Canonical Allele Identifier: CA366080941

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461276G>C (hg19) ; chr6:g.152140141G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140141G>C , CM000668.2:g.152140141G>C	GRCh38
NC_000006.11:g.152461276G>C , CM000668.1:g.152461276G>C	GRCh37
NC_000006.10:g.152502969G>C	NCBI36
NG_012855.1:g.502259C>G
NG_012855.2:g.502259C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1801C>G MANE Plus Clinical	ENSP00000346701.4:p.Leu601Val
ENST00000367255.10:c.25267C>G MANE Select	ENSP00000356224.5:p.Leu8423Val
ENST00000423061.6:c.25123C>G	ENSP00000396024.1:p.Leu8375Val
ENST00000672154.1:c.669C>G
ENST00000672169.1:c.1002C>G
ENST00000673173.1:c.911C>G
ENST00000673451.1:c.1039C>G	ENSP00000500189.1:p.Leu347Val
ENST00000341594.9:c.24052C>G	ENSP00000341887.6:p.Leu8018Val
ENST00000347037.9:n.2015C>G
ENST00000354674.4:c.1801C>G	ENSP00000346701.4:p.Leu601Val
ENST00000367251.7:c.4102C>G	ENSP00000356220.3:p.Leu1368Val
ENST00000367255.9:c.25267C>G	ENSP00000356224.5:p.Leu8423Val
ENST00000367256.9:n.8959C>G
ENST00000367257.8:c.3205C>G	ENSP00000356226.4:p.Leu1069Val
ENST00000409694.6:n.8851C>G
ENST00000423061.5:c.25123C>G	ENSP00000396024.1:p.Leu8375Val
ENST00000460912.6:n.1881C>G
ENST00000478916.5:n.4289C>G
ENST00000536990.5:n.2104C>G
ENST00000539504.5:c.1732C>G	ENSP00000441052.1:p.Leu578Val
NM_033071.3:c.25123C>G	NP_149062.1:p.Leu8375Val
NM_182961.3:c.25267C>G	NP_892006.3:p.Leu8423Val
XM_006715407.1:c.25372C>G	XP_006715470.1:p.Leu8458Val
XM_006715408.1:c.25360C>G	XP_006715471.1:p.Leu8454Val
XM_006715409.1:c.25351C>G	XP_006715472.1:p.Leu8451Val
XM_006715410.1:c.25372C>G	XP_006715473.1:p.Leu8458Val
XM_006715411.1:c.25321C>G	XP_006715474.1:p.Leu8441Val
XM_006715412.1:c.25357C>G	XP_006715475.1:p.Leu8453Val
XM_006715413.1:c.25303C>G	XP_006715476.1:p.Leu8435Val
XM_006715414.1:c.25300C>G	XP_006715477.1:p.Leu8434Val
XM_006715415.1:c.25303C>G	XP_006715478.1:p.Leu8435Val
XM_006715416.1:c.25288C>G	XP_006715479.1:p.Leu8430Val
XM_006715417.1:c.25231C>G	XP_006715480.1:p.Leu8411Val
XM_006715420.1:c.25219C>G	XP_006715483.1:p.Leu8407Val
XM_006715421.1:c.25216C>G	XP_006715484.1:p.Leu8406Val
XM_006715422.1:c.25213C>G	XP_006715485.1:p.Leu8405Val
XM_006715423.1:c.25372C>G	XP_006715486.1:p.Leu8458Val
XM_006715424.1:c.25372C>G	XP_006715487.1:p.Leu8458Val
XM_006715425.1:c.25303C>G	XP_006715488.1:p.Leu8435Val
XM_011535641.1:c.25369C>G	XP_011533943.1:p.Leu8457Val
XM_011535642.1:c.25357C>G	XP_011533944.1:p.Leu8453Val
XM_011535643.1:c.25207C>G	XP_011533945.1:p.Leu8403Val
XM_011535644.1:c.23647C>G	XP_011533946.1:p.Leu7883Val
XM_011535645.1:c.23140C>G	XP_011533947.1:p.Leu7714Val
XM_011535647.1:c.18607C>G	XP_011533949.1:p.Leu6203Val
NM_001347701.1:c.1873C>G	NP_001334630.1:p.Leu625Val
NM_001347702.1:c.1801C>G	NP_001334631.1:p.Leu601Val
XM_006715408.2:c.25360C>G	XP_006715471.1:p.Leu8454Val
XM_006715410.2:c.25372C>G	XP_006715473.1:p.Leu8458Val
XM_006715412.2:c.25357C>G	XP_006715475.1:p.Leu8453Val
XM_006715413.2:c.25303C>G	XP_006715476.1:p.Leu8435Val
XM_006715415.2:c.25303C>G	XP_006715478.1:p.Leu8435Val
XM_006715416.2:c.25288C>G	XP_006715479.1:p.Leu8430Val
XM_006715417.2:c.25231C>G	XP_006715480.1:p.Leu8411Val
XM_006715420.2:c.25219C>G	XP_006715483.1:p.Leu8407Val
XM_006715421.2:c.25216C>G	XP_006715484.1:p.Leu8406Val
XM_006715423.2:c.25372C>G	XP_006715486.1:p.Leu8458Val
XM_006715424.2:c.25372C>G	XP_006715487.1:p.Leu8458Val
XM_006715425.2:c.25303C>G	XP_006715488.1:p.Leu8435Val
XM_011535641.2:c.25369C>G	XP_011533943.1:p.Leu8457Val
XM_011535642.2:c.25357C>G	XP_011533944.1:p.Leu8453Val
XM_011535645.2:c.23140C>G	XP_011533947.1:p.Leu7714Val
XM_017010608.1:c.25372C>G	XP_016866097.1:p.Leu8458Val
XM_017010609.1:c.25372C>G	XP_016866098.1:p.Leu8458Val
XM_017010610.1:c.25351C>G	XP_016866099.1:p.Leu8451Val
XM_017010611.2:c.25345C>G	XP_016866100.1:p.Leu8449Val
XM_017010612.1:c.25294C>G	XP_016866101.1:p.Leu8432Val
XM_017010613.1:c.25300C>G	XP_016866102.1:p.Leu8434Val
XM_017010614.1:c.25216C>G	XP_016866103.1:p.Leu8406Val
XM_017010615.1:c.25147C>G	XP_016866104.1:p.Leu8383Val
XM_017010616.1:c.25303C>G	XP_016866105.1:p.Leu8435Val
XM_017010617.1:c.25300C>G	XP_016866106.1:p.Leu8434Val
XM_017010618.1:c.25288C>G	XP_016866107.1:p.Leu8430Val
XM_017010619.1:c.23647C>G	XP_016866108.1:p.Leu7883Val
NM_182961.4:c.25267C>G MANE Select	NP_892006.3:p.Leu8423Val
NM_001347701.2:c.1873C>G	NP_001334630.1:p.Leu625Val
NM_001347702.2:c.1801C>G MANE Plus Clinical	NP_001334631.1:p.Leu601Val
NM_033071.5:c.25123C>G	NP_149062.2:p.Leu8375Val