Canonical Allele Identifier: CA349405278

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530056T>A , CM000664.2:g.178530056T>A GRCh38
NC_000002.11:g.179394783T>A , CM000664.1:g.179394783T>A GRCh37
NC_000002.10:g.179103029T>A NCBI36
NG_011618.3:g.305747A>T , LRG_391:g.305747A>T
NG_051363.1:g.12230T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98731A>T (TTN) ENSP00000343764.6:p.Ile32911Phe
ENST00000342175.11:c.79816A>T (TTN) ENSP00000340554.6:p.Ile26606Phe
ENST00000359218.10:c.79615A>T (TTN) ENSP00000352154.5:p.Ile26539Phe
ENST00000342175.10:c.79816A>T (TTN) ENSP00000340554.6:p.Ile26606Phe
ENST00000342992.10:c.98731A>T (TTN) ENSP00000343764.6:p.Ile32911Phe
ENST00000359218.9:c.79615A>T (TTN) ENSP00000352154.5:p.Ile26539Phe
ENST00000460472.6:c.79240A>T (TTN) ENSP00000434586.1:p.Ile26414Phe
ENST00000589042.5:c.106435A>T (TTN) MANE Select ENSP00000467141.1:p.Ile35479Phe
ENST00000591111.5:c.101512A>T (TTN) ENSP00000465570.1:p.Ile33838Phe
ENST00000615779.4:c.101512A>T (TTN) ENSP00000483597.1:p.Ile33838Phe
NM_001256850.1:c.101512A>T (TTN) NP_001243779.1:p.Ile33838Phe
NM_001267550.2:c.106435A>T (TTN) MANE Select NP_001254479.2:p.Ile35479Phe
NM_003319.4:c.79240A>T (TTN) NP_003310.4:p.Ile26414Phe
NM_133378.4:c.98731A>T (TTN) NP_596869.4:p.Ile32911Phe
NM_133432.3:c.79615A>T (TTN) NP_597676.3:p.Ile26539Phe
NM_133437.4:c.79816A>T (TTN) NP_597681.4:p.Ile26606Phe
NR_038271.1:n.446+6420T>A (TTN-AS1)
NR_038272.1:n.220-5676T>A (TTN-AS1)
XM_011511729.1:c.105532A>T (TTN) XP_011510031.1:p.Ile35178Phe
XM_011511730.1:c.79426A>T (TTN) XP_011510032.1:p.Ile26476Phe
XM_011511731.1:c.79285A>T (TTN) XP_011510033.1:p.Ile26429Phe
XM_017004819.1:c.105328A>T (TTN) XP_016860308.1:p.Ile35110Phe
XM_017004820.1:c.100726A>T (TTN) XP_016860309.1:p.Ile33576Phe
XM_017004821.1:c.100723A>T (TTN) XP_016860310.1:p.Ile33575Phe
XM_017004822.1:c.97765A>T (TTN) XP_016860311.1:p.Ile32589Phe
XM_017004823.1:c.79381A>T (TTN) XP_016860312.1:p.Ile26461Phe
XM_024453094.1:c.100876A>T (TTN) XP_024308862.1:p.Ile33626Phe
XM_024453095.1:c.100873A>T (TTN) XP_024308863.1:p.Ile33625Phe
XM_024453096.1:c.100306A>T (TTN) XP_024308864.1:p.Ile33436Phe
XM_024453097.1:c.97648A>T (TTN) XP_024308865.1:p.Ile32550Phe
XM_024453098.1:c.97567A>T (TTN) XP_024308866.1:p.Ile32523Phe
XM_024453099.1:c.79330A>T (TTN) XP_024308867.1:p.Ile26444Phe
XM_024453100.1:c.69184A>T (TTN) XP_024308868.1:p.Ile23062Phe