Canonical Allele Identifier: CA349598354
Community Standard Title: NM_001267550.2(TTN):c.79264A>G (p.Ile26422Val)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566868T>C , CM000664.2:g.178566868T>C GRCh38
NC_000002.11:g.179431595T>C , CM000664.1:g.179431595T>C GRCh37
NC_000002.10:g.179139841T>C NCBI36
NG_011618.3:g.268935A>G , LRG_391:g.268935A>G
NG_051363.1:g.49042T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.79264A>G (TTN) MANE Select NP_001254479.2:p.Ile26422Val
ENST00000589042.5:c.79264A>G (TTN) MANE Select ENSP00000467141.1:p.Ile26422Val
NM_001256850.1:c.74341A>G (TTN) NP_001243779.1:p.Ile24781Val
NM_003319.4:c.52069A>G (TTN) NP_003310.4:p.Ile17357Val
NM_133378.4:c.71560A>G (TTN) NP_596869.4:p.Ile23854Val
NM_133432.3:c.52444A>G (TTN) NP_597676.3:p.Ile17482Val
NM_133437.4:c.52645A>G (TTN) NP_597681.4:p.Ile17549Val
NR_038271.1:n.447-4432T>C (TTN-AS1)
NR_038272.1:n.2044-15704T>C (TTN-AS1)
ENST00000342175.10:c.52645A>G (TTN) ENSP00000340554.6:p.Ile17549Val
ENST00000342175.11:c.52645A>G (TTN) ENSP00000340554.6:p.Ile17549Val
ENST00000342992.10:c.71560A>G (TTN) ENSP00000343764.6:p.Ile23854Val
ENST00000342992.11:c.71560A>G (TTN) ENSP00000343764.6:p.Ile23854Val
ENST00000359218.10:c.52444A>G (TTN) ENSP00000352154.5:p.Ile17482Val
ENST00000359218.9:c.52444A>G (TTN) ENSP00000352154.5:p.Ile17482Val
ENST00000460472.6:c.52069A>G (TTN) ENSP00000434586.1:p.Ile17357Val
ENST00000591111.5:c.74341A>G (TTN) ENSP00000465570.1:p.Ile24781Val
ENST00000615779.4:c.74341A>G (TTN) ENSP00000483597.1:p.Ile24781Val
XM_011511729.1:c.78361A>G (TTN) XP_011510031.1:p.Ile26121Val
XM_011511730.1:c.52255A>G (TTN) XP_011510032.1:p.Ile17419Val
XM_011511731.1:c.52114A>G (TTN) XP_011510033.1:p.Ile17372Val
XM_017004819.1:c.78157A>G (TTN) XP_016860308.1:p.Ile26053Val
XM_017004820.1:c.73555A>G (TTN) XP_016860309.1:p.Ile24519Val
XM_017004821.1:c.73552A>G (TTN) XP_016860310.1:p.Ile24518Val
XM_017004822.1:c.70594A>G (TTN) XP_016860311.1:p.Ile23532Val
XM_017004823.1:c.52210A>G (TTN) XP_016860312.1:p.Ile17404Val
XM_024453094.1:c.73705A>G (TTN) XP_024308862.1:p.Ile24569Val
XM_024453095.1:c.73702A>G (TTN) XP_024308863.1:p.Ile24568Val
XM_024453096.1:c.73135A>G (TTN) XP_024308864.1:p.Ile24379Val
XM_024453097.1:c.70477A>G (TTN) XP_024308865.1:p.Ile23493Val
XM_024453098.1:c.70396A>G (TTN) XP_024308866.1:p.Ile23466Val
XM_024453099.1:c.52159A>G (TTN) XP_024308867.1:p.Ile17387Val
XM_024453100.1:c.42013A>G (TTN) XP_024308868.1:p.Ile14005Val