Canonical Allele Identifier: CA1993025
Community Standard Title: NM_001267550.2(TTN):c.57545-2A>G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178595811T>C , CM000664.2:g.178595811T>C GRCh38
NC_000002.11:g.179460538T>C , CM000664.1:g.179460538T>C GRCh37
NC_000002.10:g.179168784T>C NCBI36
NG_011618.3:g.239992A>G , LRG_391:g.239992A>G
NG_051363.1:g.77985T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.57545-2A>G (TTN) MANE Select NP_001254479.2:n.57545-2A>G
ENST00000589042.5:c.57545-2A>G (TTN) MANE Select ENSP00000467141.1:n.57545-2A>G
NM_001256850.1:c.52622-2A>G (TTN) NP_001243779.1:n.52622-2A>G
NM_003319.4:c.30350-2A>G (TTN) NP_003310.4:n.30350-2A>G
NM_133378.4:c.49841-2A>G (TTN) NP_596869.4:n.49841-2A>G
NM_133432.3:c.30725-2A>G (TTN) NP_597676.3:n.30725-2A>G
NM_133437.4:c.30926-2A>G (TTN) NP_597681.4:n.30926-2A>G
NR_038271.1:n.597-1785T>C (TTN-AS1)
NR_038272.1:n.3365-1785T>C (TTN-AS1)
ENST00000342175.10:c.30926-2A>G (TTN) ENSP00000340554.6:n.30926-2A>G
ENST00000342175.11:c.30926-2A>G (TTN) ENSP00000340554.6:n.30926-2A>G
ENST00000342992.10:c.49841-2A>G (TTN) ENSP00000343764.6:n.49841-2A>G
ENST00000342992.11:c.49841-2A>G (TTN) ENSP00000343764.6:n.49841-2A>G
ENST00000359218.10:c.30725-2A>G (TTN) ENSP00000352154.5:n.30725-2A>G
ENST00000359218.9:c.30725-2A>G (TTN) ENSP00000352154.5:n.30725-2A>G
ENST00000460472.6:c.30350-2A>G (TTN) ENSP00000434586.1:n.30350-2A>G
ENST00000591111.5:c.52622-2A>G (TTN) ENSP00000465570.1:n.52622-2A>G
ENST00000615779.4:c.52622-2A>G (TTN) ENSP00000483597.1:n.52622-2A>G
XM_011511729.1:c.56642-2A>G (TTN) XP_011510031.1:n.56642-2A>G
XM_011511730.1:c.30536-2A>G (TTN) XP_011510032.1:n.30536-2A>G
XM_011511731.1:c.30395-2A>G (TTN) XP_011510033.1:n.30395-2A>G
XM_017004819.1:c.56438-2A>G (TTN) XP_016860308.1:n.56438-2A>G
XM_017004820.1:c.51836-2A>G (TTN) XP_016860309.1:n.51836-2A>G
XM_017004821.1:c.51833-2A>G (TTN) XP_016860310.1:n.51833-2A>G
XM_017004822.1:c.48875-2A>G (TTN) XP_016860311.1:n.48875-2A>G
XM_017004823.1:c.30491-2A>G (TTN) XP_016860312.1:n.30491-2A>G
XM_024453094.1:c.51986-2A>G (TTN) XP_024308862.1:n.51986-2A>G
XM_024453095.1:c.51983-2A>G (TTN) XP_024308863.1:n.51983-2A>G
XM_024453096.1:c.51416-2A>G (TTN) XP_024308864.1:n.51416-2A>G
XM_024453097.1:c.48758-2A>G (TTN) XP_024308865.1:n.48758-2A>G
XM_024453098.1:c.48677-2A>G (TTN) XP_024308866.1:n.48677-2A>G
XM_024453099.1:c.30440-2A>G (TTN) XP_024308867.1:n.30440-2A>G
XM_024453100.1:c.20294-2A>G (TTN) XP_024308868.1:n.20294-2A>G