Canonical Allele Identifier: CA349406171

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530303T>A , CM000664.2:g.178530303T>A GRCh38
NC_000002.11:g.179395030T>A , CM000664.1:g.179395030T>A GRCh37
NC_000002.10:g.179103276T>A NCBI36
NG_011618.3:g.305500A>T , LRG_391:g.305500A>T
NG_051363.1:g.12477T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98608A>T (TTN) ENSP00000343764.6:p.Lys32870Ter
ENST00000342175.11:c.79693A>T (TTN) ENSP00000340554.6:p.Lys26565Ter
ENST00000359218.10:c.79492A>T (TTN) ENSP00000352154.5:p.Lys26498Ter
ENST00000342175.10:c.79693A>T (TTN) ENSP00000340554.6:p.Lys26565Ter
ENST00000342992.10:c.98608A>T (TTN) ENSP00000343764.6:p.Lys32870Ter
ENST00000359218.9:c.79492A>T (TTN) ENSP00000352154.5:p.Lys26498Ter
ENST00000460472.6:c.79117A>T (TTN) ENSP00000434586.1:p.Lys26373Ter
ENST00000589042.5:c.106312A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35438Ter
ENST00000591111.5:c.101389A>T (TTN) ENSP00000465570.1:p.Lys33797Ter
ENST00000615779.4:c.101389A>T (TTN) ENSP00000483597.1:p.Lys33797Ter
NM_001256850.1:c.101389A>T (TTN) NP_001243779.1:p.Lys33797Ter
NM_001267550.2:c.106312A>T (TTN) MANE Select NP_001254479.2:p.Lys35438Ter
NM_003319.4:c.79117A>T (TTN) NP_003310.4:p.Lys26373Ter
NM_133378.4:c.98608A>T (TTN) NP_596869.4:p.Lys32870Ter
NM_133432.3:c.79492A>T (TTN) NP_597676.3:p.Lys26498Ter
NM_133437.4:c.79693A>T (TTN) NP_597681.4:p.Lys26565Ter
NR_038271.1:n.446+6667T>A (TTN-AS1)
NR_038272.1:n.220-5429T>A (TTN-AS1)
XM_011511729.1:c.105409A>T (TTN) XP_011510031.1:p.Lys35137Ter
XM_011511730.1:c.79303A>T (TTN) XP_011510032.1:p.Lys26435Ter
XM_011511731.1:c.79162A>T (TTN) XP_011510033.1:p.Lys26388Ter
XM_017004819.1:c.105205A>T (TTN) XP_016860308.1:p.Lys35069Ter
XM_017004820.1:c.100603A>T (TTN) XP_016860309.1:p.Lys33535Ter
XM_017004821.1:c.100600A>T (TTN) XP_016860310.1:p.Lys33534Ter
XM_017004822.1:c.97642A>T (TTN) XP_016860311.1:p.Lys32548Ter
XM_017004823.1:c.79258A>T (TTN) XP_016860312.1:p.Lys26420Ter
XM_024453094.1:c.100753A>T (TTN) XP_024308862.1:p.Lys33585Ter
XM_024453095.1:c.100750A>T (TTN) XP_024308863.1:p.Lys33584Ter
XM_024453096.1:c.100183A>T (TTN) XP_024308864.1:p.Lys33395Ter
XM_024453097.1:c.97525A>T (TTN) XP_024308865.1:p.Lys32509Ter
XM_024453098.1:c.97444A>T (TTN) XP_024308866.1:p.Lys32482Ter
XM_024453099.1:c.79207A>T (TTN) XP_024308867.1:p.Lys26403Ter
XM_024453100.1:c.69061A>T (TTN) XP_024308868.1:p.Lys23021Ter