Canonical Allele Identifier: CA452969961

Gene: SYNE1

Linked Data

• COSMIC: COSM301400 ; COSM301401
• MyVariant Identifiers: chr6:g.152461265G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140130G>A , CM000668.2:g.152140130G>A	GRCh38
NC_000006.11:g.152461265G>A , CM000668.1:g.152461265G>A	GRCh37
NC_000006.10:g.152502958G>A	NCBI36
NG_012855.1:g.502270C>T
NG_012855.2:g.502270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1812C>T MANE Plus Clinical	ENSP00000346701.4:p.Ala604=
ENST00000367255.10:c.25278C>T MANE Select	ENSP00000356224.5:p.Ala8426=
ENST00000423061.6:c.25134C>T	ENSP00000396024.1:p.Ala8378=
ENST00000672154.1:c.680C>T
ENST00000672169.1:c.1013C>T
ENST00000673173.1:c.922C>T
ENST00000673451.1:c.1050C>T	ENSP00000500189.1:p.Ala350=
ENST00000341594.9:c.24063C>T	ENSP00000341887.6:p.Ala8021=
ENST00000347037.9:n.2026C>T
ENST00000354674.4:c.1812C>T	ENSP00000346701.4:p.Ala604=
ENST00000367251.7:c.4113C>T	ENSP00000356220.3:p.Ala1371=
ENST00000367255.9:c.25278C>T	ENSP00000356224.5:p.Ala8426=
ENST00000367256.9:n.8970C>T
ENST00000367257.8:c.3216C>T	ENSP00000356226.4:p.Ala1072=
ENST00000409694.6:n.8862C>T
ENST00000423061.5:c.25134C>T	ENSP00000396024.1:p.Ala8378=
ENST00000460912.6:n.1892C>T
ENST00000478916.5:n.4300C>T
ENST00000536990.5:n.2115C>T
ENST00000539504.5:c.1743C>T	ENSP00000441052.1:p.Ala581=
NM_033071.3:c.25134C>T	NP_149062.1:p.Ala8378=
NM_182961.3:c.25278C>T	NP_892006.3:p.Ala8426=
XM_006715407.1:c.25383C>T	XP_006715470.1:p.Ala8461=
XM_006715408.1:c.25371C>T	XP_006715471.1:p.Ala8457=
XM_006715409.1:c.25362C>T	XP_006715472.1:p.Ala8454=
XM_006715410.1:c.25383C>T	XP_006715473.1:p.Ala8461=
XM_006715411.1:c.25332C>T	XP_006715474.1:p.Ala8444=
XM_006715412.1:c.25368C>T	XP_006715475.1:p.Ala8456=
XM_006715413.1:c.25314C>T	XP_006715476.1:p.Ala8438=
XM_006715414.1:c.25311C>T	XP_006715477.1:p.Ala8437=
XM_006715415.1:c.25314C>T	XP_006715478.1:p.Ala8438=
XM_006715416.1:c.25299C>T	XP_006715479.1:p.Ala8433=
XM_006715417.1:c.25242C>T	XP_006715480.1:p.Ala8414=
XM_006715420.1:c.25230C>T	XP_006715483.1:p.Ala8410=
XM_006715421.1:c.25227C>T	XP_006715484.1:p.Ala8409=
XM_006715422.1:c.25224C>T	XP_006715485.1:p.Ala8408=
XM_006715423.1:c.25383C>T	XP_006715486.1:p.Ala8461=
XM_006715424.1:c.25383C>T	XP_006715487.1:p.Ala8461=
XM_006715425.1:c.25314C>T	XP_006715488.1:p.Ala8438=
XM_011535641.1:c.25380C>T	XP_011533943.1:p.Ala8460=
XM_011535642.1:c.25368C>T	XP_011533944.1:p.Ala8456=
XM_011535643.1:c.25218C>T	XP_011533945.1:p.Ala8406=
XM_011535644.1:c.23658C>T	XP_011533946.1:p.Ala7886=
XM_011535645.1:c.23151C>T	XP_011533947.1:p.Ala7717=
XM_011535647.1:c.18618C>T	XP_011533949.1:p.Ala6206=
NM_001347701.1:c.1884C>T	NP_001334630.1:p.Ala628=
NM_001347702.1:c.1812C>T	NP_001334631.1:p.Ala604=
XM_006715408.2:c.25371C>T	XP_006715471.1:p.Ala8457=
XM_006715410.2:c.25383C>T	XP_006715473.1:p.Ala8461=
XM_006715412.2:c.25368C>T	XP_006715475.1:p.Ala8456=
XM_006715413.2:c.25314C>T	XP_006715476.1:p.Ala8438=
XM_006715415.2:c.25314C>T	XP_006715478.1:p.Ala8438=
XM_006715416.2:c.25299C>T	XP_006715479.1:p.Ala8433=
XM_006715417.2:c.25242C>T	XP_006715480.1:p.Ala8414=
XM_006715420.2:c.25230C>T	XP_006715483.1:p.Ala8410=
XM_006715421.2:c.25227C>T	XP_006715484.1:p.Ala8409=
XM_006715423.2:c.25383C>T	XP_006715486.1:p.Ala8461=
XM_006715424.2:c.25383C>T	XP_006715487.1:p.Ala8461=
XM_006715425.2:c.25314C>T	XP_006715488.1:p.Ala8438=
XM_011535641.2:c.25380C>T	XP_011533943.1:p.Ala8460=
XM_011535642.2:c.25368C>T	XP_011533944.1:p.Ala8456=
XM_011535645.2:c.23151C>T	XP_011533947.1:p.Ala7717=
XM_017010608.1:c.25383C>T	XP_016866097.1:p.Ala8461=
XM_017010609.1:c.25383C>T	XP_016866098.1:p.Ala8461=
XM_017010610.1:c.25362C>T	XP_016866099.1:p.Ala8454=
XM_017010611.2:c.25356C>T	XP_016866100.1:p.Ala8452=
XM_017010612.1:c.25305C>T	XP_016866101.1:p.Ala8435=
XM_017010613.1:c.25311C>T	XP_016866102.1:p.Ala8437=
XM_017010614.1:c.25227C>T	XP_016866103.1:p.Ala8409=
XM_017010615.1:c.25158C>T	XP_016866104.1:p.Ala8386=
XM_017010616.1:c.25314C>T	XP_016866105.1:p.Ala8438=
XM_017010617.1:c.25311C>T	XP_016866106.1:p.Ala8437=
XM_017010618.1:c.25299C>T	XP_016866107.1:p.Ala8433=
XM_017010619.1:c.23658C>T	XP_016866108.1:p.Ala7886=
NM_182961.4:c.25278C>T MANE Select	NP_892006.3:p.Ala8426=
NM_001347701.2:c.1884C>T	NP_001334630.1:p.Ala628=
NM_001347702.2:c.1812C>T MANE Plus Clinical	NP_001334631.1:p.Ala604=
NM_033071.5:c.25134C>T	NP_149062.2:p.Ala8378=