Canonical Allele Identifier: CA349470871

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546695T>A , CM000664.2:g.178546695T>A GRCh38
NC_000002.11:g.179411422T>A , CM000664.1:g.179411422T>A GRCh37
NC_000002.10:g.179119668T>A NCBI36
NG_011618.3:g.289108A>T , LRG_391:g.289108A>T
NG_051363.1:g.28869T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87029A>T (TTN) ENSP00000343764.6:p.Asp29010Val
ENST00000342175.11:c.68114A>T (TTN) ENSP00000340554.6:p.Asp22705Val
ENST00000359218.10:c.67913A>T (TTN) ENSP00000352154.5:p.Asp22638Val
ENST00000342175.10:c.68114A>T (TTN) ENSP00000340554.6:p.Asp22705Val
ENST00000342992.10:c.87029A>T (TTN) ENSP00000343764.6:p.Asp29010Val
ENST00000359218.9:c.67913A>T (TTN) ENSP00000352154.5:p.Asp22638Val
ENST00000460472.6:c.67538A>T (TTN) ENSP00000434586.1:p.Asp22513Val
ENST00000589042.5:c.94733A>T (TTN) MANE Select ENSP00000467141.1:p.Asp31578Val
ENST00000591111.5:c.89810A>T (TTN) ENSP00000465570.1:p.Asp29937Val
ENST00000615779.4:c.89810A>T (TTN) ENSP00000483597.1:p.Asp29937Val
NM_001256850.1:c.89810A>T (TTN) NP_001243779.1:p.Asp29937Val
NM_001267550.2:c.94733A>T (TTN) MANE Select NP_001254479.2:p.Asp31578Val
NM_003319.4:c.67538A>T (TTN) NP_003310.4:p.Asp22513Val
NM_133378.4:c.87029A>T (TTN) NP_596869.4:p.Asp29010Val
NM_133432.3:c.67913A>T (TTN) NP_597676.3:p.Asp22638Val
NM_133437.4:c.68114A>T (TTN) NP_597681.4:p.Asp22705Val
NR_038271.1:n.446+23059T>A (TTN-AS1)
NR_038272.1:n.2043+4334T>A (TTN-AS1)
XM_011511729.1:c.93830A>T (TTN) XP_011510031.1:p.Asp31277Val
XM_011511730.1:c.67724A>T (TTN) XP_011510032.1:p.Asp22575Val
XM_011511731.1:c.67583A>T (TTN) XP_011510033.1:p.Asp22528Val
XM_017004819.1:c.93626A>T (TTN) XP_016860308.1:p.Asp31209Val
XM_017004820.1:c.89024A>T (TTN) XP_016860309.1:p.Asp29675Val
XM_017004821.1:c.89021A>T (TTN) XP_016860310.1:p.Asp29674Val
XM_017004822.1:c.86063A>T (TTN) XP_016860311.1:p.Asp28688Val
XM_017004823.1:c.67679A>T (TTN) XP_016860312.1:p.Asp22560Val
XM_024453094.1:c.89174A>T (TTN) XP_024308862.1:p.Asp29725Val
XM_024453095.1:c.89171A>T (TTN) XP_024308863.1:p.Asp29724Val
XM_024453096.1:c.88604A>T (TTN) XP_024308864.1:p.Asp29535Val
XM_024453097.1:c.85946A>T (TTN) XP_024308865.1:p.Asp28649Val
XM_024453098.1:c.85865A>T (TTN) XP_024308866.1:p.Asp28622Val
XM_024453099.1:c.67628A>T (TTN) XP_024308867.1:p.Asp22543Val
XM_024453100.1:c.57482A>T (TTN) XP_024308868.1:p.Asp19161Val