Canonical Allele Identifier: CA366088804

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122534G>T , CM000668.2:g.152122534G>T GRCh38
NC_000006.11:g.152443669G>T , CM000668.1:g.152443669G>T GRCh37
NC_000006.10:g.152485362G>T NCBI36
NG_012855.1:g.519866C>A
NG_008493.2:g.470844G>T
NG_012855.2:g.519866C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2830C>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Pro944Thr
ENST00000367255.10:c.26296C>A (SYNE1) MANE Select ENSP00000356224.5:p.Pro8766Thr
ENST00000423061.6:c.26152C>A (SYNE1) ENSP00000396024.1:p.Pro8718Thr
ENST00000672154.1:c.1639C>A (SYNE1)
ENST00000672169.1:c.2014C>A (SYNE1)
ENST00000673173.1:c.1881C>A (SYNE1)
ENST00000673451.1:c.2146C>A (SYNE1) ENSP00000500189.1:n.2146C>A
ENST00000341594.9:c.25081C>A (SYNE1) ENSP00000341887.6:p.Pro8361Thr
ENST00000347037.9:n.3044C>A (SYNE1)
ENST00000354674.4:c.2830C>A (SYNE1) ENSP00000346701.4:p.Pro944Thr
ENST00000367251.7:c.5072C>A (SYNE1) ENSP00000356220.3:n.5072C>A
ENST00000367255.9:c.26296C>A (SYNE1) ENSP00000356224.5:p.Pro8766Thr
ENST00000367256.9:n.9988C>A (SYNE1)
ENST00000367257.8:c.4175C>A (SYNE1) ENSP00000356226.4:n.4175C>A
ENST00000409694.6:n.9880C>A (SYNE1)
ENST00000423061.5:c.26152C>A (SYNE1) ENSP00000396024.1:p.Pro8718Thr
ENST00000427531.6:c.851-2732G>T (ESR1) ENSP00000394721.2:n.851-2732G>T
ENST00000460912.6:n.2910C>A (SYNE1)
ENST00000478916.5:n.6933C>A (SYNE1)
ENST00000539504.5:c.2761C>A (SYNE1) ENSP00000441052.1:p.Pro921Thr
NM_033071.3:c.26152C>A (SYNE1) NP_149062.1:p.Pro8718Thr
NM_182961.3:c.26296C>A (SYNE1) NP_892006.3:p.Pro8766Thr
XM_006715407.1:c.26443C>A (SYNE1) XP_006715470.1:p.Pro8815Thr
XM_006715408.1:c.26431C>A (SYNE1) XP_006715471.1:p.Pro8811Thr
XM_006715409.1:c.26422C>A (SYNE1) XP_006715472.1:p.Pro8808Thr
XM_006715410.1:c.26401C>A (SYNE1) XP_006715473.1:p.Pro8801Thr
XM_006715411.1:c.26392C>A (SYNE1) XP_006715474.1:p.Pro8798Thr
XM_006715412.1:c.26386C>A (SYNE1) XP_006715475.1:p.Pro8796Thr
XM_006715413.1:c.26374C>A (SYNE1) XP_006715476.1:p.Pro8792Thr
XM_006715414.1:c.26371C>A (SYNE1) XP_006715477.1:p.Pro8791Thr
XM_006715415.1:c.26332C>A (SYNE1) XP_006715478.1:p.Pro8778Thr
XM_006715416.1:c.26317C>A (SYNE1) XP_006715479.1:p.Pro8773Thr
XM_006715417.1:c.26302C>A (SYNE1) XP_006715480.1:p.Pro8768Thr
XM_006715420.1:c.26290C>A (SYNE1) XP_006715483.1:p.Pro8764Thr
XM_006715421.1:c.26287C>A (SYNE1) XP_006715484.1:p.Pro8763Thr
XM_006715422.1:c.26284C>A (SYNE1) XP_006715485.1:p.Pro8762Thr
XM_006715423.1:c.*107C>A (SYNE1) XP_006715486.1:n.*107C>A
XM_006715424.1:c.*107C>A (SYNE1) XP_006715487.1:n.*107C>A
