Canonical Allele Identifier: CA16603885
Community Standard Title: NM_001267550.2(TTN):c.68498C>G (p.Ser22833Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178578017G>C , CM000664.2:g.178578017G>C GRCh38
NC_000002.11:g.179442744G>C , CM000664.1:g.179442744G>C GRCh37
NC_000002.10:g.179150990G>C NCBI36
NG_011618.3:g.257786C>G , LRG_391:g.257786C>G
NG_051363.1:g.60191G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.68498C>G (TTN) MANE Select NP_001254479.2:p.Ser22833Ter
ENST00000589042.5:c.68498C>G (TTN) MANE Select ENSP00000467141.1:p.Ser22833Ter
NM_001256850.1:c.63575C>G (TTN) NP_001243779.1:p.Ser21192Ter
NM_003319.4:c.41303C>G (TTN) NP_003310.4:p.Ser13768Ter
NM_133378.4:c.60794C>G (TTN) NP_596869.4:p.Ser20265Ter
NM_133432.3:c.41678C>G (TTN) NP_597676.3:p.Ser13893Ter
NM_133437.4:c.41879C>G (TTN) NP_597681.4:p.Ser13960Ter
NR_038271.1:n.596+6568G>C (TTN-AS1)
NR_038272.1:n.2044-4555G>C (TTN-AS1)
ENST00000342175.10:c.41879C>G (TTN) ENSP00000340554.6:p.Ser13960Ter
ENST00000342175.11:c.41879C>G (TTN) ENSP00000340554.6:p.Ser13960Ter
ENST00000342992.10:c.60794C>G (TTN) ENSP00000343764.6:p.Ser20265Ter
ENST00000342992.11:c.60794C>G (TTN) ENSP00000343764.6:p.Ser20265Ter
ENST00000359218.10:c.41678C>G (TTN) ENSP00000352154.5:p.Ser13893Ter
ENST00000359218.9:c.41678C>G (TTN) ENSP00000352154.5:p.Ser13893Ter
ENST00000460472.6:c.41303C>G (TTN) ENSP00000434586.1:p.Ser13768Ter
ENST00000591111.5:c.63575C>G (TTN) ENSP00000465570.1:p.Ser21192Ter
ENST00000615779.4:c.63575C>G (TTN) ENSP00000483597.1:p.Ser21192Ter
XM_011511729.1:c.67595C>G (TTN) XP_011510031.1:p.Ser22532Ter
XM_011511730.1:c.41489C>G (TTN) XP_011510032.1:p.Ser13830Ter
XM_011511731.1:c.41348C>G (TTN) XP_011510033.1:p.Ser13783Ter
XM_017004819.1:c.67391C>G (TTN) XP_016860308.1:p.Ser22464Ter
XM_017004820.1:c.62789C>G (TTN) XP_016860309.1:p.Ser20930Ter
XM_017004821.1:c.62786C>G (TTN) XP_016860310.1:p.Ser20929Ter
XM_017004822.1:c.59828C>G (TTN) XP_016860311.1:p.Ser19943Ter
XM_017004823.1:c.41444C>G (TTN) XP_016860312.1:p.Ser13815Ter
XM_024453094.1:c.62939C>G (TTN) XP_024308862.1:p.Ser20980Ter
XM_024453095.1:c.62936C>G (TTN) XP_024308863.1:p.Ser20979Ter
XM_024453096.1:c.62369C>G (TTN) XP_024308864.1:p.Ser20790Ter
XM_024453097.1:c.59711C>G (TTN) XP_024308865.1:p.Ser19904Ter
XM_024453098.1:c.59630C>G (TTN) XP_024308866.1:p.Ser19877Ter
XM_024453099.1:c.41393C>G (TTN) XP_024308867.1:p.Ser13798Ter
XM_024453100.1:c.31247C>G (TTN) XP_024308868.1:p.Ser10416Ter