Canonical Allele Identifier: CA349411654

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532147T>G , CM000664.2:g.178532147T>G GRCh38
NC_000002.11:g.179396874T>G , CM000664.1:g.179396874T>G GRCh37
NC_000002.10:g.179105120T>G NCBI36
NG_011618.3:g.303656A>C , LRG_391:g.303656A>C
NG_051363.1:g.14321T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96764A>C (TTN) ENSP00000343764.6:p.Lys32255Thr
ENST00000342175.11:c.77849A>C (TTN) ENSP00000340554.6:p.Lys25950Thr
ENST00000359218.10:c.77648A>C (TTN) ENSP00000352154.5:p.Lys25883Thr
ENST00000342175.10:c.77849A>C (TTN) ENSP00000340554.6:p.Lys25950Thr
ENST00000342992.10:c.96764A>C (TTN) ENSP00000343764.6:p.Lys32255Thr
ENST00000359218.9:c.77648A>C (TTN) ENSP00000352154.5:p.Lys25883Thr
ENST00000460472.6:c.77273A>C (TTN) ENSP00000434586.1:p.Lys25758Thr
ENST00000589042.5:c.104468A>C (TTN) MANE Select ENSP00000467141.1:p.Lys34823Thr
ENST00000591111.5:c.99545A>C (TTN) ENSP00000465570.1:p.Lys33182Thr
ENST00000615779.4:c.99545A>C (TTN) ENSP00000483597.1:p.Lys33182Thr
NM_001256850.1:c.99545A>C (TTN) NP_001243779.1:p.Lys33182Thr
NM_001267550.2:c.104468A>C (TTN) MANE Select NP_001254479.2:p.Lys34823Thr
NM_003319.4:c.77273A>C (TTN) NP_003310.4:p.Lys25758Thr
NM_133378.4:c.96764A>C (TTN) NP_596869.4:p.Lys32255Thr
NM_133432.3:c.77648A>C (TTN) NP_597676.3:p.Lys25883Thr
NM_133437.4:c.77849A>C (TTN) NP_597681.4:p.Lys25950Thr
NR_038271.1:n.446+8511T>G (TTN-AS1)
NR_038272.1:n.220-3585T>G (TTN-AS1)
XM_011511729.1:c.103565A>C (TTN) XP_011510031.1:p.Lys34522Thr
XM_011511730.1:c.77459A>C (TTN) XP_011510032.1:p.Lys25820Thr
XM_011511731.1:c.77318A>C (TTN) XP_011510033.1:p.Lys25773Thr
XM_017004819.1:c.103361A>C (TTN) XP_016860308.1:p.Lys34454Thr
XM_017004820.1:c.98759A>C (TTN) XP_016860309.1:p.Lys32920Thr
XM_017004821.1:c.98756A>C (TTN) XP_016860310.1:p.Lys32919Thr
XM_017004822.1:c.95798A>C (TTN) XP_016860311.1:p.Lys31933Thr
XM_017004823.1:c.77414A>C (TTN) XP_016860312.1:p.Lys25805Thr
XM_024453094.1:c.98909A>C (TTN) XP_024308862.1:p.Lys32970Thr
XM_024453095.1:c.98906A>C (TTN) XP_024308863.1:p.Lys32969Thr
XM_024453096.1:c.98339A>C (TTN) XP_024308864.1:p.Lys32780Thr
XM_024453097.1:c.95681A>C (TTN) XP_024308865.1:p.Lys31894Thr
XM_024453098.1:c.95600A>C (TTN) XP_024308866.1:p.Lys31867Thr
XM_024453099.1:c.77363A>C (TTN) XP_024308867.1:p.Lys25788Thr
XM_024453100.1:c.67217A>C (TTN) XP_024308868.1:p.Lys22406Thr