Canonical Allele Identifier: CA349502743

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551662G>T , CM000664.2:g.178551662G>T GRCh38
NC_000002.11:g.179416389G>T , CM000664.1:g.179416389G>T GRCh37
NC_000002.10:g.179124635G>T NCBI36
NG_011618.3:g.284141C>A , LRG_391:g.284141C>A
NG_051363.1:g.33836G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83534C>A (TTN) ENSP00000343764.6:p.Pro27845Gln
ENST00000342175.11:c.64619C>A (TTN) ENSP00000340554.6:p.Pro21540Gln
ENST00000359218.10:c.64418C>A (TTN) ENSP00000352154.5:p.Pro21473Gln
ENST00000342175.10:c.64619C>A (TTN) ENSP00000340554.6:p.Pro21540Gln
ENST00000342992.10:c.83534C>A (TTN) ENSP00000343764.6:p.Pro27845Gln
ENST00000359218.9:c.64418C>A (TTN) ENSP00000352154.5:p.Pro21473Gln
ENST00000460472.6:c.64043C>A (TTN) ENSP00000434586.1:p.Pro21348Gln
ENST00000589042.5:c.91238C>A (TTN) MANE Select ENSP00000467141.1:p.Pro30413Gln
ENST00000591111.5:c.86315C>A (TTN) ENSP00000465570.1:p.Pro28772Gln
ENST00000615779.4:c.86315C>A (TTN) ENSP00000483597.1:p.Pro28772Gln
NM_001256850.1:c.86315C>A (TTN) NP_001243779.1:p.Pro28772Gln
NM_001267550.2:c.91238C>A (TTN) MANE Select NP_001254479.2:p.Pro30413Gln
NM_003319.4:c.64043C>A (TTN) NP_003310.4:p.Pro21348Gln
NM_133378.4:c.83534C>A (TTN) NP_596869.4:p.Pro27845Gln
NM_133432.3:c.64418C>A (TTN) NP_597676.3:p.Pro21473Gln
NM_133437.4:c.64619C>A (TTN) NP_597681.4:p.Pro21540Gln
NR_038271.1:n.447-19638G>T (TTN-AS1)
NR_038272.1:n.2043+9301G>T (TTN-AS1)
XM_011511729.1:c.90335C>A (TTN) XP_011510031.1:p.Pro30112Gln
XM_011511730.1:c.64229C>A (TTN) XP_011510032.1:p.Pro21410Gln
XM_011511731.1:c.64088C>A (TTN) XP_011510033.1:p.Pro21363Gln
XM_017004819.1:c.90131C>A (TTN) XP_016860308.1:p.Pro30044Gln
XM_017004820.1:c.85529C>A (TTN) XP_016860309.1:p.Pro28510Gln
XM_017004821.1:c.85526C>A (TTN) XP_016860310.1:p.Pro28509Gln
XM_017004822.1:c.82568C>A (TTN) XP_016860311.1:p.Pro27523Gln
XM_017004823.1:c.64184C>A (TTN) XP_016860312.1:p.Pro21395Gln
XM_024453094.1:c.85679C>A (TTN) XP_024308862.1:p.Pro28560Gln
XM_024453095.1:c.85676C>A (TTN) XP_024308863.1:p.Pro28559Gln
XM_024453096.1:c.85109C>A (TTN) XP_024308864.1:p.Pro28370Gln
XM_024453097.1:c.82451C>A (TTN) XP_024308865.1:p.Pro27484Gln
XM_024453098.1:c.82370C>A (TTN) XP_024308866.1:p.Pro27457Gln
XM_024453099.1:c.64133C>A (TTN) XP_024308867.1:p.Pro21378Gln
XM_024453100.1:c.53987C>A (TTN) XP_024308868.1:p.Pro17996Gln