Canonical Allele Identifier: CA349411525

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.96800G>T (TTN) ENSP00000343764.6:p.Arg32267Ile
ENST00000342175.11:c.77885G>T (TTN) ENSP00000340554.6:p.Arg25962Ile
ENST00000359218.10:c.77684G>T (TTN) ENSP00000352154.5:p.Arg25895Ile
ENST00000342175.10:c.77885G>T (TTN) ENSP00000340554.6:p.Arg25962Ile
ENST00000342992.10:c.96800G>T (TTN) ENSP00000343764.6:p.Arg32267Ile
ENST00000359218.9:c.77684G>T (TTN) ENSP00000352154.5:p.Arg25895Ile
ENST00000460472.6:c.77309G>T (TTN) ENSP00000434586.1:p.Arg25770Ile
ENST00000589042.5:c.104504G>T (TTN) MANE Select ENSP00000467141.1:p.Arg34835Ile
ENST00000591111.5:c.99581G>T (TTN) ENSP00000465570.1:p.Arg33194Ile
ENST00000615779.4:c.99581G>T (TTN) ENSP00000483597.1:p.Arg33194Ile
NM_001256850.1:c.99581G>T (TTN) NP_001243779.1:p.Arg33194Ile
NM_001267550.2:c.104504G>T (TTN) MANE Select NP_001254479.2:p.Arg34835Ile
NM_003319.4:c.77309G>T (TTN) NP_003310.4:p.Arg25770Ile
NM_133378.4:c.96800G>T (TTN) NP_596869.4:p.Arg32267Ile
NM_133432.3:c.77684G>T (TTN) NP_597676.3:p.Arg25895Ile
NM_133437.4:c.77885G>T (TTN) NP_597681.4:p.Arg25962Ile
NR_038271.1:n.446+8475C>A (TTN-AS1)
NR_038272.1:n.220-3621C>A (TTN-AS1)
XM_011511729.1:c.103601G>T (TTN) XP_011510031.1:p.Arg34534Ile
XM_011511730.1:c.77495G>T (TTN) XP_011510032.1:p.Arg25832Ile
XM_011511731.1:c.77354G>T (TTN) XP_011510033.1:p.Arg25785Ile
XM_017004819.1:c.103397G>T (TTN) XP_016860308.1:p.Arg34466Ile
XM_017004820.1:c.98795G>T (TTN) XP_016860309.1:p.Arg32932Ile
XM_017004821.1:c.98792G>T (TTN) XP_016860310.1:p.Arg32931Ile
XM_017004822.1:c.95834G>T (TTN) XP_016860311.1:p.Arg31945Ile
XM_017004823.1:c.77450G>T (TTN) XP_016860312.1:p.Arg25817Ile
XM_024453094.1:c.98945G>T (TTN) XP_024308862.1:p.Arg32982Ile
XM_024453095.1:c.98942G>T (TTN) XP_024308863.1:p.Arg32981Ile
XM_024453096.1:c.98375G>T (TTN) XP_024308864.1:p.Arg32792Ile
XM_024453097.1:c.95717G>T (TTN) XP_024308865.1:p.Arg31906Ile
XM_024453098.1:c.95636G>T (TTN) XP_024308866.1:p.Arg31879Ile
XM_024453099.1:c.77399G>T (TTN) XP_024308867.1:p.Arg25800Ile
XM_024453100.1:c.67253G>T (TTN) XP_024308868.1:p.Arg22418Ile