Canonical Allele Identifier: CA366080927

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461273G>C (hg19) ; chr6:g.152140138G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140138G>C , CM000668.2:g.152140138G>C	GRCh38
NC_000006.11:g.152461273G>C , CM000668.1:g.152461273G>C	GRCh37
NC_000006.10:g.152502966G>C	NCBI36
NG_012855.1:g.502262C>G
NG_012855.2:g.502262C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1804C>G MANE Plus Clinical	ENSP00000346701.4:p.Leu602Val
ENST00000367255.10:c.25270C>G MANE Select	ENSP00000356224.5:p.Leu8424Val
ENST00000423061.6:c.25126C>G	ENSP00000396024.1:p.Leu8376Val
ENST00000672154.1:c.672C>G
ENST00000672169.1:c.1005C>G
ENST00000673173.1:c.914C>G
ENST00000673451.1:c.1042C>G	ENSP00000500189.1:p.Leu348Val
ENST00000341594.9:c.24055C>G	ENSP00000341887.6:p.Leu8019Val
ENST00000347037.9:n.2018C>G
ENST00000354674.4:c.1804C>G	ENSP00000346701.4:p.Leu602Val
ENST00000367251.7:c.4105C>G	ENSP00000356220.3:p.Leu1369Val
ENST00000367255.9:c.25270C>G	ENSP00000356224.5:p.Leu8424Val
ENST00000367256.9:n.8962C>G
ENST00000367257.8:c.3208C>G	ENSP00000356226.4:p.Leu1070Val
ENST00000409694.6:n.8854C>G
ENST00000423061.5:c.25126C>G	ENSP00000396024.1:p.Leu8376Val
ENST00000460912.6:n.1884C>G
ENST00000478916.5:n.4292C>G
ENST00000536990.5:n.2107C>G
ENST00000539504.5:c.1735C>G	ENSP00000441052.1:p.Leu579Val
NM_033071.3:c.25126C>G	NP_149062.1:p.Leu8376Val
NM_182961.3:c.25270C>G	NP_892006.3:p.Leu8424Val
XM_006715407.1:c.25375C>G	XP_006715470.1:p.Leu8459Val
XM_006715408.1:c.25363C>G	XP_006715471.1:p.Leu8455Val
XM_006715409.1:c.25354C>G	XP_006715472.1:p.Leu8452Val
XM_006715410.1:c.25375C>G	XP_006715473.1:p.Leu8459Val
XM_006715411.1:c.25324C>G	XP_006715474.1:p.Leu8442Val
XM_006715412.1:c.25360C>G	XP_006715475.1:p.Leu8454Val
XM_006715413.1:c.25306C>G	XP_006715476.1:p.Leu8436Val
XM_006715414.1:c.25303C>G	XP_006715477.1:p.Leu8435Val
XM_006715415.1:c.25306C>G	XP_006715478.1:p.Leu8436Val
XM_006715416.1:c.25291C>G	XP_006715479.1:p.Leu8431Val
XM_006715417.1:c.25234C>G	XP_006715480.1:p.Leu8412Val
XM_006715420.1:c.25222C>G	XP_006715483.1:p.Leu8408Val
XM_006715421.1:c.25219C>G	XP_006715484.1:p.Leu8407Val
XM_006715422.1:c.25216C>G	XP_006715485.1:p.Leu8406Val
XM_006715423.1:c.25375C>G	XP_006715486.1:p.Leu8459Val
XM_006715424.1:c.25375C>G	XP_006715487.1:p.Leu8459Val
XM_006715425.1:c.25306C>G	XP_006715488.1:p.Leu8436Val
XM_011535641.1:c.25372C>G	XP_011533943.1:p.Leu8458Val
XM_011535642.1:c.25360C>G	XP_011533944.1:p.Leu8454Val
XM_011535643.1:c.25210C>G	XP_011533945.1:p.Leu8404Val
XM_011535644.1:c.23650C>G	XP_011533946.1:p.Leu7884Val
XM_011535645.1:c.23143C>G	XP_011533947.1:p.Leu7715Val
XM_011535647.1:c.18610C>G	XP_011533949.1:p.Leu6204Val
NM_001347701.1:c.1876C>G	NP_001334630.1:p.Leu626Val
NM_001347702.1:c.1804C>G	NP_001334631.1:p.Leu602Val
XM_006715408.2:c.25363C>G	XP_006715471.1:p.Leu8455Val
XM_006715410.2:c.25375C>G	XP_006715473.1:p.Leu8459Val
XM_006715412.2:c.25360C>G	XP_006715475.1:p.Leu8454Val
XM_006715413.2:c.25306C>G	XP_006715476.1:p.Leu8436Val
XM_006715415.2:c.25306C>G	XP_006715478.1:p.Leu8436Val
XM_006715416.2:c.25291C>G	XP_006715479.1:p.Leu8431Val
XM_006715417.2:c.25234C>G	XP_006715480.1:p.Leu8412Val
XM_006715420.2:c.25222C>G	XP_006715483.1:p.Leu8408Val
XM_006715421.2:c.25219C>G	XP_006715484.1:p.Leu8407Val
XM_006715423.2:c.25375C>G	XP_006715486.1:p.Leu8459Val
XM_006715424.2:c.25375C>G	XP_006715487.1:p.Leu8459Val
XM_006715425.2:c.25306C>G	XP_006715488.1:p.Leu8436Val
XM_011535641.2:c.25372C>G	XP_011533943.1:p.Leu8458Val
XM_011535642.2:c.25360C>G	XP_011533944.1:p.Leu8454Val
XM_011535645.2:c.23143C>G	XP_011533947.1:p.Leu7715Val
XM_017010608.1:c.25375C>G	XP_016866097.1:p.Leu8459Val
XM_017010609.1:c.25375C>G	XP_016866098.1:p.Leu8459Val
XM_017010610.1:c.25354C>G	XP_016866099.1:p.Leu8452Val
XM_017010611.2:c.25348C>G	XP_016866100.1:p.Leu8450Val
XM_017010612.1:c.25297C>G	XP_016866101.1:p.Leu8433Val
XM_017010613.1:c.25303C>G	XP_016866102.1:p.Leu8435Val
XM_017010614.1:c.25219C>G	XP_016866103.1:p.Leu8407Val
XM_017010615.1:c.25150C>G	XP_016866104.1:p.Leu8384Val
XM_017010616.1:c.25306C>G	XP_016866105.1:p.Leu8436Val
XM_017010617.1:c.25303C>G	XP_016866106.1:p.Leu8435Val
XM_017010618.1:c.25291C>G	XP_016866107.1:p.Leu8431Val
XM_017010619.1:c.23650C>G	XP_016866108.1:p.Leu7884Val
NM_182961.4:c.25270C>G MANE Select	NP_892006.3:p.Leu8424Val
NM_001347701.2:c.1876C>G	NP_001334630.1:p.Leu626Val
NM_001347702.2:c.1804C>G MANE Plus Clinical	NP_001334631.1:p.Leu602Val
NM_033071.5:c.25126C>G	NP_149062.2:p.Leu8376Val