Canonical Allele Identifier: CA366088519

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122473G>A , CM000668.2:g.152122473G>A GRCh38
NC_000006.11:g.152443608G>A , CM000668.1:g.152443608G>A GRCh37
NC_000006.10:g.152485301G>A NCBI36
NG_012855.1:g.519927C>T
NG_008493.2:g.470783G>A
NG_012855.2:g.519927C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2891C>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Pro964Leu
ENST00000367255.10:c.26357C>T (SYNE1) MANE Select ENSP00000356224.5:p.Pro8786Leu
ENST00000423061.6:c.26213C>T (SYNE1) ENSP00000396024.1:p.Pro8738Leu
ENST00000672154.1:c.1700C>T (SYNE1)
ENST00000672169.1:c.2075C>T (SYNE1)
ENST00000673173.1:c.1942C>T (SYNE1)
ENST00000673451.1:c.2207C>T (SYNE1) ENSP00000500189.1:n.2207C>T
ENST00000341594.9:c.25142C>T (SYNE1) ENSP00000341887.6:p.Pro8381Leu
ENST00000347037.9:n.3105C>T (SYNE1)
ENST00000354674.4:c.2891C>T (SYNE1) ENSP00000346701.4:p.Pro964Leu
ENST00000367251.7:c.5133C>T (SYNE1) ENSP00000356220.3:n.5133C>T
ENST00000367255.9:c.26357C>T (SYNE1) ENSP00000356224.5:p.Pro8786Leu
ENST00000367256.9:n.10049C>T (SYNE1)
ENST00000367257.8:c.4236C>T (SYNE1) ENSP00000356226.4:n.4236C>T
ENST00000409694.6:n.9941C>T (SYNE1)
ENST00000423061.5:c.26213C>T (SYNE1) ENSP00000396024.1:p.Pro8738Leu
ENST00000427531.6:c.851-2793G>A (ESR1) ENSP00000394721.2:n.851-2793G>A
ENST00000460912.6:n.2971C>T (SYNE1)
ENST00000478916.5:n.6994C>T (SYNE1)
ENST00000539504.5:c.2822C>T (SYNE1) ENSP00000441052.1:p.Pro941Leu
NM_033071.3:c.26213C>T (SYNE1) NP_149062.1:p.Pro8738Leu
NM_182961.3:c.26357C>T (SYNE1) NP_892006.3:p.Pro8786Leu
XM_006715407.1:c.26504C>T (SYNE1) XP_006715470.1:p.Pro8835Leu
XM_006715408.1:c.26492C>T (SYNE1) XP_006715471.1:p.Pro8831Leu
XM_006715409.1:c.26483C>T (SYNE1) XP_006715472.1:p.Pro8828Leu
XM_006715410.1:c.26462C>T (SYNE1) XP_006715473.1:p.Pro8821Leu
XM_006715411.1:c.26453C>T (SYNE1) XP_006715474.1:p.Pro8818Leu
XM_006715412.1:c.26447C>T (SYNE1) XP_006715475.1:p.Pro8816Leu
XM_006715413.1:c.26435C>T (SYNE1) XP_006715476.1:p.Pro8812Leu
XM_006715414.1:c.26432C>T (SYNE1) XP_006715477.1:p.Pro8811Leu
XM_006715415.1:c.26393C>T (SYNE1) XP_006715478.1:p.Pro8798Leu
XM_006715416.1:c.26378C>T (SYNE1) XP_006715479.1:p.Pro8793Leu
XM_006715417.1:c.26363C>T (SYNE1) XP_006715480.1:p.Pro8788Leu
XM_006715420.1:c.26351C>T (SYNE1) XP_006715483.1:p.Pro8784Leu
XM_006715421.1:c.26348C>T (SYNE1) XP_006715484.1:p.Pro8783Leu
XM_006715422.1:c.26345C>T (SYNE1) XP_006715485.1:p.Pro8782Leu
XM_006715423.1:c.*168C>T (SYNE1) XP_006715486.1:n.*168C>T
XM_006715424.1:c.*168C>T (SYNE1) XP_006715487.1:n.*168C>T
