Canonical Allele Identifier: CA349411819

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532216C>T , CM000664.2:g.178532216C>T GRCh38
NC_000002.11:g.179396943C>T , CM000664.1:g.179396943C>T GRCh37
NC_000002.10:g.179105189C>T NCBI36
NG_011618.3:g.303587G>A , LRG_391:g.303587G>A
NG_051363.1:g.14390C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96695G>A (TTN) ENSP00000343764.6:p.Arg32232Lys
ENST00000342175.11:c.77780G>A (TTN) ENSP00000340554.6:p.Arg25927Lys
ENST00000359218.10:c.77579G>A (TTN) ENSP00000352154.5:p.Arg25860Lys
ENST00000342175.10:c.77780G>A (TTN) ENSP00000340554.6:p.Arg25927Lys
ENST00000342992.10:c.96695G>A (TTN) ENSP00000343764.6:p.Arg32232Lys
ENST00000359218.9:c.77579G>A (TTN) ENSP00000352154.5:p.Arg25860Lys
ENST00000460472.6:c.77204G>A (TTN) ENSP00000434586.1:p.Arg25735Lys
ENST00000589042.5:c.104399G>A (TTN) MANE Select ENSP00000467141.1:p.Arg34800Lys
ENST00000591111.5:c.99476G>A (TTN) ENSP00000465570.1:p.Arg33159Lys
ENST00000615779.4:c.99476G>A (TTN) ENSP00000483597.1:p.Arg33159Lys
NM_001256850.1:c.99476G>A (TTN) NP_001243779.1:p.Arg33159Lys
NM_001267550.2:c.104399G>A (TTN) MANE Select NP_001254479.2:p.Arg34800Lys
NM_003319.4:c.77204G>A (TTN) NP_003310.4:p.Arg25735Lys
NM_133378.4:c.96695G>A (TTN) NP_596869.4:p.Arg32232Lys
NM_133432.3:c.77579G>A (TTN) NP_597676.3:p.Arg25860Lys
NM_133437.4:c.77780G>A (TTN) NP_597681.4:p.Arg25927Lys
NR_038271.1:n.446+8580C>T (TTN-AS1)
NR_038272.1:n.220-3516C>T (TTN-AS1)
XM_011511729.1:c.103496G>A (TTN) XP_011510031.1:p.Arg34499Lys
XM_011511730.1:c.77390G>A (TTN) XP_011510032.1:p.Arg25797Lys
XM_011511731.1:c.77249G>A (TTN) XP_011510033.1:p.Arg25750Lys
XM_017004819.1:c.103292G>A (TTN) XP_016860308.1:p.Arg34431Lys
XM_017004820.1:c.98690G>A (TTN) XP_016860309.1:p.Arg32897Lys
XM_017004821.1:c.98687G>A (TTN) XP_016860310.1:p.Arg32896Lys
XM_017004822.1:c.95729G>A (TTN) XP_016860311.1:p.Arg31910Lys
XM_017004823.1:c.77345G>A (TTN) XP_016860312.1:p.Arg25782Lys
XM_024453094.1:c.98840G>A (TTN) XP_024308862.1:p.Arg32947Lys
XM_024453095.1:c.98837G>A (TTN) XP_024308863.1:p.Arg32946Lys
XM_024453096.1:c.98270G>A (TTN) XP_024308864.1:p.Arg32757Lys
XM_024453097.1:c.95612G>A (TTN) XP_024308865.1:p.Arg31871Lys
XM_024453098.1:c.95531G>A (TTN) XP_024308866.1:p.Arg31844Lys
XM_024453099.1:c.77294G>A (TTN) XP_024308867.1:p.Arg25765Lys
XM_024453100.1:c.67148G>A (TTN) XP_024308868.1:p.Arg22383Lys