Canonical Allele Identifier: CA366088580

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122488G>T , CM000668.2:g.152122488G>T GRCh38
NC_000006.11:g.152443623G>T , CM000668.1:g.152443623G>T GRCh37
NC_000006.10:g.152485316G>T NCBI36
NG_012855.1:g.519912C>A
NG_008493.2:g.470798G>T
NG_012855.2:g.519912C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2876C>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Ala959Asp
ENST00000367255.10:c.26342C>A (SYNE1) MANE Select ENSP00000356224.5:p.Ala8781Asp
ENST00000423061.6:c.26198C>A (SYNE1) ENSP00000396024.1:p.Ala8733Asp
ENST00000672154.1:c.1685C>A (SYNE1)
ENST00000672169.1:c.2060C>A (SYNE1)
ENST00000673173.1:c.1927C>A (SYNE1)
ENST00000673451.1:c.2192C>A (SYNE1) ENSP00000500189.1:n.2192C>A
ENST00000341594.9:c.25127C>A (SYNE1) ENSP00000341887.6:p.Ala8376Asp
ENST00000347037.9:n.3090C>A (SYNE1)
ENST00000354674.4:c.2876C>A (SYNE1) ENSP00000346701.4:p.Ala959Asp
ENST00000367251.7:c.5118C>A (SYNE1) ENSP00000356220.3:n.5118C>A
ENST00000367255.9:c.26342C>A (SYNE1) ENSP00000356224.5:p.Ala8781Asp
ENST00000367256.9:n.10034C>A (SYNE1)
ENST00000367257.8:c.4221C>A (SYNE1) ENSP00000356226.4:n.4221C>A
ENST00000409694.6:n.9926C>A (SYNE1)
ENST00000423061.5:c.26198C>A (SYNE1) ENSP00000396024.1:p.Ala8733Asp
ENST00000427531.6:c.851-2778G>T (ESR1) ENSP00000394721.2:n.851-2778G>T
ENST00000460912.6:n.2956C>A (SYNE1)
ENST00000478916.5:n.6979C>A (SYNE1)
ENST00000539504.5:c.2807C>A (SYNE1) ENSP00000441052.1:p.Ala936Asp
NM_033071.3:c.26198C>A (SYNE1) NP_149062.1:p.Ala8733Asp
NM_182961.3:c.26342C>A (SYNE1) NP_892006.3:p.Ala8781Asp
XM_006715407.1:c.26489C>A (SYNE1) XP_006715470.1:p.Ala8830Asp
XM_006715408.1:c.26477C>A (SYNE1) XP_006715471.1:p.Ala8826Asp
XM_006715409.1:c.26468C>A (SYNE1) XP_006715472.1:p.Ala8823Asp
XM_006715410.1:c.26447C>A (SYNE1) XP_006715473.1:p.Ala8816Asp
XM_006715411.1:c.26438C>A (SYNE1) XP_006715474.1:p.Ala8813Asp
XM_006715412.1:c.26432C>A (SYNE1) XP_006715475.1:p.Ala8811Asp
XM_006715413.1:c.26420C>A (SYNE1) XP_006715476.1:p.Ala8807Asp
XM_006715414.1:c.26417C>A (SYNE1) XP_006715477.1:p.Ala8806Asp
XM_006715415.1:c.26378C>A (SYNE1) XP_006715478.1:p.Ala8793Asp
XM_006715416.1:c.26363C>A (SYNE1) XP_006715479.1:p.Ala8788Asp
XM_006715417.1:c.26348C>A (SYNE1) XP_006715480.1:p.Ala8783Asp
XM_006715420.1:c.26336C>A (SYNE1) XP_006715483.1:p.Ala8779Asp
XM_006715421.1:c.26333C>A (SYNE1) XP_006715484.1:p.Ala8778Asp
XM_006715422.1:c.26330C>A (SYNE1) XP_006715485.1:p.Ala8777Asp
XM_006715423.1:c.*153C>A (SYNE1) XP_006715486.1:n.*153C>A
XM_006715424.1:c.*153C>A (SYNE1) XP_006715487.1:n.*153C>A
