Canonical Allele Identifier: CA349464720
Community Standard Title: NM_001267550.2(TTN):c.62477C>G (p.Ser20826Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589248G>C , CM000664.2:g.178589248G>C GRCh38
NC_000002.11:g.179453975G>C , CM000664.1:g.179453975G>C GRCh37
NC_000002.10:g.179162221G>C NCBI36
NG_011618.3:g.246555C>G , LRG_391:g.246555C>G
NG_051363.1:g.71422G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.62477C>G (TTN) MANE Select NP_001254479.2:p.Ser20826Ter
ENST00000589042.5:c.62477C>G (TTN) MANE Select ENSP00000467141.1:p.Ser20826Ter
NM_001256850.1:c.57554C>G (TTN) NP_001243779.1:p.Ser19185Ter
NM_003319.4:c.35282C>G (TTN) NP_003310.4:p.Ser11761Ter
NM_133378.4:c.54773C>G (TTN) NP_596869.4:p.Ser18258Ter
NM_133432.3:c.35657C>G (TTN) NP_597676.3:p.Ser11886Ter
NM_133437.4:c.35858C>G (TTN) NP_597681.4:p.Ser11953Ter
NR_038271.1:n.597-8348G>C (TTN-AS1)
NR_038272.1:n.3189-1891G>C (TTN-AS1)
ENST00000342175.10:c.35858C>G (TTN) ENSP00000340554.6:p.Ser11953Ter
ENST00000342175.11:c.35858C>G (TTN) ENSP00000340554.6:p.Ser11953Ter
ENST00000342992.10:c.54773C>G (TTN) ENSP00000343764.6:p.Ser18258Ter
ENST00000342992.11:c.54773C>G (TTN) ENSP00000343764.6:p.Ser18258Ter
ENST00000359218.10:c.35657C>G (TTN) ENSP00000352154.5:p.Ser11886Ter
ENST00000359218.9:c.35657C>G (TTN) ENSP00000352154.5:p.Ser11886Ter
ENST00000460472.6:c.35282C>G (TTN) ENSP00000434586.1:p.Ser11761Ter
ENST00000591111.5:c.57554C>G (TTN) ENSP00000465570.1:p.Ser19185Ter
ENST00000615779.4:c.57554C>G (TTN) ENSP00000483597.1:p.Ser19185Ter
XM_011511729.1:c.61574C>G (TTN) XP_011510031.1:p.Ser20525Ter
XM_011511730.1:c.35468C>G (TTN) XP_011510032.1:p.Ser11823Ter
XM_011511731.1:c.35327C>G (TTN) XP_011510033.1:p.Ser11776Ter
XM_017004819.1:c.61370C>G (TTN) XP_016860308.1:p.Ser20457Ter
XM_017004820.1:c.56768C>G (TTN) XP_016860309.1:p.Ser18923Ter
XM_017004821.1:c.56765C>G (TTN) XP_016860310.1:p.Ser18922Ter
XM_017004822.1:c.53807C>G (TTN) XP_016860311.1:p.Ser17936Ter
XM_017004823.1:c.35423C>G (TTN) XP_016860312.1:p.Ser11808Ter
XM_024453094.1:c.56918C>G (TTN) XP_024308862.1:p.Ser18973Ter
XM_024453095.1:c.56915C>G (TTN) XP_024308863.1:p.Ser18972Ter
XM_024453096.1:c.56348C>G (TTN) XP_024308864.1:p.Ser18783Ter
XM_024453097.1:c.53690C>G (TTN) XP_024308865.1:p.Ser17897Ter
XM_024453098.1:c.53609C>G (TTN) XP_024308866.1:p.Ser17870Ter
XM_024453099.1:c.35372C>G (TTN) XP_024308867.1:p.Ser11791Ter
XM_024453100.1:c.25226C>G (TTN) XP_024308868.1:p.Ser8409Ter