Canonical Allele Identifier: CA349405354

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530067A>T , CM000664.2:g.178530067A>T GRCh38
NC_000002.11:g.179394794A>T , CM000664.1:g.179394794A>T GRCh37
NC_000002.10:g.179103040A>T NCBI36
NG_011618.3:g.305736T>A , LRG_391:g.305736T>A
NG_051363.1:g.12241A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98720T>A (TTN) ENSP00000343764.6:p.Phe32907Tyr
ENST00000342175.11:c.79805T>A (TTN) ENSP00000340554.6:p.Phe26602Tyr
ENST00000359218.10:c.79604T>A (TTN) ENSP00000352154.5:p.Phe26535Tyr
ENST00000342175.10:c.79805T>A (TTN) ENSP00000340554.6:p.Phe26602Tyr
ENST00000342992.10:c.98720T>A (TTN) ENSP00000343764.6:p.Phe32907Tyr
ENST00000359218.9:c.79604T>A (TTN) ENSP00000352154.5:p.Phe26535Tyr
ENST00000460472.6:c.79229T>A (TTN) ENSP00000434586.1:p.Phe26410Tyr
ENST00000589042.5:c.106424T>A (TTN) MANE Select ENSP00000467141.1:p.Phe35475Tyr
ENST00000591111.5:c.101501T>A (TTN) ENSP00000465570.1:p.Phe33834Tyr
ENST00000615779.4:c.101501T>A (TTN) ENSP00000483597.1:p.Phe33834Tyr
NM_001256850.1:c.101501T>A (TTN) NP_001243779.1:p.Phe33834Tyr
NM_001267550.2:c.106424T>A (TTN) MANE Select NP_001254479.2:p.Phe35475Tyr
NM_003319.4:c.79229T>A (TTN) NP_003310.4:p.Phe26410Tyr
NM_133378.4:c.98720T>A (TTN) NP_596869.4:p.Phe32907Tyr
NM_133432.3:c.79604T>A (TTN) NP_597676.3:p.Phe26535Tyr
NM_133437.4:c.79805T>A (TTN) NP_597681.4:p.Phe26602Tyr
NR_038271.1:n.446+6431A>T (TTN-AS1)
NR_038272.1:n.220-5665A>T (TTN-AS1)
XM_011511729.1:c.105521T>A (TTN) XP_011510031.1:p.Phe35174Tyr
XM_011511730.1:c.79415T>A (TTN) XP_011510032.1:p.Phe26472Tyr
XM_011511731.1:c.79274T>A (TTN) XP_011510033.1:p.Phe26425Tyr
XM_017004819.1:c.105317T>A (TTN) XP_016860308.1:p.Phe35106Tyr
XM_017004820.1:c.100715T>A (TTN) XP_016860309.1:p.Phe33572Tyr
XM_017004821.1:c.100712T>A (TTN) XP_016860310.1:p.Phe33571Tyr
XM_017004822.1:c.97754T>A (TTN) XP_016860311.1:p.Phe32585Tyr
XM_017004823.1:c.79370T>A (TTN) XP_016860312.1:p.Phe26457Tyr
XM_024453094.1:c.100865T>A (TTN) XP_024308862.1:p.Phe33622Tyr
XM_024453095.1:c.100862T>A (TTN) XP_024308863.1:p.Phe33621Tyr
XM_024453096.1:c.100295T>A (TTN) XP_024308864.1:p.Phe33432Tyr
XM_024453097.1:c.97637T>A (TTN) XP_024308865.1:p.Phe32546Tyr
XM_024453098.1:c.97556T>A (TTN) XP_024308866.1:p.Phe32519Tyr
XM_024453099.1:c.79319T>A (TTN) XP_024308867.1:p.Phe26440Tyr
XM_024453100.1:c.69173T>A (TTN) XP_024308868.1:p.Phe23058Tyr