XM_006715425.1:c.*107C>A (SYNE1) XP_006715488.1:n.*107C>A
XM_011535641.1:c.26440C>A (SYNE1) XP_011533943.1:p.Pro8814Thr
XM_011535642.1:c.26428C>A (SYNE1) XP_011533944.1:p.Pro8810Thr
XM_011535643.1:c.26278C>A (SYNE1) XP_011533945.1:p.Pro8760Thr
XM_011535644.1:c.24718C>A (SYNE1) XP_011533946.1:p.Pro8240Thr
XM_011535645.1:c.24211C>A (SYNE1) XP_011533947.1:p.Pro8071Thr
XM_011535647.1:c.19678C>A (SYNE1) XP_011533949.1:p.Pro6560Thr
NM_001328100.1:c.851-2732G>T (ESR1) NP_001315029.1:n.851-2732G>T
NM_001347701.1:c.*107C>A (SYNE1) NP_001334630.1:n.*107C>A
NM_001347702.1:c.2830C>A (SYNE1) NP_001334631.1:p.Pro944Thr
XM_006715408.2:c.26431C>A (SYNE1) XP_006715471.1:p.Pro8811Thr
XM_006715410.2:c.26401C>A (SYNE1) XP_006715473.1:p.Pro8801Thr
XM_006715412.2:c.26386C>A (SYNE1) XP_006715475.1:p.Pro8796Thr
XM_006715413.2:c.26374C>A (SYNE1) XP_006715476.1:p.Pro8792Thr
XM_006715415.2:c.26332C>A (SYNE1) XP_006715478.1:p.Pro8778Thr
XM_006715416.2:c.26317C>A (SYNE1) XP_006715479.1:p.Pro8773Thr
XM_006715417.2:c.26302C>A (SYNE1) XP_006715480.1:p.Pro8768Thr
XM_006715420.2:c.26290C>A (SYNE1) XP_006715483.1:p.Pro8764Thr
XM_006715421.2:c.26287C>A (SYNE1) XP_006715484.1:p.Pro8763Thr
XM_006715423.2:c.*107C>A (SYNE1) XP_006715486.1:n.*107C>A
XM_006715424.2:c.*107C>A (SYNE1) XP_006715487.1:n.*107C>A
XM_006715425.2:c.*107C>A (SYNE1) XP_006715488.1:n.*107C>A
XM_011535641.2:c.26440C>A (SYNE1) XP_011533943.1:p.Pro8814Thr
XM_011535642.2:c.26428C>A (SYNE1) XP_011533944.1:p.Pro8810Thr
XM_011535645.2:c.24211C>A (SYNE1) XP_011533947.1:p.Pro8071Thr
XM_017010608.1:c.26443C>A (SYNE1) XP_016866097.1:p.Pro8815Thr
XM_017010609.1:c.26443C>A (SYNE1) XP_016866098.1:p.Pro8815Thr
XM_017010610.1:c.26422C>A (SYNE1) XP_016866099.1:p.Pro8808Thr
XM_017010611.2:c.26416C>A (SYNE1) XP_016866100.1:p.Pro8806Thr
XM_017010612.1:c.26365C>A (SYNE1) XP_016866101.1:p.Pro8789Thr
XM_017010613.1:c.26329C>A (SYNE1) XP_016866102.1:p.Pro8777Thr
XM_017010614.1:c.26287C>A (SYNE1) XP_016866103.1:p.Pro8763Thr
XM_017010615.1:c.26176C>A (SYNE1) XP_016866104.1:p.Pro8726Thr
XM_017010616.1:c.*107C>A (SYNE1) XP_016866105.1:n.*107C>A
XM_017010617.1:c.*107C>A (SYNE1) XP_016866106.1:n.*107C>A
XM_017010618.1:c.*107C>A (SYNE1) XP_016866107.1:n.*107C>A
XM_017010619.1:c.24718C>A (SYNE1) XP_016866108.1:p.Pro8240Thr
NM_182961.4:c.26296C>A (SYNE1) MANE Select NP_892006.3:p.Pro8766Thr
NM_001328100.2:c.851-2732G>T (ESR1) NP_001315029.1:n.851-2732G>T
NM_001347701.2:c.*107C>A (SYNE1) NP_001334630.1:n.*107C>A
NM_001347702.2:c.2830C>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Pro944Thr
NM_033071.5:c.26152C>A (SYNE1) NP_149062.2:p.Pro8718Thr