Canonical Allele Identifier: CA349406893

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530462T>G , CM000664.2:g.178530462T>G GRCh38
NC_000002.11:g.179395189T>G , CM000664.1:g.179395189T>G GRCh37
NC_000002.10:g.179103435T>G NCBI36
NG_011618.3:g.305341A>C , LRG_391:g.305341A>C
NG_051363.1:g.12636T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98449A>C (TTN) ENSP00000343764.6:p.Lys32817Gln
ENST00000342175.11:c.79534A>C (TTN) ENSP00000340554.6:p.Lys26512Gln
ENST00000359218.10:c.79333A>C (TTN) ENSP00000352154.5:p.Lys26445Gln
ENST00000342175.10:c.79534A>C (TTN) ENSP00000340554.6:p.Lys26512Gln
ENST00000342992.10:c.98449A>C (TTN) ENSP00000343764.6:p.Lys32817Gln
ENST00000359218.9:c.79333A>C (TTN) ENSP00000352154.5:p.Lys26445Gln
ENST00000460472.6:c.78958A>C (TTN) ENSP00000434586.1:p.Lys26320Gln
ENST00000589042.5:c.106153A>C (TTN) MANE Select ENSP00000467141.1:p.Lys35385Gln
ENST00000591111.5:c.101230A>C (TTN) ENSP00000465570.1:p.Lys33744Gln
ENST00000615779.4:c.101230A>C (TTN) ENSP00000483597.1:p.Lys33744Gln
NM_001256850.1:c.101230A>C (TTN) NP_001243779.1:p.Lys33744Gln
NM_001267550.2:c.106153A>C (TTN) MANE Select NP_001254479.2:p.Lys35385Gln
NM_003319.4:c.78958A>C (TTN) NP_003310.4:p.Lys26320Gln
NM_133378.4:c.98449A>C (TTN) NP_596869.4:p.Lys32817Gln
NM_133432.3:c.79333A>C (TTN) NP_597676.3:p.Lys26445Gln
NM_133437.4:c.79534A>C (TTN) NP_597681.4:p.Lys26512Gln
NR_038271.1:n.446+6826T>G (TTN-AS1)
NR_038272.1:n.220-5270T>G (TTN-AS1)
XM_011511729.1:c.105250A>C (TTN) XP_011510031.1:p.Lys35084Gln
XM_011511730.1:c.79144A>C (TTN) XP_011510032.1:p.Lys26382Gln
XM_011511731.1:c.79003A>C (TTN) XP_011510033.1:p.Lys26335Gln
XM_017004819.1:c.105046A>C (TTN) XP_016860308.1:p.Lys35016Gln
XM_017004820.1:c.100444A>C (TTN) XP_016860309.1:p.Lys33482Gln
XM_017004821.1:c.100441A>C (TTN) XP_016860310.1:p.Lys33481Gln
XM_017004822.1:c.97483A>C (TTN) XP_016860311.1:p.Lys32495Gln
XM_017004823.1:c.79099A>C (TTN) XP_016860312.1:p.Lys26367Gln
XM_024453094.1:c.100594A>C (TTN) XP_024308862.1:p.Lys33532Gln
XM_024453095.1:c.100591A>C (TTN) XP_024308863.1:p.Lys33531Gln
XM_024453096.1:c.100024A>C (TTN) XP_024308864.1:p.Lys33342Gln
XM_024453097.1:c.97366A>C (TTN) XP_024308865.1:p.Lys32456Gln
XM_024453098.1:c.97285A>C (TTN) XP_024308866.1:p.Lys32429Gln
XM_024453099.1:c.79048A>C (TTN) XP_024308867.1:p.Lys26350Gln
XM_024453100.1:c.68902A>C (TTN) XP_024308868.1:p.Lys22968Gln