Canonical Allele Identifier: CA349406676

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530422T>C , CM000664.2:g.178530422T>C GRCh38
NC_000002.11:g.179395149T>C , CM000664.1:g.179395149T>C GRCh37
NC_000002.10:g.179103395T>C NCBI36
NG_011618.3:g.305381A>G , LRG_391:g.305381A>G
NG_051363.1:g.12596T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98489A>G (TTN) ENSP00000343764.6:p.Lys32830Arg
ENST00000342175.11:c.79574A>G (TTN) ENSP00000340554.6:p.Lys26525Arg
ENST00000359218.10:c.79373A>G (TTN) ENSP00000352154.5:p.Lys26458Arg
ENST00000342175.10:c.79574A>G (TTN) ENSP00000340554.6:p.Lys26525Arg
ENST00000342992.10:c.98489A>G (TTN) ENSP00000343764.6:p.Lys32830Arg
ENST00000359218.9:c.79373A>G (TTN) ENSP00000352154.5:p.Lys26458Arg
ENST00000460472.6:c.78998A>G (TTN) ENSP00000434586.1:p.Lys26333Arg
ENST00000589042.5:c.106193A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35398Arg
ENST00000591111.5:c.101270A>G (TTN) ENSP00000465570.1:p.Lys33757Arg
ENST00000615779.4:c.101270A>G (TTN) ENSP00000483597.1:p.Lys33757Arg
NM_001256850.1:c.101270A>G (TTN) NP_001243779.1:p.Lys33757Arg
NM_001267550.2:c.106193A>G (TTN) MANE Select NP_001254479.2:p.Lys35398Arg
NM_003319.4:c.78998A>G (TTN) NP_003310.4:p.Lys26333Arg
NM_133378.4:c.98489A>G (TTN) NP_596869.4:p.Lys32830Arg
NM_133432.3:c.79373A>G (TTN) NP_597676.3:p.Lys26458Arg
NM_133437.4:c.79574A>G (TTN) NP_597681.4:p.Lys26525Arg
NR_038271.1:n.446+6786T>C (TTN-AS1)
NR_038272.1:n.220-5310T>C (TTN-AS1)
XM_011511729.1:c.105290A>G (TTN) XP_011510031.1:p.Lys35097Arg
XM_011511730.1:c.79184A>G (TTN) XP_011510032.1:p.Lys26395Arg
XM_011511731.1:c.79043A>G (TTN) XP_011510033.1:p.Lys26348Arg
XM_017004819.1:c.105086A>G (TTN) XP_016860308.1:p.Lys35029Arg
XM_017004820.1:c.100484A>G (TTN) XP_016860309.1:p.Lys33495Arg
XM_017004821.1:c.100481A>G (TTN) XP_016860310.1:p.Lys33494Arg
XM_017004822.1:c.97523A>G (TTN) XP_016860311.1:p.Lys32508Arg
XM_017004823.1:c.79139A>G (TTN) XP_016860312.1:p.Lys26380Arg
XM_024453094.1:c.100634A>G (TTN) XP_024308862.1:p.Lys33545Arg
XM_024453095.1:c.100631A>G (TTN) XP_024308863.1:p.Lys33544Arg
XM_024453096.1:c.100064A>G (TTN) XP_024308864.1:p.Lys33355Arg
XM_024453097.1:c.97406A>G (TTN) XP_024308865.1:p.Lys32469Arg
XM_024453098.1:c.97325A>G (TTN) XP_024308866.1:p.Lys32442Arg
XM_024453099.1:c.79088A>G (TTN) XP_024308867.1:p.Lys26363Arg
XM_024453100.1:c.68942A>G (TTN) XP_024308868.1:p.Lys22981Arg