Canonical Allele Identifier: CA366080770

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461245A>T (hg19) ; chr6:g.152140110A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140110A>T , CM000668.2:g.152140110A>T	GRCh38
NC_000006.11:g.152461245A>T , CM000668.1:g.152461245A>T	GRCh37
NC_000006.10:g.152502938A>T	NCBI36
NG_012855.1:g.502290T>A
NG_012855.2:g.502290T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1832T>A MANE Plus Clinical	ENSP00000346701.4:p.Leu611Ter
ENST00000367255.10:c.25298T>A MANE Select	ENSP00000356224.5:p.Leu8433Ter
ENST00000423061.6:c.25154T>A	ENSP00000396024.1:p.Leu8385Ter
ENST00000672154.1:c.700T>A
ENST00000672169.1:c.1033T>A
ENST00000673173.1:c.942T>A
ENST00000673451.1:c.1070T>A	ENSP00000500189.1:p.Leu357Ter
ENST00000341594.9:c.24083T>A	ENSP00000341887.6:p.Leu8028Ter
ENST00000347037.9:n.2046T>A
ENST00000354674.4:c.1832T>A	ENSP00000346701.4:p.Leu611Ter
ENST00000367251.7:c.4133T>A	ENSP00000356220.3:p.Leu1378Ter
ENST00000367255.9:c.25298T>A	ENSP00000356224.5:p.Leu8433Ter
ENST00000367256.9:n.8990T>A
ENST00000367257.8:c.3236T>A	ENSP00000356226.4:p.Leu1079Ter
ENST00000409694.6:n.8882T>A
ENST00000423061.5:c.25154T>A	ENSP00000396024.1:p.Leu8385Ter
ENST00000460912.6:n.1912T>A
ENST00000478916.5:n.4320T>A
ENST00000536990.5:n.2135T>A
ENST00000539504.5:c.1763T>A	ENSP00000441052.1:p.Leu588Ter
NM_033071.3:c.25154T>A	NP_149062.1:p.Leu8385Ter
NM_182961.3:c.25298T>A	NP_892006.3:p.Leu8433Ter
XM_006715407.1:c.25403T>A	XP_006715470.1:p.Leu8468Ter
XM_006715408.1:c.25391T>A	XP_006715471.1:p.Leu8464Ter
XM_006715409.1:c.25382T>A	XP_006715472.1:p.Leu8461Ter
XM_006715410.1:c.25403T>A	XP_006715473.1:p.Leu8468Ter
XM_006715411.1:c.25352T>A	XP_006715474.1:p.Leu8451Ter
XM_006715412.1:c.25388T>A	XP_006715475.1:p.Leu8463Ter
XM_006715413.1:c.25334T>A	XP_006715476.1:p.Leu8445Ter
XM_006715414.1:c.25331T>A	XP_006715477.1:p.Leu8444Ter
XM_006715415.1:c.25334T>A	XP_006715478.1:p.Leu8445Ter
XM_006715416.1:c.25319T>A	XP_006715479.1:p.Leu8440Ter
XM_006715417.1:c.25262T>A	XP_006715480.1:p.Leu8421Ter
XM_006715420.1:c.25250T>A	XP_006715483.1:p.Leu8417Ter
XM_006715421.1:c.25247T>A	XP_006715484.1:p.Leu8416Ter
XM_006715422.1:c.25244T>A	XP_006715485.1:p.Leu8415Ter
XM_006715423.1:c.25403T>A	XP_006715486.1:p.Leu8468Ter
XM_006715424.1:c.25403T>A	XP_006715487.1:p.Leu8468Ter
XM_006715425.1:c.25334T>A	XP_006715488.1:p.Leu8445Ter
XM_011535641.1:c.25400T>A	XP_011533943.1:p.Leu8467Ter
XM_011535642.1:c.25388T>A	XP_011533944.1:p.Leu8463Ter
XM_011535643.1:c.25238T>A	XP_011533945.1:p.Leu8413Ter
XM_011535644.1:c.23678T>A	XP_011533946.1:p.Leu7893Ter
XM_011535645.1:c.23171T>A	XP_011533947.1:p.Leu7724Ter
XM_011535647.1:c.18638T>A	XP_011533949.1:p.Leu6213Ter
NM_001347701.1:c.1904T>A	NP_001334630.1:p.Leu635Ter
NM_001347702.1:c.1832T>A	NP_001334631.1:p.Leu611Ter
XM_006715408.2:c.25391T>A	XP_006715471.1:p.Leu8464Ter
XM_006715410.2:c.25403T>A	XP_006715473.1:p.Leu8468Ter
XM_006715412.2:c.25388T>A	XP_006715475.1:p.Leu8463Ter
XM_006715413.2:c.25334T>A	XP_006715476.1:p.Leu8445Ter
XM_006715415.2:c.25334T>A	XP_006715478.1:p.Leu8445Ter
XM_006715416.2:c.25319T>A	XP_006715479.1:p.Leu8440Ter
XM_006715417.2:c.25262T>A	XP_006715480.1:p.Leu8421Ter
XM_006715420.2:c.25250T>A	XP_006715483.1:p.Leu8417Ter
XM_006715421.2:c.25247T>A	XP_006715484.1:p.Leu8416Ter
XM_006715423.2:c.25403T>A	XP_006715486.1:p.Leu8468Ter
XM_006715424.2:c.25403T>A	XP_006715487.1:p.Leu8468Ter
XM_006715425.2:c.25334T>A	XP_006715488.1:p.Leu8445Ter
XM_011535641.2:c.25400T>A	XP_011533943.1:p.Leu8467Ter
XM_011535642.2:c.25388T>A	XP_011533944.1:p.Leu8463Ter
XM_011535645.2:c.23171T>A	XP_011533947.1:p.Leu7724Ter
XM_017010608.1:c.25403T>A	XP_016866097.1:p.Leu8468Ter
XM_017010609.1:c.25403T>A	XP_016866098.1:p.Leu8468Ter
XM_017010610.1:c.25382T>A	XP_016866099.1:p.Leu8461Ter
XM_017010611.2:c.25376T>A	XP_016866100.1:p.Leu8459Ter
XM_017010612.1:c.25325T>A	XP_016866101.1:p.Leu8442Ter
XM_017010613.1:c.25331T>A	XP_016866102.1:p.Leu8444Ter
XM_017010614.1:c.25247T>A	XP_016866103.1:p.Leu8416Ter
XM_017010615.1:c.25178T>A	XP_016866104.1:p.Leu8393Ter
XM_017010616.1:c.25334T>A	XP_016866105.1:p.Leu8445Ter
XM_017010617.1:c.25331T>A	XP_016866106.1:p.Leu8444Ter
XM_017010618.1:c.25319T>A	XP_016866107.1:p.Leu8440Ter
XM_017010619.1:c.23678T>A	XP_016866108.1:p.Leu7893Ter
NM_182961.4:c.25298T>A MANE Select	NP_892006.3:p.Leu8433Ter
NM_001347701.2:c.1904T>A	NP_001334630.1:p.Leu635Ter
NM_001347702.2:c.1832T>A MANE Plus Clinical	NP_001334631.1:p.Leu611Ter
NM_033071.5:c.25154T>A	NP_149062.2:p.Leu8385Ter