Canonical Allele Identifier: CA366080592

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461222T>C (hg19) ; chr6:g.152140087T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140087T>C , CM000668.2:g.152140087T>C	GRCh38
NC_000006.11:g.152461222T>C , CM000668.1:g.152461222T>C	GRCh37
NC_000006.10:g.152502915T>C	NCBI36
NG_012855.1:g.502313A>G
NG_012855.2:g.502313A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1855A>G MANE Plus Clinical	ENSP00000346701.4:p.Lys619Glu
ENST00000367255.10:c.25321A>G MANE Select	ENSP00000356224.5:p.Lys8441Glu
ENST00000423061.6:c.25177A>G	ENSP00000396024.1:p.Lys8393Glu
ENST00000672154.1:c.723A>G
ENST00000672169.1:c.1056A>G
ENST00000673173.1:c.965A>G
ENST00000673451.1:c.1093A>G	ENSP00000500189.1:p.Lys365Glu
ENST00000341594.9:c.24106A>G	ENSP00000341887.6:p.Lys8036Glu
ENST00000347037.9:n.2069A>G
ENST00000354674.4:c.1855A>G	ENSP00000346701.4:p.Lys619Glu
ENST00000367251.7:c.4156A>G	ENSP00000356220.3:p.Lys1386Glu
ENST00000367255.9:c.25321A>G	ENSP00000356224.5:p.Lys8441Glu
ENST00000367256.9:n.9013A>G
ENST00000367257.8:c.3259A>G	ENSP00000356226.4:p.Lys1087Glu
ENST00000409694.6:n.8905A>G
ENST00000423061.5:c.25177A>G	ENSP00000396024.1:p.Lys8393Glu
ENST00000460912.6:n.1935A>G
ENST00000478916.5:n.4343A>G
ENST00000536990.5:n.2158A>G
ENST00000539504.5:c.1786A>G	ENSP00000441052.1:p.Lys596Glu
NM_033071.3:c.25177A>G	NP_149062.1:p.Lys8393Glu
NM_182961.3:c.25321A>G	NP_892006.3:p.Lys8441Glu
XM_006715407.1:c.25426A>G	XP_006715470.1:p.Lys8476Glu
XM_006715408.1:c.25414A>G	XP_006715471.1:p.Lys8472Glu
XM_006715409.1:c.25405A>G	XP_006715472.1:p.Lys8469Glu
XM_006715410.1:c.25426A>G	XP_006715473.1:p.Lys8476Glu
XM_006715411.1:c.25375A>G	XP_006715474.1:p.Lys8459Glu
XM_006715412.1:c.25411A>G	XP_006715475.1:p.Lys8471Glu
XM_006715413.1:c.25357A>G	XP_006715476.1:p.Lys8453Glu
XM_006715414.1:c.25354A>G	XP_006715477.1:p.Lys8452Glu
XM_006715415.1:c.25357A>G	XP_006715478.1:p.Lys8453Glu
XM_006715416.1:c.25342A>G	XP_006715479.1:p.Lys8448Glu
XM_006715417.1:c.25285A>G	XP_006715480.1:p.Lys8429Glu
XM_006715420.1:c.25273A>G	XP_006715483.1:p.Lys8425Glu
XM_006715421.1:c.25270A>G	XP_006715484.1:p.Lys8424Glu
XM_006715422.1:c.25267A>G	XP_006715485.1:p.Lys8423Glu
XM_006715423.1:c.25426A>G	XP_006715486.1:p.Lys8476Glu
XM_006715424.1:c.25426A>G	XP_006715487.1:p.Lys8476Glu
XM_006715425.1:c.25357A>G	XP_006715488.1:p.Lys8453Glu
XM_011535641.1:c.25423A>G	XP_011533943.1:p.Lys8475Glu
XM_011535642.1:c.25411A>G	XP_011533944.1:p.Lys8471Glu
XM_011535643.1:c.25261A>G	XP_011533945.1:p.Lys8421Glu
XM_011535644.1:c.23701A>G	XP_011533946.1:p.Lys7901Glu
XM_011535645.1:c.23194A>G	XP_011533947.1:p.Lys7732Glu
XM_011535647.1:c.18661A>G	XP_011533949.1:p.Lys6221Glu
NM_001347701.1:c.1927A>G	NP_001334630.1:p.Lys643Glu
NM_001347702.1:c.1855A>G	NP_001334631.1:p.Lys619Glu
XM_006715408.2:c.25414A>G	XP_006715471.1:p.Lys8472Glu
XM_006715410.2:c.25426A>G	XP_006715473.1:p.Lys8476Glu
XM_006715412.2:c.25411A>G	XP_006715475.1:p.Lys8471Glu
XM_006715413.2:c.25357A>G	XP_006715476.1:p.Lys8453Glu
XM_006715415.2:c.25357A>G	XP_006715478.1:p.Lys8453Glu
XM_006715416.2:c.25342A>G	XP_006715479.1:p.Lys8448Glu
XM_006715417.2:c.25285A>G	XP_006715480.1:p.Lys8429Glu
XM_006715420.2:c.25273A>G	XP_006715483.1:p.Lys8425Glu
XM_006715421.2:c.25270A>G	XP_006715484.1:p.Lys8424Glu
XM_006715423.2:c.25426A>G	XP_006715486.1:p.Lys8476Glu
XM_006715424.2:c.25426A>G	XP_006715487.1:p.Lys8476Glu
XM_006715425.2:c.25357A>G	XP_006715488.1:p.Lys8453Glu
XM_011535641.2:c.25423A>G	XP_011533943.1:p.Lys8475Glu
XM_011535642.2:c.25411A>G	XP_011533944.1:p.Lys8471Glu
XM_011535645.2:c.23194A>G	XP_011533947.1:p.Lys7732Glu
XM_017010608.1:c.25426A>G	XP_016866097.1:p.Lys8476Glu
XM_017010609.1:c.25426A>G	XP_016866098.1:p.Lys8476Glu
XM_017010610.1:c.25405A>G	XP_016866099.1:p.Lys8469Glu
XM_017010611.2:c.25399A>G	XP_016866100.1:p.Lys8467Glu
XM_017010612.1:c.25348A>G	XP_016866101.1:p.Lys8450Glu
XM_017010613.1:c.25354A>G	XP_016866102.1:p.Lys8452Glu
XM_017010614.1:c.25270A>G	XP_016866103.1:p.Lys8424Glu
XM_017010615.1:c.25201A>G	XP_016866104.1:p.Lys8401Glu
XM_017010616.1:c.25357A>G	XP_016866105.1:p.Lys8453Glu
XM_017010617.1:c.25354A>G	XP_016866106.1:p.Lys8452Glu
XM_017010618.1:c.25342A>G	XP_016866107.1:p.Lys8448Glu
XM_017010619.1:c.23701A>G	XP_016866108.1:p.Lys7901Glu
NM_182961.4:c.25321A>G MANE Select	NP_892006.3:p.Lys8441Glu
NM_001347701.2:c.1927A>G	NP_001334630.1:p.Lys643Glu
NM_001347702.2:c.1855A>G MANE Plus Clinical	NP_001334631.1:p.Lys619Glu
NM_033071.5:c.25177A>G	NP_149062.2:p.Lys8393Glu