Canonical Allele Identifier: CA366082340

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152462445C>G (hg19) ; chr6:g.152141310C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141310C>G , CM000668.2:g.152141310C>G	GRCh38
NC_000006.11:g.152462445C>G , CM000668.1:g.152462445C>G	GRCh37
NC_000006.10:g.152504138C>G	NCBI36
NG_012855.1:g.501090G>C
NG_012855.2:g.501090G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1673G>C MANE Plus Clinical	ENSP00000346701.4:p.Cys558Ser
ENST00000367255.10:c.25139G>C MANE Select	ENSP00000356224.5:p.Cys8380Ser
ENST00000423061.6:c.24995G>C	ENSP00000396024.1:p.Cys8332Ser
ENST00000672154.1:c.541G>C
ENST00000672169.1:c.874G>C
ENST00000673173.1:c.891-1149G>C
ENST00000673451.1:c.911G>C	ENSP00000500189.1:p.Cys304Ser
ENST00000341594.9:c.23924G>C	ENSP00000341887.6:p.Cys7975Ser
ENST00000347037.9:n.1887G>C
ENST00000354674.4:c.1673G>C	ENSP00000346701.4:p.Cys558Ser
ENST00000367251.7:c.3974G>C	ENSP00000356220.3:p.Cys1325Ser
ENST00000367255.9:c.25139G>C	ENSP00000356224.5:p.Cys8380Ser
ENST00000367256.9:n.8831G>C
ENST00000367257.8:c.3077G>C	ENSP00000356226.4:p.Cys1026Ser
ENST00000409694.6:n.8723G>C
ENST00000423061.5:c.24995G>C	ENSP00000396024.1:p.Cys8332Ser
ENST00000460912.6:n.1753G>C
ENST00000478916.5:n.4161G>C
ENST00000536990.5:n.1976G>C
ENST00000539504.5:c.1604G>C	ENSP00000441052.1:p.Cys535Ser
NM_033071.3:c.24995G>C	NP_149062.1:p.Cys8332Ser
NM_182961.3:c.25139G>C	NP_892006.3:p.Cys8380Ser
XM_006715407.1:c.25244G>C	XP_006715470.1:p.Cys8415Ser
XM_006715408.1:c.25232G>C	XP_006715471.1:p.Cys8411Ser
XM_006715409.1:c.25223G>C	XP_006715472.1:p.Cys8408Ser
XM_006715410.1:c.25244G>C	XP_006715473.1:p.Cys8415Ser
XM_006715411.1:c.25193G>C	XP_006715474.1:p.Cys8398Ser
XM_006715412.1:c.25229G>C	XP_006715475.1:p.Cys8410Ser
XM_006715413.1:c.25175G>C	XP_006715476.1:p.Cys8392Ser
XM_006715414.1:c.25172G>C	XP_006715477.1:p.Cys8391Ser
XM_006715415.1:c.25175G>C	XP_006715478.1:p.Cys8392Ser
XM_006715416.1:c.25160G>C	XP_006715479.1:p.Cys8387Ser
XM_006715417.1:c.25103G>C	XP_006715480.1:p.Cys8368Ser
XM_006715420.1:c.25091G>C	XP_006715483.1:p.Cys8364Ser
XM_006715421.1:c.25088G>C	XP_006715484.1:p.Cys8363Ser
XM_006715422.1:c.25085G>C	XP_006715485.1:p.Cys8362Ser
XM_006715423.1:c.25244G>C	XP_006715486.1:p.Cys8415Ser
XM_006715424.1:c.25244G>C	XP_006715487.1:p.Cys8415Ser
XM_006715425.1:c.25175G>C	XP_006715488.1:p.Cys8392Ser
XM_011535641.1:c.25241G>C	XP_011533943.1:p.Cys8414Ser
XM_011535642.1:c.25229G>C	XP_011533944.1:p.Cys8410Ser
XM_011535643.1:c.25079G>C	XP_011533945.1:p.Cys8360Ser
XM_011535644.1:c.23519G>C	XP_011533946.1:p.Cys7840Ser
XM_011535645.1:c.23012G>C	XP_011533947.1:p.Cys7671Ser
XM_011535647.1:c.18479G>C	XP_011533949.1:p.Cys6160Ser
NM_001347701.1:c.1745G>C	NP_001334630.1:p.Cys582Ser
NM_001347702.1:c.1673G>C	NP_001334631.1:p.Cys558Ser
XM_006715408.2:c.25232G>C	XP_006715471.1:p.Cys8411Ser
XM_006715410.2:c.25244G>C	XP_006715473.1:p.Cys8415Ser
XM_006715412.2:c.25229G>C	XP_006715475.1:p.Cys8410Ser
XM_006715413.2:c.25175G>C	XP_006715476.1:p.Cys8392Ser
XM_006715415.2:c.25175G>C	XP_006715478.1:p.Cys8392Ser
XM_006715416.2:c.25160G>C	XP_006715479.1:p.Cys8387Ser
XM_006715417.2:c.25103G>C	XP_006715480.1:p.Cys8368Ser
XM_006715420.2:c.25091G>C	XP_006715483.1:p.Cys8364Ser
XM_006715421.2:c.25088G>C	XP_006715484.1:p.Cys8363Ser
XM_006715423.2:c.25244G>C	XP_006715486.1:p.Cys8415Ser
XM_006715424.2:c.25244G>C	XP_006715487.1:p.Cys8415Ser
XM_006715425.2:c.25175G>C	XP_006715488.1:p.Cys8392Ser
XM_011535641.2:c.25241G>C	XP_011533943.1:p.Cys8414Ser
XM_011535642.2:c.25229G>C	XP_011533944.1:p.Cys8410Ser
XM_011535645.2:c.23012G>C	XP_011533947.1:p.Cys7671Ser
XM_017010608.1:c.25244G>C	XP_016866097.1:p.Cys8415Ser
XM_017010609.1:c.25244G>C	XP_016866098.1:p.Cys8415Ser
XM_017010610.1:c.25223G>C	XP_016866099.1:p.Cys8408Ser
XM_017010611.2:c.25217G>C	XP_016866100.1:p.Cys8406Ser
XM_017010612.1:c.25166G>C	XP_016866101.1:p.Cys8389Ser
XM_017010613.1:c.25172G>C	XP_016866102.1:p.Cys8391Ser
XM_017010614.1:c.25088G>C	XP_016866103.1:p.Cys8363Ser
XM_017010615.1:c.25019G>C	XP_016866104.1:p.Cys8340Ser
XM_017010616.1:c.25175G>C	XP_016866105.1:p.Cys8392Ser
XM_017010617.1:c.25172G>C	XP_016866106.1:p.Cys8391Ser
XM_017010618.1:c.25160G>C	XP_016866107.1:p.Cys8387Ser
XM_017010619.1:c.23519G>C	XP_016866108.1:p.Cys7840Ser
NM_182961.4:c.25139G>C MANE Select	NP_892006.3:p.Cys8380Ser
NM_001347701.2:c.1745G>C	NP_001334630.1:p.Cys582Ser
NM_001347702.2:c.1673G>C MANE Plus Clinical	NP_001334631.1:p.Cys558Ser
NM_033071.5:c.24995G>C	NP_149062.2:p.Cys8332Ser