Canonical Allele Identifier: CA349626930

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620030C>G , CM000664.2:g.178620030C>G GRCh38
NC_000002.11:g.179484757C>G , CM000664.1:g.179484757C>G GRCh37
NC_000002.10:g.179193002C>G NCBI36
NG_011618.3:g.215773G>C , LRG_391:g.215773G>C
NG_051363.1:g.102204C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.38683G>C (TTN) ENSP00000343764.6:p.Gly12895Arg
ENST00000342175.11:c.19768G>C (TTN) ENSP00000340554.6:p.Gly6590Arg
ENST00000359218.10:c.19567G>C (TTN) ENSP00000352154.5:p.Gly6523Arg
ENST00000342175.10:c.19768G>C (TTN) ENSP00000340554.6:p.Gly6590Arg
ENST00000342992.10:c.38683G>C (TTN) ENSP00000343764.6:p.Gly12895Arg
ENST00000359218.9:c.19567G>C (TTN) ENSP00000352154.5:p.Gly6523Arg
ENST00000460472.6:c.19192G>C (TTN) ENSP00000434586.1:p.Gly6398Arg
ENST00000589042.5:c.46387G>C (TTN) MANE Select ENSP00000467141.1:p.Gly15463Arg
ENST00000591111.5:c.41464G>C (TTN) ENSP00000465570.1:p.Gly13822Arg
ENST00000615779.4:c.41464G>C (TTN) ENSP00000483597.1:p.Gly13822Arg
NM_001256850.1:c.41464G>C (TTN) NP_001243779.1:p.Gly13822Arg
NM_001267550.2:c.46387G>C (TTN) MANE Select NP_001254479.2:p.Gly15463Arg
NM_003319.4:c.19192G>C (TTN) NP_003310.4:p.Gly6398Arg
NM_133378.4:c.38683G>C (TTN) NP_596869.4:p.Gly12895Arg
NM_133432.3:c.19567G>C (TTN) NP_597676.3:p.Gly6523Arg
NM_133437.4:c.19768G>C (TTN) NP_597681.4:p.Gly6590Arg
NR_038271.1:n.1882C>G (TTN-AS1)
XM_011511729.1:c.45484G>C (TTN) XP_011510031.1:p.Gly15162Arg
XM_011511730.1:c.19378G>C (TTN) XP_011510032.1:p.Gly6460Arg
XM_011511731.1:c.19237G>C (TTN) XP_011510033.1:p.Gly6413Arg
XM_017004819.1:c.45280G>C (TTN) XP_016860308.1:p.Gly15094Arg
XM_017004820.1:c.40678G>C (TTN) XP_016860309.1:p.Gly13560Arg
XM_017004821.1:c.40675G>C (TTN) XP_016860310.1:p.Gly13559Arg
XM_017004822.1:c.37717G>C (TTN) XP_016860311.1:p.Gly12573Arg
XM_017004823.1:c.19333G>C (TTN) XP_016860312.1:p.Gly6445Arg
XM_024453094.1:c.40828G>C (TTN) XP_024308862.1:p.Gly13610Arg
XM_024453095.1:c.40825G>C (TTN) XP_024308863.1:p.Gly13609Arg
XM_024453096.1:c.40258G>C (TTN) XP_024308864.1:p.Gly13420Arg
XM_024453097.1:c.37600G>C (TTN) XP_024308865.1:p.Gly12534Arg
XM_024453098.1:c.37519G>C (TTN) XP_024308866.1:p.Gly12507Arg
XM_024453099.1:c.19282G>C (TTN) XP_024308867.1:p.Gly6428Arg
XM_024453100.1:c.9136G>C (TTN) XP_024308868.1:p.Gly3046Arg