XM_006715425.1:c.*168C>T (SYNE1) XP_006715488.1:n.*168C>T
XM_011535641.1:c.26501C>T (SYNE1) XP_011533943.1:p.Pro8834Leu
XM_011535642.1:c.26489C>T (SYNE1) XP_011533944.1:p.Pro8830Leu
XM_011535643.1:c.26339C>T (SYNE1) XP_011533945.1:p.Pro8780Leu
XM_011535644.1:c.24779C>T (SYNE1) XP_011533946.1:p.Pro8260Leu
XM_011535645.1:c.24272C>T (SYNE1) XP_011533947.1:p.Pro8091Leu
XM_011535647.1:c.19739C>T (SYNE1) XP_011533949.1:p.Pro6580Leu
NM_001328100.1:c.851-2793G>A (ESR1) NP_001315029.1:n.851-2793G>A
NM_001347701.1:c.*168C>T (SYNE1) NP_001334630.1:n.*168C>T
NM_001347702.1:c.2891C>T (SYNE1) NP_001334631.1:p.Pro964Leu
XM_006715408.2:c.26492C>T (SYNE1) XP_006715471.1:p.Pro8831Leu
XM_006715410.2:c.26462C>T (SYNE1) XP_006715473.1:p.Pro8821Leu
XM_006715412.2:c.26447C>T (SYNE1) XP_006715475.1:p.Pro8816Leu
XM_006715413.2:c.26435C>T (SYNE1) XP_006715476.1:p.Pro8812Leu
XM_006715415.2:c.26393C>T (SYNE1) XP_006715478.1:p.Pro8798Leu
XM_006715416.2:c.26378C>T (SYNE1) XP_006715479.1:p.Pro8793Leu
XM_006715417.2:c.26363C>T (SYNE1) XP_006715480.1:p.Pro8788Leu
XM_006715420.2:c.26351C>T (SYNE1) XP_006715483.1:p.Pro8784Leu
XM_006715421.2:c.26348C>T (SYNE1) XP_006715484.1:p.Pro8783Leu
XM_006715423.2:c.*168C>T (SYNE1) XP_006715486.1:n.*168C>T
XM_006715424.2:c.*168C>T (SYNE1) XP_006715487.1:n.*168C>T
XM_006715425.2:c.*168C>T (SYNE1) XP_006715488.1:n.*168C>T
XM_011535641.2:c.26501C>T (SYNE1) XP_011533943.1:p.Pro8834Leu
XM_011535642.2:c.26489C>T (SYNE1) XP_011533944.1:p.Pro8830Leu
XM_011535645.2:c.24272C>T (SYNE1) XP_011533947.1:p.Pro8091Leu
XM_017010608.1:c.26504C>T (SYNE1) XP_016866097.1:p.Pro8835Leu
XM_017010609.1:c.26504C>T (SYNE1) XP_016866098.1:p.Pro8835Leu
XM_017010610.1:c.26483C>T (SYNE1) XP_016866099.1:p.Pro8828Leu
XM_017010611.2:c.26477C>T (SYNE1) XP_016866100.1:p.Pro8826Leu
XM_017010612.1:c.26426C>T (SYNE1) XP_016866101.1:p.Pro8809Leu
XM_017010613.1:c.26390C>T (SYNE1) XP_016866102.1:p.Pro8797Leu
XM_017010614.1:c.26348C>T (SYNE1) XP_016866103.1:p.Pro8783Leu
XM_017010615.1:c.26237C>T (SYNE1) XP_016866104.1:p.Pro8746Leu
XM_017010616.1:c.*168C>T (SYNE1) XP_016866105.1:n.*168C>T
XM_017010617.1:c.*168C>T (SYNE1) XP_016866106.1:n.*168C>T
XM_017010618.1:c.*168C>T (SYNE1) XP_016866107.1:n.*168C>T
XM_017010619.1:c.24779C>T (SYNE1) XP_016866108.1:p.Pro8260Leu
NM_182961.4:c.26357C>T (SYNE1) MANE Select NP_892006.3:p.Pro8786Leu
NM_001328100.2:c.851-2793G>A (ESR1) NP_001315029.1:n.851-2793G>A
NM_001347701.2:c.*168C>T (SYNE1) NP_001334630.1:n.*168C>T
NM_001347702.2:c.2891C>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Pro964Leu
NM_033071.5:c.26213C>T (SYNE1) NP_149062.2:p.Pro8738Leu