Canonical Allele Identifier: CA349411528

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532111C>T , CM000664.2:g.178532111C>T GRCh38
NC_000002.11:g.179396838C>T , CM000664.1:g.179396838C>T GRCh37
NC_000002.10:g.179105084C>T NCBI36
NG_011618.3:g.303692G>A , LRG_391:g.303692G>A
NG_051363.1:g.14285C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96800G>A (TTN) ENSP00000343764.6:p.Arg32267Lys
ENST00000342175.11:c.77885G>A (TTN) ENSP00000340554.6:p.Arg25962Lys
ENST00000359218.10:c.77684G>A (TTN) ENSP00000352154.5:p.Arg25895Lys
ENST00000342175.10:c.77885G>A (TTN) ENSP00000340554.6:p.Arg25962Lys
ENST00000342992.10:c.96800G>A (TTN) ENSP00000343764.6:p.Arg32267Lys
ENST00000359218.9:c.77684G>A (TTN) ENSP00000352154.5:p.Arg25895Lys
ENST00000460472.6:c.77309G>A (TTN) ENSP00000434586.1:p.Arg25770Lys
ENST00000589042.5:c.104504G>A (TTN) MANE Select ENSP00000467141.1:p.Arg34835Lys
ENST00000591111.5:c.99581G>A (TTN) ENSP00000465570.1:p.Arg33194Lys
ENST00000615779.4:c.99581G>A (TTN) ENSP00000483597.1:p.Arg33194Lys
NM_001256850.1:c.99581G>A (TTN) NP_001243779.1:p.Arg33194Lys
NM_001267550.2:c.104504G>A (TTN) MANE Select NP_001254479.2:p.Arg34835Lys
NM_003319.4:c.77309G>A (TTN) NP_003310.4:p.Arg25770Lys
NM_133378.4:c.96800G>A (TTN) NP_596869.4:p.Arg32267Lys
NM_133432.3:c.77684G>A (TTN) NP_597676.3:p.Arg25895Lys
NM_133437.4:c.77885G>A (TTN) NP_597681.4:p.Arg25962Lys
NR_038271.1:n.446+8475C>T (TTN-AS1)
NR_038272.1:n.220-3621C>T (TTN-AS1)
XM_011511729.1:c.103601G>A (TTN) XP_011510031.1:p.Arg34534Lys
XM_011511730.1:c.77495G>A (TTN) XP_011510032.1:p.Arg25832Lys
XM_011511731.1:c.77354G>A (TTN) XP_011510033.1:p.Arg25785Lys
XM_017004819.1:c.103397G>A (TTN) XP_016860308.1:p.Arg34466Lys
XM_017004820.1:c.98795G>A (TTN) XP_016860309.1:p.Arg32932Lys
XM_017004821.1:c.98792G>A (TTN) XP_016860310.1:p.Arg32931Lys
XM_017004822.1:c.95834G>A (TTN) XP_016860311.1:p.Arg31945Lys
XM_017004823.1:c.77450G>A (TTN) XP_016860312.1:p.Arg25817Lys
XM_024453094.1:c.98945G>A (TTN) XP_024308862.1:p.Arg32982Lys
XM_024453095.1:c.98942G>A (TTN) XP_024308863.1:p.Arg32981Lys
XM_024453096.1:c.98375G>A (TTN) XP_024308864.1:p.Arg32792Lys
XM_024453097.1:c.95717G>A (TTN) XP_024308865.1:p.Arg31906Lys
XM_024453098.1:c.95636G>A (TTN) XP_024308866.1:p.Arg31879Lys
XM_024453099.1:c.77399G>A (TTN) XP_024308867.1:p.Arg25800Lys
XM_024453100.1:c.67253G>A (TTN) XP_024308868.1:p.Arg22418Lys