Canonical Allele Identifier: CA349405273

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530055A>T , CM000664.2:g.178530055A>T GRCh38
NC_000002.11:g.179394782A>T , CM000664.1:g.179394782A>T GRCh37
NC_000002.10:g.179103028A>T NCBI36
NG_011618.3:g.305748T>A , LRG_391:g.305748T>A
NG_051363.1:g.12229A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98732T>A (TTN) ENSP00000343764.6:p.Ile32911Asn
ENST00000342175.11:c.79817T>A (TTN) ENSP00000340554.6:p.Ile26606Asn
ENST00000359218.10:c.79616T>A (TTN) ENSP00000352154.5:p.Ile26539Asn
ENST00000342175.10:c.79817T>A (TTN) ENSP00000340554.6:p.Ile26606Asn
ENST00000342992.10:c.98732T>A (TTN) ENSP00000343764.6:p.Ile32911Asn
ENST00000359218.9:c.79616T>A (TTN) ENSP00000352154.5:p.Ile26539Asn
ENST00000460472.6:c.79241T>A (TTN) ENSP00000434586.1:p.Ile26414Asn
ENST00000589042.5:c.106436T>A (TTN) MANE Select ENSP00000467141.1:p.Ile35479Asn
ENST00000591111.5:c.101513T>A (TTN) ENSP00000465570.1:p.Ile33838Asn
ENST00000615779.4:c.101513T>A (TTN) ENSP00000483597.1:p.Ile33838Asn
NM_001256850.1:c.101513T>A (TTN) NP_001243779.1:p.Ile33838Asn
NM_001267550.2:c.106436T>A (TTN) MANE Select NP_001254479.2:p.Ile35479Asn
NM_003319.4:c.79241T>A (TTN) NP_003310.4:p.Ile26414Asn
NM_133378.4:c.98732T>A (TTN) NP_596869.4:p.Ile32911Asn
NM_133432.3:c.79616T>A (TTN) NP_597676.3:p.Ile26539Asn
NM_133437.4:c.79817T>A (TTN) NP_597681.4:p.Ile26606Asn
NR_038271.1:n.446+6419A>T (TTN-AS1)
NR_038272.1:n.220-5677A>T (TTN-AS1)
XM_011511729.1:c.105533T>A (TTN) XP_011510031.1:p.Ile35178Asn
XM_011511730.1:c.79427T>A (TTN) XP_011510032.1:p.Ile26476Asn
XM_011511731.1:c.79286T>A (TTN) XP_011510033.1:p.Ile26429Asn
XM_017004819.1:c.105329T>A (TTN) XP_016860308.1:p.Ile35110Asn
XM_017004820.1:c.100727T>A (TTN) XP_016860309.1:p.Ile33576Asn
XM_017004821.1:c.100724T>A (TTN) XP_016860310.1:p.Ile33575Asn
XM_017004822.1:c.97766T>A (TTN) XP_016860311.1:p.Ile32589Asn
XM_017004823.1:c.79382T>A (TTN) XP_016860312.1:p.Ile26461Asn
XM_024453094.1:c.100877T>A (TTN) XP_024308862.1:p.Ile33626Asn
XM_024453095.1:c.100874T>A (TTN) XP_024308863.1:p.Ile33625Asn
XM_024453096.1:c.100307T>A (TTN) XP_024308864.1:p.Ile33436Asn
XM_024453097.1:c.97649T>A (TTN) XP_024308865.1:p.Ile32550Asn
XM_024453098.1:c.97568T>A (TTN) XP_024308866.1:p.Ile32523Asn
XM_024453099.1:c.79331T>A (TTN) XP_024308867.1:p.Ile26444Asn
XM_024453100.1:c.69185T>A (TTN) XP_024308868.1:p.Ile23062Asn