Canonical Allele Identifier: CA349406726

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530431G>C , CM000664.2:g.178530431G>C GRCh38
NC_000002.11:g.179395158G>C , CM000664.1:g.179395158G>C GRCh37
NC_000002.10:g.179103404G>C NCBI36
NG_011618.3:g.305372C>G , LRG_391:g.305372C>G
NG_051363.1:g.12605G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98480C>G (TTN) ENSP00000343764.6:p.Ser32827Ter
ENST00000342175.11:c.79565C>G (TTN) ENSP00000340554.6:p.Ser26522Ter
ENST00000359218.10:c.79364C>G (TTN) ENSP00000352154.5:p.Ser26455Ter
ENST00000342175.10:c.79565C>G (TTN) ENSP00000340554.6:p.Ser26522Ter
ENST00000342992.10:c.98480C>G (TTN) ENSP00000343764.6:p.Ser32827Ter
ENST00000359218.9:c.79364C>G (TTN) ENSP00000352154.5:p.Ser26455Ter
ENST00000460472.6:c.78989C>G (TTN) ENSP00000434586.1:p.Ser26330Ter
ENST00000589042.5:c.106184C>G (TTN) MANE Select ENSP00000467141.1:p.Ser35395Ter
ENST00000591111.5:c.101261C>G (TTN) ENSP00000465570.1:p.Ser33754Ter
ENST00000615779.4:c.101261C>G (TTN) ENSP00000483597.1:p.Ser33754Ter
NM_001256850.1:c.101261C>G (TTN) NP_001243779.1:p.Ser33754Ter
NM_001267550.2:c.106184C>G (TTN) MANE Select NP_001254479.2:p.Ser35395Ter
NM_003319.4:c.78989C>G (TTN) NP_003310.4:p.Ser26330Ter
NM_133378.4:c.98480C>G (TTN) NP_596869.4:p.Ser32827Ter
NM_133432.3:c.79364C>G (TTN) NP_597676.3:p.Ser26455Ter
NM_133437.4:c.79565C>G (TTN) NP_597681.4:p.Ser26522Ter
NR_038271.1:n.446+6795G>C (TTN-AS1)
NR_038272.1:n.220-5301G>C (TTN-AS1)
XM_011511729.1:c.105281C>G (TTN) XP_011510031.1:p.Ser35094Ter
XM_011511730.1:c.79175C>G (TTN) XP_011510032.1:p.Ser26392Ter
XM_011511731.1:c.79034C>G (TTN) XP_011510033.1:p.Ser26345Ter
XM_017004819.1:c.105077C>G (TTN) XP_016860308.1:p.Ser35026Ter
XM_017004820.1:c.100475C>G (TTN) XP_016860309.1:p.Ser33492Ter
XM_017004821.1:c.100472C>G (TTN) XP_016860310.1:p.Ser33491Ter
XM_017004822.1:c.97514C>G (TTN) XP_016860311.1:p.Ser32505Ter
XM_017004823.1:c.79130C>G (TTN) XP_016860312.1:p.Ser26377Ter
XM_024453094.1:c.100625C>G (TTN) XP_024308862.1:p.Ser33542Ter
XM_024453095.1:c.100622C>G (TTN) XP_024308863.1:p.Ser33541Ter
XM_024453096.1:c.100055C>G (TTN) XP_024308864.1:p.Ser33352Ter
XM_024453097.1:c.97397C>G (TTN) XP_024308865.1:p.Ser32466Ter
XM_024453098.1:c.97316C>G (TTN) XP_024308866.1:p.Ser32439Ter
XM_024453099.1:c.79079C>G (TTN) XP_024308867.1:p.Ser26360Ter
XM_024453100.1:c.68933C>G (TTN) XP_024308868.1:p.Ser22978Ter