Canonical Allele Identifier: CA452969523

Linked Data

MyVariant Identifiers: chr6:g.152443616T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122481T>C , CM000668.2:g.152122481T>C GRCh38
NC_000006.11:g.152443616T>C , CM000668.1:g.152443616T>C GRCh37
NC_000006.10:g.152485309T>C NCBI36
NG_012855.1:g.519919A>G
NG_008493.2:g.470791T>C
NG_012855.2:g.519919A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2883A>G (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Ser961=
ENST00000367255.10:c.26349A>G (SYNE1) MANE Select ENSP00000356224.5:p.Ser8783=
ENST00000423061.6:c.26205A>G (SYNE1) ENSP00000396024.1:p.Ser8735=
ENST00000672154.1:c.1692A>G (SYNE1)
ENST00000672169.1:c.2067A>G (SYNE1)
ENST00000673173.1:c.1934A>G (SYNE1)
ENST00000673451.1:c.2199A>G (SYNE1) ENSP00000500189.1:n.2199A>G
ENST00000341594.9:c.25134A>G (SYNE1) ENSP00000341887.6:p.Ser8378=
ENST00000347037.9:n.3097A>G (SYNE1)
ENST00000354674.4:c.2883A>G (SYNE1) ENSP00000346701.4:p.Ser961=
ENST00000367251.7:c.5125A>G (SYNE1) ENSP00000356220.3:n.5125A>G
ENST00000367255.9:c.26349A>G (SYNE1) ENSP00000356224.5:p.Ser8783=
ENST00000367256.9:n.10041A>G (SYNE1)
ENST00000367257.8:c.4228A>G (SYNE1) ENSP00000356226.4:n.4228A>G
ENST00000409694.6:n.9933A>G (SYNE1)
ENST00000423061.5:c.26205A>G (SYNE1) ENSP00000396024.1:p.Ser8735=
ENST00000427531.6:c.851-2785T>C (ESR1) ENSP00000394721.2:n.851-2785T>C
ENST00000460912.6:n.2963A>G (SYNE1)
ENST00000478916.5:n.6986A>G (SYNE1)
ENST00000539504.5:c.2814A>G (SYNE1) ENSP00000441052.1:p.Ser938=
NM_033071.3:c.26205A>G (SYNE1) NP_149062.1:p.Ser8735=
NM_182961.3:c.26349A>G (SYNE1) NP_892006.3:p.Ser8783=
XM_006715407.1:c.26496A>G (SYNE1) XP_006715470.1:p.Ser8832=
XM_006715408.1:c.26484A>G (SYNE1) XP_006715471.1:p.Ser8828=
XM_006715409.1:c.26475A>G (SYNE1) XP_006715472.1:p.Ser8825=
XM_006715410.1:c.26454A>G (SYNE1) XP_006715473.1:p.Ser8818=
XM_006715411.1:c.26445A>G (SYNE1) XP_006715474.1:p.Ser8815=
XM_006715412.1:c.26439A>G (SYNE1) XP_006715475.1:p.Ser8813=
XM_006715413.1:c.26427A>G (SYNE1) XP_006715476.1:p.Ser8809=
XM_006715414.1:c.26424A>G (SYNE1) XP_006715477.1:p.Ser8808=
XM_006715415.1:c.26385A>G (SYNE1) XP_006715478.1:p.Ser8795=
XM_006715416.1:c.26370A>G (SYNE1) XP_006715479.1:p.Ser8790=
XM_006715417.1:c.26355A>G (SYNE1) XP_006715480.1:p.Ser8785=
XM_006715420.1:c.26343A>G (SYNE1) XP_006715483.1:p.Ser8781=
XM_006715421.1:c.26340A>G (SYNE1) XP_006715484.1:p.Ser8780=
XM_006715422.1:c.26337A>G (SYNE1) XP_006715485.1:p.Ser8779=
XM_006715423.1:c.*160A>G (SYNE1) XP_006715486.1:n.*160A>G
XM_006715424.1:c.*160A>G (SYNE1) XP_006715487.1:n.*160A>G
