Canonical Allele Identifier: CA366080784

Gene: SYNE1

Linked Data

• dbSNP Id: rs1208271118
• gnomAD v2: 6-152461249-C-A
• gnomAD v3: 6-152140114-C-A
• gnomAD v4: 6-152140114-C-A
• MyVariant Identifiers: chr6:g.152461249C>A (hg19) ; chr6:g.152140114C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140114C>A , CM000668.2:g.152140114C>A	GRCh38
NC_000006.11:g.152461249C>A , CM000668.1:g.152461249C>A	GRCh37
NC_000006.10:g.152502942C>A	NCBI36
NG_012855.1:g.502286G>T
NG_012855.2:g.502286G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1828G>T MANE Plus Clinical	ENSP00000346701.4:p.Glu610Ter
ENST00000367255.10:c.25294G>T MANE Select	ENSP00000356224.5:p.Glu8432Ter
ENST00000423061.6:c.25150G>T	ENSP00000396024.1:p.Glu8384Ter
ENST00000672154.1:c.696G>T
ENST00000672169.1:c.1029G>T
ENST00000673173.1:c.938G>T
ENST00000673451.1:c.1066G>T	ENSP00000500189.1:p.Glu356Ter
ENST00000341594.9:c.24079G>T	ENSP00000341887.6:p.Glu8027Ter
ENST00000347037.9:n.2042G>T
ENST00000354674.4:c.1828G>T	ENSP00000346701.4:p.Glu610Ter
ENST00000367251.7:c.4129G>T	ENSP00000356220.3:p.Glu1377Ter
ENST00000367255.9:c.25294G>T	ENSP00000356224.5:p.Glu8432Ter
ENST00000367256.9:n.8986G>T
ENST00000367257.8:c.3232G>T	ENSP00000356226.4:p.Glu1078Ter
ENST00000409694.6:n.8878G>T
ENST00000423061.5:c.25150G>T	ENSP00000396024.1:p.Glu8384Ter
ENST00000460912.6:n.1908G>T
ENST00000478916.5:n.4316G>T
ENST00000536990.5:n.2131G>T
ENST00000539504.5:c.1759G>T	ENSP00000441052.1:p.Glu587Ter
NM_033071.3:c.25150G>T	NP_149062.1:p.Glu8384Ter
NM_182961.3:c.25294G>T	NP_892006.3:p.Glu8432Ter
XM_006715407.1:c.25399G>T	XP_006715470.1:p.Glu8467Ter
XM_006715408.1:c.25387G>T	XP_006715471.1:p.Glu8463Ter
XM_006715409.1:c.25378G>T	XP_006715472.1:p.Glu8460Ter
XM_006715410.1:c.25399G>T	XP_006715473.1:p.Glu8467Ter
XM_006715411.1:c.25348G>T	XP_006715474.1:p.Glu8450Ter
XM_006715412.1:c.25384G>T	XP_006715475.1:p.Glu8462Ter
XM_006715413.1:c.25330G>T	XP_006715476.1:p.Glu8444Ter
XM_006715414.1:c.25327G>T	XP_006715477.1:p.Glu8443Ter
XM_006715415.1:c.25330G>T	XP_006715478.1:p.Glu8444Ter
XM_006715416.1:c.25315G>T	XP_006715479.1:p.Glu8439Ter
XM_006715417.1:c.25258G>T	XP_006715480.1:p.Glu8420Ter
XM_006715420.1:c.25246G>T	XP_006715483.1:p.Glu8416Ter
XM_006715421.1:c.25243G>T	XP_006715484.1:p.Glu8415Ter
XM_006715422.1:c.25240G>T	XP_006715485.1:p.Glu8414Ter
XM_006715423.1:c.25399G>T	XP_006715486.1:p.Glu8467Ter
XM_006715424.1:c.25399G>T	XP_006715487.1:p.Glu8467Ter
XM_006715425.1:c.25330G>T	XP_006715488.1:p.Glu8444Ter
XM_011535641.1:c.25396G>T	XP_011533943.1:p.Glu8466Ter
XM_011535642.1:c.25384G>T	XP_011533944.1:p.Glu8462Ter
XM_011535643.1:c.25234G>T	XP_011533945.1:p.Glu8412Ter
XM_011535644.1:c.23674G>T	XP_011533946.1:p.Glu7892Ter
XM_011535645.1:c.23167G>T	XP_011533947.1:p.Glu7723Ter
XM_011535647.1:c.18634G>T	XP_011533949.1:p.Glu6212Ter
NM_001347701.1:c.1900G>T	NP_001334630.1:p.Glu634Ter
NM_001347702.1:c.1828G>T	NP_001334631.1:p.Glu610Ter
XM_006715408.2:c.25387G>T	XP_006715471.1:p.Glu8463Ter
XM_006715410.2:c.25399G>T	XP_006715473.1:p.Glu8467Ter
XM_006715412.2:c.25384G>T	XP_006715475.1:p.Glu8462Ter
XM_006715413.2:c.25330G>T	XP_006715476.1:p.Glu8444Ter
XM_006715415.2:c.25330G>T	XP_006715478.1:p.Glu8444Ter
XM_006715416.2:c.25315G>T	XP_006715479.1:p.Glu8439Ter
XM_006715417.2:c.25258G>T	XP_006715480.1:p.Glu8420Ter
XM_006715420.2:c.25246G>T	XP_006715483.1:p.Glu8416Ter
XM_006715421.2:c.25243G>T	XP_006715484.1:p.Glu8415Ter
XM_006715423.2:c.25399G>T	XP_006715486.1:p.Glu8467Ter
XM_006715424.2:c.25399G>T	XP_006715487.1:p.Glu8467Ter
XM_006715425.2:c.25330G>T	XP_006715488.1:p.Glu8444Ter
XM_011535641.2:c.25396G>T	XP_011533943.1:p.Glu8466Ter
XM_011535642.2:c.25384G>T	XP_011533944.1:p.Glu8462Ter
XM_011535645.2:c.23167G>T	XP_011533947.1:p.Glu7723Ter
XM_017010608.1:c.25399G>T	XP_016866097.1:p.Glu8467Ter
XM_017010609.1:c.25399G>T	XP_016866098.1:p.Glu8467Ter
XM_017010610.1:c.25378G>T	XP_016866099.1:p.Glu8460Ter
XM_017010611.2:c.25372G>T	XP_016866100.1:p.Glu8458Ter
XM_017010612.1:c.25321G>T	XP_016866101.1:p.Glu8441Ter
XM_017010613.1:c.25327G>T	XP_016866102.1:p.Glu8443Ter
XM_017010614.1:c.25243G>T	XP_016866103.1:p.Glu8415Ter
XM_017010615.1:c.25174G>T	XP_016866104.1:p.Glu8392Ter
XM_017010616.1:c.25330G>T	XP_016866105.1:p.Glu8444Ter
XM_017010617.1:c.25327G>T	XP_016866106.1:p.Glu8443Ter
XM_017010618.1:c.25315G>T	XP_016866107.1:p.Glu8439Ter
XM_017010619.1:c.23674G>T	XP_016866108.1:p.Glu7892Ter
NM_182961.4:c.25294G>T MANE Select	NP_892006.3:p.Glu8432Ter
NM_001347701.2:c.1900G>T	NP_001334630.1:p.Glu634Ter
NM_001347702.2:c.1828G>T MANE Plus Clinical	NP_001334631.1:p.Glu610Ter
NM_033071.5:c.25150G>T	NP_149062.2:p.Glu8384Ter