Canonical Allele Identifier: CA366080686
Gene: SYNE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152140101T>A , CM000668.2:g.152140101T>A GRCh38
NC_000006.11:g.152461236T>A , CM000668.1:g.152461236T>A GRCh37
NC_000006.10:g.152502929T>A NCBI36
NG_012855.1:g.502299A>T
NG_012855.2:g.502299A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.1841A>T MANE Plus Clinical ENSP00000346701.4:p.Lys614Met
ENST00000367255.10:c.25307A>T MANE Select ENSP00000356224.5:p.Lys8436Met
ENST00000423061.6:c.25163A>T ENSP00000396024.1:p.Lys8388Met
ENST00000672154.1:c.709A>T
ENST00000672169.1:c.1042A>T
ENST00000673173.1:c.951A>T
ENST00000673451.1:c.1079A>T ENSP00000500189.1:p.Lys360Met
ENST00000341594.9:c.24092A>T ENSP00000341887.6:p.Lys8031Met
ENST00000347037.9:n.2055A>T
ENST00000354674.4:c.1841A>T ENSP00000346701.4:p.Lys614Met
ENST00000367251.7:c.4142A>T ENSP00000356220.3:p.Lys1381Met
ENST00000367255.9:c.25307A>T ENSP00000356224.5:p.Lys8436Met
ENST00000367256.9:n.8999A>T
ENST00000367257.8:c.3245A>T ENSP00000356226.4:p.Lys1082Met
ENST00000409694.6:n.8891A>T
ENST00000423061.5:c.25163A>T ENSP00000396024.1:p.Lys8388Met
ENST00000460912.6:n.1921A>T
ENST00000478916.5:n.4329A>T
ENST00000536990.5:n.2144A>T
ENST00000539504.5:c.1772A>T ENSP00000441052.1:p.Lys591Met
NM_033071.3:c.25163A>T NP_149062.1:p.Lys8388Met
NM_182961.3:c.25307A>T NP_892006.3:p.Lys8436Met
XM_006715407.1:c.25412A>T XP_006715470.1:p.Lys8471Met
XM_006715408.1:c.25400A>T XP_006715471.1:p.Lys8467Met
XM_006715409.1:c.25391A>T XP_006715472.1:p.Lys8464Met
XM_006715410.1:c.25412A>T XP_006715473.1:p.Lys8471Met
XM_006715411.1:c.25361A>T XP_006715474.1:p.Lys8454Met
XM_006715412.1:c.25397A>T XP_006715475.1:p.Lys8466Met
XM_006715413.1:c.25343A>T XP_006715476.1:p.Lys8448Met
XM_006715414.1:c.25340A>T XP_006715477.1:p.Lys8447Met
XM_006715415.1:c.25343A>T XP_006715478.1:p.Lys8448Met
XM_006715416.1:c.25328A>T XP_006715479.1:p.Lys8443Met
XM_006715417.1:c.25271A>T XP_006715480.1:p.Lys8424Met
XM_006715420.1:c.25259A>T XP_006715483.1:p.Lys8420Met
XM_006715421.1:c.25256A>T XP_006715484.1:p.Lys8419Met
XM_006715422.1:c.25253A>T XP_006715485.1:p.Lys8418Met
XM_006715423.1:c.25412A>T XP_006715486.1:p.Lys8471Met
XM_006715424.1:c.25412A>T XP_006715487.1:p.Lys8471Met
XM_006715425.1:c.25343A>T XP_006715488.1:p.Lys8448Met
XM_011535641.1:c.25409A>T XP_011533943.1:p.Lys8470Met
XM_011535642.1:c.25397A>T XP_011533944.1:p.Lys8466Met
XM_011535643.1:c.25247A>T XP_011533945.1:p.Lys8416Met
XM_011535644.1:c.23687A>T XP_011533946.1:p.Lys7896Met
XM_011535645.1:c.23180A>T XP_011533947.1:p.Lys7727Met
XM_011535647.1:c.18647A>T XP_011533949.1:p.Lys6216Met
NM_001347701.1:c.1913A>T NP_001334630.1:p.Lys638Met
NM_001347702.1:c.1841A>T NP_001334631.1:p.Lys614Met
XM_006715408.2:c.25400A>T XP_006715471.1:p.Lys8467Met
XM_006715410.2:c.25412A>T XP_006715473.1:p.Lys8471Met
XM_006715412.2:c.25397A>T XP_006715475.1:p.Lys8466Met
XM_006715413.2:c.25343A>T XP_006715476.1:p.Lys8448Met
XM_006715415.2:c.25343A>T XP_006715478.1:p.Lys8448Met
XM_006715416.2:c.25328A>T XP_006715479.1:p.Lys8443Met
XM_006715417.2:c.25271A>T XP_006715480.1:p.Lys8424Met
XM_006715420.2:c.25259A>T XP_006715483.1:p.Lys8420Met
XM_006715421.2:c.25256A>T XP_006715484.1:p.Lys8419Met
XM_006715423.2:c.25412A>T XP_006715486.1:p.Lys8471Met
XM_006715424.2:c.25412A>T XP_006715487.1:p.Lys8471Met
XM_006715425.2:c.25343A>T XP_006715488.1:p.Lys8448Met
XM_011535641.2:c.25409A>T XP_011533943.1:p.Lys8470Met
XM_011535642.2:c.25397A>T XP_011533944.1:p.Lys8466Met
XM_011535645.2:c.23180A>T XP_011533947.1:p.Lys7727Met
XM_017010608.1:c.25412A>T XP_016866097.1:p.Lys8471Met
XM_017010609.1:c.25412A>T XP_016866098.1:p.Lys8471Met
XM_017010610.1:c.25391A>T XP_016866099.1:p.Lys8464Met
XM_017010611.2:c.25385A>T XP_016866100.1:p.Lys8462Met
XM_017010612.1:c.25334A>T XP_016866101.1:p.Lys8445Met
XM_017010613.1:c.25340A>T XP_016866102.1:p.Lys8447Met
XM_017010614.1:c.25256A>T XP_016866103.1:p.Lys8419Met
XM_017010615.1:c.25187A>T XP_016866104.1:p.Lys8396Met
XM_017010616.1:c.25343A>T XP_016866105.1:p.Lys8448Met
XM_017010617.1:c.25340A>T XP_016866106.1:p.Lys8447Met
XM_017010618.1:c.25328A>T XP_016866107.1:p.Lys8443Met
XM_017010619.1:c.23687A>T XP_016866108.1:p.Lys7896Met
NM_182961.4:c.25307A>T MANE Select NP_892006.3:p.Lys8436Met
NM_001347701.2:c.1913A>T NP_001334630.1:p.Lys638Met
NM_001347702.2:c.1841A>T MANE Plus Clinical NP_001334631.1:p.Lys614Met
NM_033071.5:c.25163A>T NP_149062.2:p.Lys8388Met