XM_006715425.1:c.*160A>G (SYNE1) XP_006715488.1:n.*160A>G
XM_011535641.1:c.26493A>G (SYNE1) XP_011533943.1:p.Ser8831=
XM_011535642.1:c.26481A>G (SYNE1) XP_011533944.1:p.Ser8827=
XM_011535643.1:c.26331A>G (SYNE1) XP_011533945.1:p.Ser8777=
XM_011535644.1:c.24771A>G (SYNE1) XP_011533946.1:p.Ser8257=
XM_011535645.1:c.24264A>G (SYNE1) XP_011533947.1:p.Ser8088=
XM_011535647.1:c.19731A>G (SYNE1) XP_011533949.1:p.Ser6577=
NM_001328100.1:c.851-2785T>C (ESR1) NP_001315029.1:n.851-2785T>C
NM_001347701.1:c.*160A>G (SYNE1) NP_001334630.1:n.*160A>G
NM_001347702.1:c.2883A>G (SYNE1) NP_001334631.1:p.Ser961=
XM_006715408.2:c.26484A>G (SYNE1) XP_006715471.1:p.Ser8828=
XM_006715410.2:c.26454A>G (SYNE1) XP_006715473.1:p.Ser8818=
XM_006715412.2:c.26439A>G (SYNE1) XP_006715475.1:p.Ser8813=
XM_006715413.2:c.26427A>G (SYNE1) XP_006715476.1:p.Ser8809=
XM_006715415.2:c.26385A>G (SYNE1) XP_006715478.1:p.Ser8795=
XM_006715416.2:c.26370A>G (SYNE1) XP_006715479.1:p.Ser8790=
XM_006715417.2:c.26355A>G (SYNE1) XP_006715480.1:p.Ser8785=
XM_006715420.2:c.26343A>G (SYNE1) XP_006715483.1:p.Ser8781=
XM_006715421.2:c.26340A>G (SYNE1) XP_006715484.1:p.Ser8780=
XM_006715423.2:c.*160A>G (SYNE1) XP_006715486.1:n.*160A>G
XM_006715424.2:c.*160A>G (SYNE1) XP_006715487.1:n.*160A>G
XM_006715425.2:c.*160A>G (SYNE1) XP_006715488.1:n.*160A>G
XM_011535641.2:c.26493A>G (SYNE1) XP_011533943.1:p.Ser8831=
XM_011535642.2:c.26481A>G (SYNE1) XP_011533944.1:p.Ser8827=
XM_011535645.2:c.24264A>G (SYNE1) XP_011533947.1:p.Ser8088=
XM_017010608.1:c.26496A>G (SYNE1) XP_016866097.1:p.Ser8832=
XM_017010609.1:c.26496A>G (SYNE1) XP_016866098.1:p.Ser8832=
XM_017010610.1:c.26475A>G (SYNE1) XP_016866099.1:p.Ser8825=
XM_017010611.2:c.26469A>G (SYNE1) XP_016866100.1:p.Ser8823=
XM_017010612.1:c.26418A>G (SYNE1) XP_016866101.1:p.Ser8806=
XM_017010613.1:c.26382A>G (SYNE1) XP_016866102.1:p.Ser8794=
XM_017010614.1:c.26340A>G (SYNE1) XP_016866103.1:p.Ser8780=
XM_017010615.1:c.26229A>G (SYNE1) XP_016866104.1:p.Ser8743=
XM_017010616.1:c.*160A>G (SYNE1) XP_016866105.1:n.*160A>G
XM_017010617.1:c.*160A>G (SYNE1) XP_016866106.1:n.*160A>G
XM_017010618.1:c.*160A>G (SYNE1) XP_016866107.1:n.*160A>G
XM_017010619.1:c.24771A>G (SYNE1) XP_016866108.1:p.Ser8257=
NM_182961.4:c.26349A>G (SYNE1) MANE Select NP_892006.3:p.Ser8783=
NM_001328100.2:c.851-2785T>C (ESR1) NP_001315029.1:n.851-2785T>C
NM_001347701.2:c.*160A>G (SYNE1) NP_001334630.1:n.*160A>G
NM_001347702.2:c.2883A>G (SYNE1) MANE Plus Clinical NP_001334631.1:p.Ser961=
NM_033071.5:c.26205A>G (SYNE1) NP_149062.2:p.Ser8735=