Canonical Allele Identifier: CA349637865
Community Standard Title: NM_001267550.2(TTN):c.73646C>G (p.Ser24549Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178572486G>C , CM000664.2:g.178572486G>C GRCh38
NC_000002.11:g.179437213G>C , CM000664.1:g.179437213G>C GRCh37
NC_000002.10:g.179145459G>C NCBI36
NG_011618.3:g.263317C>G , LRG_391:g.263317C>G
NG_051363.1:g.54660G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.73646C>G (TTN) MANE Select NP_001254479.2:p.Ser24549Ter
ENST00000589042.5:c.73646C>G (TTN) MANE Select ENSP00000467141.1:p.Ser24549Ter
NM_001256850.1:c.68723C>G (TTN) NP_001243779.1:p.Ser22908Ter
NM_003319.4:c.46451C>G (TTN) NP_003310.4:p.Ser15484Ter
NM_133378.4:c.65942C>G (TTN) NP_596869.4:p.Ser21981Ter
NM_133432.3:c.46826C>G (TTN) NP_597676.3:p.Ser15609Ter
NM_133437.4:c.47027C>G (TTN) NP_597681.4:p.Ser15676Ter
NR_038271.1:n.596+1037G>C (TTN-AS1)
NR_038272.1:n.2044-10086G>C (TTN-AS1)
ENST00000342175.10:c.47027C>G (TTN) ENSP00000340554.6:p.Ser15676Ter
ENST00000342175.11:c.47027C>G (TTN) ENSP00000340554.6:p.Ser15676Ter
ENST00000342992.10:c.65942C>G (TTN) ENSP00000343764.6:p.Ser21981Ter
ENST00000342992.11:c.65942C>G (TTN) ENSP00000343764.6:p.Ser21981Ter
ENST00000359218.10:c.46826C>G (TTN) ENSP00000352154.5:p.Ser15609Ter
ENST00000359218.9:c.46826C>G (TTN) ENSP00000352154.5:p.Ser15609Ter
ENST00000460472.6:c.46451C>G (TTN) ENSP00000434586.1:p.Ser15484Ter
ENST00000591111.5:c.68723C>G (TTN) ENSP00000465570.1:p.Ser22908Ter
ENST00000615779.4:c.68723C>G (TTN) ENSP00000483597.1:p.Ser22908Ter
XM_011511729.1:c.72743C>G (TTN) XP_011510031.1:p.Ser24248Ter
XM_011511730.1:c.46637C>G (TTN) XP_011510032.1:p.Ser15546Ter
XM_011511731.1:c.46496C>G (TTN) XP_011510033.1:p.Ser15499Ter
XM_017004819.1:c.72539C>G (TTN) XP_016860308.1:p.Ser24180Ter
XM_017004820.1:c.67937C>G (TTN) XP_016860309.1:p.Ser22646Ter
XM_017004821.1:c.67934C>G (TTN) XP_016860310.1:p.Ser22645Ter
XM_017004822.1:c.64976C>G (TTN) XP_016860311.1:p.Ser21659Ter
XM_017004823.1:c.46592C>G (TTN) XP_016860312.1:p.Ser15531Ter
XM_024453094.1:c.68087C>G (TTN) XP_024308862.1:p.Ser22696Ter
XM_024453095.1:c.68084C>G (TTN) XP_024308863.1:p.Ser22695Ter
XM_024453096.1:c.67517C>G (TTN) XP_024308864.1:p.Ser22506Ter
XM_024453097.1:c.64859C>G (TTN) XP_024308865.1:p.Ser21620Ter
XM_024453098.1:c.64778C>G (TTN) XP_024308866.1:p.Ser21593Ter
XM_024453099.1:c.46541C>G (TTN) XP_024308867.1:p.Ser15514Ter
XM_024453100.1:c.36395C>G (TTN) XP_024308868.1:p.Ser12132Ter