Canonical Allele Identifier: CA366088436

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122452C>A , CM000668.2:g.152122452C>A GRCh38
NC_000006.11:g.152443587C>A , CM000668.1:g.152443587C>A GRCh37
NC_000006.10:g.152485280C>A NCBI36
NG_012855.1:g.519948G>T
NG_008493.2:g.470762C>A
NG_012855.2:g.519948G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2912G>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Gly971Val
ENST00000367255.10:c.26378G>T (SYNE1) MANE Select ENSP00000356224.5:p.Gly8793Val
ENST00000423061.6:c.26234G>T (SYNE1) ENSP00000396024.1:p.Gly8745Val
ENST00000672154.1:c.1721G>T (SYNE1)
ENST00000672169.1:c.2096G>T (SYNE1)
ENST00000673173.1:c.1963G>T (SYNE1)
ENST00000673451.1:c.2228G>T (SYNE1) ENSP00000500189.1:n.2228G>T
ENST00000341594.9:c.25163G>T (SYNE1) ENSP00000341887.6:p.Gly8388Val
ENST00000347037.9:n.3126G>T (SYNE1)
ENST00000354674.4:c.2912G>T (SYNE1) ENSP00000346701.4:p.Gly971Val
ENST00000367251.7:c.5154G>T (SYNE1) ENSP00000356220.3:n.5154G>T
ENST00000367255.9:c.26378G>T (SYNE1) ENSP00000356224.5:p.Gly8793Val
ENST00000367256.9:n.10070G>T (SYNE1)
ENST00000367257.8:c.4257G>T (SYNE1) ENSP00000356226.4:n.4257G>T
ENST00000409694.6:n.9962G>T (SYNE1)
ENST00000423061.5:c.26234G>T (SYNE1) ENSP00000396024.1:p.Gly8745Val
ENST00000427531.6:c.851-2814C>A (ESR1) ENSP00000394721.2:n.851-2814C>A
ENST00000460912.6:n.2992G>T (SYNE1)
ENST00000478916.5:n.7015G>T (SYNE1)
ENST00000539504.5:c.2843G>T (SYNE1) ENSP00000441052.1:p.Gly948Val
NM_033071.3:c.26234G>T (SYNE1) NP_149062.1:p.Gly8745Val
NM_182961.3:c.26378G>T (SYNE1) NP_892006.3:p.Gly8793Val
XM_006715407.1:c.26525G>T (SYNE1) XP_006715470.1:p.Gly8842Val
XM_006715408.1:c.26513G>T (SYNE1) XP_006715471.1:p.Gly8838Val
XM_006715409.1:c.26504G>T (SYNE1) XP_006715472.1:p.Gly8835Val
XM_006715410.1:c.26483G>T (SYNE1) XP_006715473.1:p.Gly8828Val
XM_006715411.1:c.26474G>T (SYNE1) XP_006715474.1:p.Gly8825Val
XM_006715412.1:c.26468G>T (SYNE1) XP_006715475.1:p.Gly8823Val
XM_006715413.1:c.26456G>T (SYNE1) XP_006715476.1:p.Gly8819Val
XM_006715414.1:c.26453G>T (SYNE1) XP_006715477.1:p.Gly8818Val
XM_006715415.1:c.26414G>T (SYNE1) XP_006715478.1:p.Gly8805Val
XM_006715416.1:c.26399G>T (SYNE1) XP_006715479.1:p.Gly8800Val
XM_006715417.1:c.26384G>T (SYNE1) XP_006715480.1:p.Gly8795Val
XM_006715420.1:c.26372G>T (SYNE1) XP_006715483.1:p.Gly8791Val
XM_006715421.1:c.26369G>T (SYNE1) XP_006715484.1:p.Gly8790Val
XM_006715422.1:c.26366G>T (SYNE1) XP_006715485.1:p.Gly8789Val
XM_006715423.1:c.*189G>T (SYNE1) XP_006715486.1:n.*189G>T
XM_006715424.1:c.*189G>T (SYNE1) XP_006715487.1:n.*189G>T
