ser7721Arg
XM_017010608.1:c.25393A>C	XP_016866097.1:p.Ser8465Arg
XM_017010609.1:c.25393A>C	XP_016866098.1:p.Ser8465Arg
XM_017010610.1:c.25372A>C	XP_016866099.1:p.Ser8458Arg
XM_017010611.2:c.25366A>C	XP_016866100.1:p.Ser8456Arg
XM_017010612.1:c.25315A>C	XP_016866101.1:p.Ser8439Arg
XM_017010613.1:c.25321A>C	XP_016866102.1:p.Ser8441Arg
XM_017010614.1:c.25237A>C	XP_016866103.1:p.Ser8413Arg
XM_017010615.1:c.25168A>C	XP_016866104.1:p.Ser8390Arg
XM_017010616.1:c.25324A>C	XP_016866105.1:p.Ser8442Arg
XM_017010617.1:c.25321A>C	XP_016866106.1:p.Ser8441Arg
XM_017010618.1:c.25309A>C	XP_016866107.1:p.Ser8437Arg
XM_017010619.1:c.23668A>C	XP_016866108.1:p.Ser7890Arg
NM_182961.4:c.25288A>C MANE Select	NP_892006.3:p.Ser8430Arg
NM_001347701.2:c.1894A>C	NP_001334630.1:p.Ser632Arg
NM_001347702.2:c.1822A>C MANE Plus Clinical	NP_001334631.1:p.Ser608Arg
NM_033071.5:c.25144A>C	NP_149062.2:p.Ser8382Arg