Canonical Allele Identifier: CA1993202
Community Standard Title: NM_001267550.2(TTN):c.56648-1G>A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178599063C>T , CM000664.2:g.178599063C>T GRCh38
NC_000002.11:g.179463790C>T , CM000664.1:g.179463790C>T GRCh37
NC_000002.10:g.179172035C>T NCBI36
NG_011618.3:g.236740G>A , LRG_391:g.236740G>A
NG_051363.1:g.81237C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.56648-1G>A (TTN) MANE Select NP_001254479.2:n.56648-1G>A
ENST00000589042.5:c.56648-1G>A (TTN) MANE Select ENSP00000467141.1:n.56648-1G>A
NM_001256850.1:c.51725-1G>A (TTN) NP_001243779.1:n.51725-1G>A
NM_003319.4:c.29453-1G>A (TTN) NP_003310.4:n.29453-1G>A
NM_133378.4:c.48944-1G>A (TTN) NP_596869.4:n.48944-1G>A
NM_133432.3:c.29828-1G>A (TTN) NP_597676.3:n.29828-1G>A
NM_133437.4:c.30029-1G>A (TTN) NP_597681.4:n.30029-1G>A
NR_038271.1:n.682+1382C>T (TTN-AS1)
NR_038272.1:n.3568+390C>T (TTN-AS1)
ENST00000342175.10:c.30029-1G>A (TTN) ENSP00000340554.6:n.30029-1G>A
ENST00000342175.11:c.30029-1G>A (TTN) ENSP00000340554.6:n.30029-1G>A
ENST00000342992.10:c.48944-1G>A (TTN) ENSP00000343764.6:n.48944-1G>A
ENST00000342992.11:c.48944-1G>A (TTN) ENSP00000343764.6:n.48944-1G>A
ENST00000359218.10:c.29828-1G>A (TTN) ENSP00000352154.5:n.29828-1G>A
ENST00000359218.9:c.29828-1G>A (TTN) ENSP00000352154.5:n.29828-1G>A
ENST00000460472.6:c.29453-1G>A (TTN) ENSP00000434586.1:n.29453-1G>A
ENST00000591111.5:c.51725-1G>A (TTN) ENSP00000465570.1:n.51725-1G>A
ENST00000615779.4:c.51725-1G>A (TTN) ENSP00000483597.1:n.51725-1G>A
XM_011511729.1:c.55745-1G>A (TTN) XP_011510031.1:n.55745-1G>A
XM_011511730.1:c.29639-1G>A (TTN) XP_011510032.1:n.29639-1G>A
XM_011511731.1:c.29498-1G>A (TTN) XP_011510033.1:n.29498-1G>A
XM_017004819.1:c.55541-1G>A (TTN) XP_016860308.1:n.55541-1G>A
XM_017004820.1:c.50939-1G>A (TTN) XP_016860309.1:n.50939-1G>A
XM_017004821.1:c.50936-1G>A (TTN) XP_016860310.1:n.50936-1G>A
XM_017004822.1:c.47978-1G>A (TTN) XP_016860311.1:n.47978-1G>A
XM_017004823.1:c.29594-1G>A (TTN) XP_016860312.1:n.29594-1G>A
XM_024453094.1:c.51089-1G>A (TTN) XP_024308862.1:n.51089-1G>A
XM_024453095.1:c.51086-1G>A (TTN) XP_024308863.1:n.51086-1G>A
XM_024453096.1:c.50519-1G>A (TTN) XP_024308864.1:n.50519-1G>A
XM_024453097.1:c.47861-1G>A (TTN) XP_024308865.1:n.47861-1G>A
XM_024453098.1:c.47780-1G>A (TTN) XP_024308866.1:n.47780-1G>A
XM_024453099.1:c.29543-1G>A (TTN) XP_024308867.1:n.29543-1G>A
XM_024453100.1:c.19397-1G>A (TTN) XP_024308868.1:n.19397-1G>A