Canonical Allele Identifier: CA430236163

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532593T>C , CM000664.2:g.178532593T>C GRCh38
NC_000002.11:g.179397320T>C , CM000664.1:g.179397320T>C GRCh37
NC_000002.10:g.179105566T>C NCBI36
NG_011618.3:g.303210A>G , LRG_391:g.303210A>G
NG_051363.1:g.14767T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96318A>G (TTN) ENSP00000343764.6:p.Lys32106=
ENST00000342175.11:c.77403A>G (TTN) ENSP00000340554.6:p.Lys25801=
ENST00000359218.10:c.77202A>G (TTN) ENSP00000352154.5:p.Lys25734=
ENST00000342175.10:c.77403A>G (TTN) ENSP00000340554.6:p.Lys25801=
ENST00000342992.10:c.96318A>G (TTN) ENSP00000343764.6:p.Lys32106=
ENST00000359218.9:c.77202A>G (TTN) ENSP00000352154.5:p.Lys25734=
ENST00000460472.6:c.76827A>G (TTN) ENSP00000434586.1:p.Lys25609=
ENST00000589042.5:c.104022A>G (TTN) MANE Select ENSP00000467141.1:p.Lys34674=
ENST00000591111.5:c.99099A>G (TTN) ENSP00000465570.1:p.Lys33033=
ENST00000615779.4:c.99099A>G (TTN) ENSP00000483597.1:p.Lys33033=
NM_001256850.1:c.99099A>G (TTN) NP_001243779.1:p.Lys33033=
NM_001267550.2:c.104022A>G (TTN) MANE Select NP_001254479.2:p.Lys34674=
NM_003319.4:c.76827A>G (TTN) NP_003310.4:p.Lys25609=
NM_133378.4:c.96318A>G (TTN) NP_596869.4:p.Lys32106=
NM_133432.3:c.77202A>G (TTN) NP_597676.3:p.Lys25734=
NM_133437.4:c.77403A>G (TTN) NP_597681.4:p.Lys25801=
NR_038271.1:n.446+8957T>C (TTN-AS1)
NR_038272.1:n.220-3139T>C (TTN-AS1)
XM_011511729.1:c.103119A>G (TTN) XP_011510031.1:p.Lys34373=
XM_011511730.1:c.77013A>G (TTN) XP_011510032.1:p.Lys25671=
XM_011511731.1:c.76872A>G (TTN) XP_011510033.1:p.Lys25624=
XM_017004819.1:c.102915A>G (TTN) XP_016860308.1:p.Lys34305=
XM_017004820.1:c.98313A>G (TTN) XP_016860309.1:p.Lys32771=
XM_017004821.1:c.98310A>G (TTN) XP_016860310.1:p.Lys32770=
XM_017004822.1:c.95352A>G (TTN) XP_016860311.1:p.Lys31784=
XM_017004823.1:c.76968A>G (TTN) XP_016860312.1:p.Lys25656=
XM_024453094.1:c.98463A>G (TTN) XP_024308862.1:p.Lys32821=
XM_024453095.1:c.98460A>G (TTN) XP_024308863.1:p.Lys32820=
XM_024453096.1:c.97893A>G (TTN) XP_024308864.1:p.Lys32631=
XM_024453097.1:c.95235A>G (TTN) XP_024308865.1:p.Lys31745=
XM_024453098.1:c.95154A>G (TTN) XP_024308866.1:p.Lys31718=
XM_024453099.1:c.76917A>G (TTN) XP_024308867.1:p.Lys25639=
XM_024453100.1:c.66771A>G (TTN) XP_024308868.1:p.Lys22257=