Canonical Allele Identifier: CA349454156

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544085A>T , CM000664.2:g.178544085A>T GRCh38
NC_000002.11:g.179408812A>T , CM000664.1:g.179408812A>T GRCh37
NC_000002.10:g.179117058A>T NCBI36
NG_011618.3:g.291718T>A , LRG_391:g.291718T>A
NG_051363.1:g.26259A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88355T>A (TTN) ENSP00000343764.6:p.Leu29452Gln
ENST00000342175.11:c.69440T>A (TTN) ENSP00000340554.6:p.Leu23147Gln
ENST00000359218.10:c.69239T>A (TTN) ENSP00000352154.5:p.Leu23080Gln
ENST00000342175.10:c.69440T>A (TTN) ENSP00000340554.6:p.Leu23147Gln
ENST00000342992.10:c.88355T>A (TTN) ENSP00000343764.6:p.Leu29452Gln
ENST00000359218.9:c.69239T>A (TTN) ENSP00000352154.5:p.Leu23080Gln
ENST00000460472.6:c.68864T>A (TTN) ENSP00000434586.1:p.Leu22955Gln
ENST00000589042.5:c.96059T>A (TTN) MANE Select ENSP00000467141.1:p.Leu32020Gln
ENST00000591111.5:c.91136T>A (TTN) ENSP00000465570.1:p.Leu30379Gln
ENST00000615779.4:c.91136T>A (TTN) ENSP00000483597.1:p.Leu30379Gln
NM_001256850.1:c.91136T>A (TTN) NP_001243779.1:p.Leu30379Gln
NM_001267550.2:c.96059T>A (TTN) MANE Select NP_001254479.2:p.Leu32020Gln
NM_003319.4:c.68864T>A (TTN) NP_003310.4:p.Leu22955Gln
NM_133378.4:c.88355T>A (TTN) NP_596869.4:p.Leu29452Gln
NM_133432.3:c.69239T>A (TTN) NP_597676.3:p.Leu23080Gln
NM_133437.4:c.69440T>A (TTN) NP_597681.4:p.Leu23147Gln
NR_038271.1:n.446+20449A>T (TTN-AS1)
NR_038272.1:n.2043+1724A>T (TTN-AS1)
XM_011511729.1:c.95156T>A (TTN) XP_011510031.1:p.Leu31719Gln
XM_011511730.1:c.69050T>A (TTN) XP_011510032.1:p.Leu23017Gln
XM_011511731.1:c.68909T>A (TTN) XP_011510033.1:p.Leu22970Gln
XM_017004819.1:c.94952T>A (TTN) XP_016860308.1:p.Leu31651Gln
XM_017004820.1:c.90350T>A (TTN) XP_016860309.1:p.Leu30117Gln
XM_017004821.1:c.90347T>A (TTN) XP_016860310.1:p.Leu30116Gln
XM_017004822.1:c.87389T>A (TTN) XP_016860311.1:p.Leu29130Gln
XM_017004823.1:c.69005T>A (TTN) XP_016860312.1:p.Leu23002Gln
XM_024453094.1:c.90500T>A (TTN) XP_024308862.1:p.Leu30167Gln
XM_024453095.1:c.90497T>A (TTN) XP_024308863.1:p.Leu30166Gln
XM_024453096.1:c.89930T>A (TTN) XP_024308864.1:p.Leu29977Gln
XM_024453097.1:c.87272T>A (TTN) XP_024308865.1:p.Leu29091Gln
XM_024453098.1:c.87191T>A (TTN) XP_024308866.1:p.Leu29064Gln
XM_024453099.1:c.68954T>A (TTN) XP_024308867.1:p.Leu22985Gln
XM_024453100.1:c.58808T>A (TTN) XP_024308868.1:p.Leu19603Gln