XM_006715425.1:c.*189G>T (SYNE1) XP_006715488.1:n.*189G>T
XM_011535641.1:c.26522G>T (SYNE1) XP_011533943.1:p.Gly8841Val
XM_011535642.1:c.26510G>T (SYNE1) XP_011533944.1:p.Gly8837Val
XM_011535643.1:c.26360G>T (SYNE1) XP_011533945.1:p.Gly8787Val
XM_011535644.1:c.24800G>T (SYNE1) XP_011533946.1:p.Gly8267Val
XM_011535645.1:c.24293G>T (SYNE1) XP_011533947.1:p.Gly8098Val
XM_011535647.1:c.19760G>T (SYNE1) XP_011533949.1:p.Gly6587Val
NM_001328100.1:c.851-2814C>A (ESR1) NP_001315029.1:n.851-2814C>A
NM_001347701.1:c.*189G>T (SYNE1) NP_001334630.1:n.*189G>T
NM_001347702.1:c.2912G>T (SYNE1) NP_001334631.1:p.Gly971Val
XM_006715408.2:c.26513G>T (SYNE1) XP_006715471.1:p.Gly8838Val
XM_006715410.2:c.26483G>T (SYNE1) XP_006715473.1:p.Gly8828Val
XM_006715412.2:c.26468G>T (SYNE1) XP_006715475.1:p.Gly8823Val
XM_006715413.2:c.26456G>T (SYNE1) XP_006715476.1:p.Gly8819Val
XM_006715415.2:c.26414G>T (SYNE1) XP_006715478.1:p.Gly8805Val
XM_006715416.2:c.26399G>T (SYNE1) XP_006715479.1:p.Gly8800Val
XM_006715417.2:c.26384G>T (SYNE1) XP_006715480.1:p.Gly8795Val
XM_006715420.2:c.26372G>T (SYNE1) XP_006715483.1:p.Gly8791Val
XM_006715421.2:c.26369G>T (SYNE1) XP_006715484.1:p.Gly8790Val
XM_006715423.2:c.*189G>T (SYNE1) XP_006715486.1:n.*189G>T
XM_006715424.2:c.*189G>T (SYNE1) XP_006715487.1:n.*189G>T
XM_006715425.2:c.*189G>T (SYNE1) XP_006715488.1:n.*189G>T
XM_011535641.2:c.26522G>T (SYNE1) XP_011533943.1:p.Gly8841Val
XM_011535642.2:c.26510G>T (SYNE1) XP_011533944.1:p.Gly8837Val
XM_011535645.2:c.24293G>T (SYNE1) XP_011533947.1:p.Gly8098Val
XM_017010608.1:c.26525G>T (SYNE1) XP_016866097.1:p.Gly8842Val
XM_017010609.1:c.26525G>T (SYNE1) XP_016866098.1:p.Gly8842Val
XM_017010610.1:c.26504G>T (SYNE1) XP_016866099.1:p.Gly8835Val
XM_017010611.2:c.26498G>T (SYNE1) XP_016866100.1:p.Gly8833Val
XM_017010612.1:c.26447G>T (SYNE1) XP_016866101.1:p.Gly8816Val
XM_017010613.1:c.26411G>T (SYNE1) XP_016866102.1:p.Gly8804Val
XM_017010614.1:c.26369G>T (SYNE1) XP_016866103.1:p.Gly8790Val
XM_017010615.1:c.26258G>T (SYNE1) XP_016866104.1:p.Gly8753Val
XM_017010616.1:c.*189G>T (SYNE1) XP_016866105.1:n.*189G>T
XM_017010617.1:c.*189G>T (SYNE1) XP_016866106.1:n.*189G>T
XM_017010618.1:c.*189G>T (SYNE1) XP_016866107.1:n.*189G>T
XM_017010619.1:c.24800G>T (SYNE1) XP_016866108.1:p.Gly8267Val
NM_182961.4:c.26378G>T (SYNE1) MANE Select NP_892006.3:p.Gly8793Val
NM_001328100.2:c.851-2814C>A (ESR1) NP_001315029.1:n.851-2814C>A
NM_001347701.2:c.*189G>T (SYNE1) NP_001334630.1:n.*189G>T
NM_001347702.2:c.2912G>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Gly971Val
NM_033071.5:c.26234G>T (SYNE1) NP_149062.2:p.Gly8745Val