Canonical Allele Identifier: CA349636485

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178572264A>T , CM000664.2:g.178572264A>T GRCh38
NC_000002.11:g.179436991A>T , CM000664.1:g.179436991A>T GRCh37
NC_000002.10:g.179145237A>T NCBI36
NG_011618.3:g.263539T>A , LRG_391:g.263539T>A
NG_051363.1:g.54438A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.66164T>A (TTN) ENSP00000343764.6:p.Ile22055Lys
ENST00000342175.11:c.47249T>A (TTN) ENSP00000340554.6:p.Ile15750Lys
ENST00000359218.10:c.47048T>A (TTN) ENSP00000352154.5:p.Ile15683Lys
ENST00000342175.10:c.47249T>A (TTN) ENSP00000340554.6:p.Ile15750Lys
ENST00000342992.10:c.66164T>A (TTN) ENSP00000343764.6:p.Ile22055Lys
ENST00000359218.9:c.47048T>A (TTN) ENSP00000352154.5:p.Ile15683Lys
ENST00000460472.6:c.46673T>A (TTN) ENSP00000434586.1:p.Ile15558Lys
ENST00000589042.5:c.73868T>A (TTN) MANE Select ENSP00000467141.1:p.Ile24623Lys
ENST00000591111.5:c.68945T>A (TTN) ENSP00000465570.1:p.Ile22982Lys
ENST00000615779.4:c.68945T>A (TTN) ENSP00000483597.1:p.Ile22982Lys
NM_001256850.1:c.68945T>A (TTN) NP_001243779.1:p.Ile22982Lys
NM_001267550.2:c.73868T>A (TTN) MANE Select NP_001254479.2:p.Ile24623Lys
NM_003319.4:c.46673T>A (TTN) NP_003310.4:p.Ile15558Lys
NM_133378.4:c.66164T>A (TTN) NP_596869.4:p.Ile22055Lys
NM_133432.3:c.47048T>A (TTN) NP_597676.3:p.Ile15683Lys
NM_133437.4:c.47249T>A (TTN) NP_597681.4:p.Ile15750Lys
NR_038271.1:n.596+815A>T (TTN-AS1)
NR_038272.1:n.2044-10308A>T (TTN-AS1)
XM_011511729.1:c.72965T>A (TTN) XP_011510031.1:p.Ile24322Lys
XM_011511730.1:c.46859T>A (TTN) XP_011510032.1:p.Ile15620Lys
XM_011511731.1:c.46718T>A (TTN) XP_011510033.1:p.Ile15573Lys
XM_017004819.1:c.72761T>A (TTN) XP_016860308.1:p.Ile24254Lys
XM_017004820.1:c.68159T>A (TTN) XP_016860309.1:p.Ile22720Lys
XM_017004821.1:c.68156T>A (TTN) XP_016860310.1:p.Ile22719Lys
XM_017004822.1:c.65198T>A (TTN) XP_016860311.1:p.Ile21733Lys
XM_017004823.1:c.46814T>A (TTN) XP_016860312.1:p.Ile15605Lys
XM_024453094.1:c.68309T>A (TTN) XP_024308862.1:p.Ile22770Lys
XM_024453095.1:c.68306T>A (TTN) XP_024308863.1:p.Ile22769Lys
XM_024453096.1:c.67739T>A (TTN) XP_024308864.1:p.Ile22580Lys
XM_024453097.1:c.65081T>A (TTN) XP_024308865.1:p.Ile21694Lys
XM_024453098.1:c.65000T>A (TTN) XP_024308866.1:p.Ile21667Lys
XM_024453099.1:c.46763T>A (TTN) XP_024308867.1:p.Ile15588Lys
XM_024453100.1:c.36617T>A (TTN) XP_024308868.1:p.Ile12206Lys