XM_006715425.1:c.*153C>A (SYNE1) XP_006715488.1:n.*153C>A
XM_011535641.1:c.26486C>A (SYNE1) XP_011533943.1:p.Ala8829Asp
XM_011535642.1:c.26474C>A (SYNE1) XP_011533944.1:p.Ala8825Asp
XM_011535643.1:c.26324C>A (SYNE1) XP_011533945.1:p.Ala8775Asp
XM_011535644.1:c.24764C>A (SYNE1) XP_011533946.1:p.Ala8255Asp
XM_011535645.1:c.24257C>A (SYNE1) XP_011533947.1:p.Ala8086Asp
XM_011535647.1:c.19724C>A (SYNE1) XP_011533949.1:p.Ala6575Asp
NM_001328100.1:c.851-2778G>T (ESR1) NP_001315029.1:n.851-2778G>T
NM_001347701.1:c.*153C>A (SYNE1) NP_001334630.1:n.*153C>A
NM_001347702.1:c.2876C>A (SYNE1) NP_001334631.1:p.Ala959Asp
XM_006715408.2:c.26477C>A (SYNE1) XP_006715471.1:p.Ala8826Asp
XM_006715410.2:c.26447C>A (SYNE1) XP_006715473.1:p.Ala8816Asp
XM_006715412.2:c.26432C>A (SYNE1) XP_006715475.1:p.Ala8811Asp
XM_006715413.2:c.26420C>A (SYNE1) XP_006715476.1:p.Ala8807Asp
XM_006715415.2:c.26378C>A (SYNE1) XP_006715478.1:p.Ala8793Asp
XM_006715416.2:c.26363C>A (SYNE1) XP_006715479.1:p.Ala8788Asp
XM_006715417.2:c.26348C>A (SYNE1) XP_006715480.1:p.Ala8783Asp
XM_006715420.2:c.26336C>A (SYNE1) XP_006715483.1:p.Ala8779Asp
XM_006715421.2:c.26333C>A (SYNE1) XP_006715484.1:p.Ala8778Asp
XM_006715423.2:c.*153C>A (SYNE1) XP_006715486.1:n.*153C>A
XM_006715424.2:c.*153C>A (SYNE1) XP_006715487.1:n.*153C>A
XM_006715425.2:c.*153C>A (SYNE1) XP_006715488.1:n.*153C>A
XM_011535641.2:c.26486C>A (SYNE1) XP_011533943.1:p.Ala8829Asp
XM_011535642.2:c.26474C>A (SYNE1) XP_011533944.1:p.Ala8825Asp
XM_011535645.2:c.24257C>A (SYNE1) XP_011533947.1:p.Ala8086Asp
XM_017010608.1:c.26489C>A (SYNE1) XP_016866097.1:p.Ala8830Asp
XM_017010609.1:c.26489C>A (SYNE1) XP_016866098.1:p.Ala8830Asp
XM_017010610.1:c.26468C>A (SYNE1) XP_016866099.1:p.Ala8823Asp
XM_017010611.2:c.26462C>A (SYNE1) XP_016866100.1:p.Ala8821Asp
XM_017010612.1:c.26411C>A (SYNE1) XP_016866101.1:p.Ala8804Asp
XM_017010613.1:c.26375C>A (SYNE1) XP_016866102.1:p.Ala8792Asp
XM_017010614.1:c.26333C>A (SYNE1) XP_016866103.1:p.Ala8778Asp
XM_017010615.1:c.26222C>A (SYNE1) XP_016866104.1:p.Ala8741Asp
XM_017010616.1:c.*153C>A (SYNE1) XP_016866105.1:n.*153C>A
XM_017010617.1:c.*153C>A (SYNE1) XP_016866106.1:n.*153C>A
XM_017010618.1:c.*153C>A (SYNE1) XP_016866107.1:n.*153C>A
XM_017010619.1:c.24764C>A (SYNE1) XP_016866108.1:p.Ala8255Asp
NM_182961.4:c.26342C>A (SYNE1) MANE Select NP_892006.3:p.Ala8781Asp
NM_001328100.2:c.851-2778G>T (ESR1) NP_001315029.1:n.851-2778G>T
NM_001347701.2:c.*153C>A (SYNE1) NP_001334630.1:n.*153C>A
NM_001347702.2:c.2876C>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Ala959Asp
NM_033071.5:c.26198C>A (SYNE1) NP_149062.2:p.Ala8733Asp