Canonical Allele Identifier: CA1987566
Community Standard Title: NM_001267550.2(TTN):c.91774G>A (p.Asp30592Asn)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178550064C>T , CM000664.2:g.178550064C>T GRCh38
NC_000002.11:g.179414791C>T , CM000664.1:g.179414791C>T GRCh37
NC_000002.10:g.179123037C>T NCBI36
NG_011618.3:g.285739G>A , LRG_391:g.285739G>A
NG_051363.1:g.32238C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.91774G>A (TTN) MANE Select NP_001254479.2:p.Asp30592Asn
ENST00000589042.5:c.91774G>A (TTN) MANE Select ENSP00000467141.1:p.Asp30592Asn
NM_001256850.1:c.86851G>A (TTN) NP_001243779.1:p.Asp28951Asn
NM_003319.4:c.64579G>A (TTN) NP_003310.4:p.Asp21527Asn
NM_133378.4:c.84070G>A (TTN) NP_596869.4:p.Asp28024Asn
NM_133432.3:c.64954G>A (TTN) NP_597676.3:p.Asp21652Asn
NM_133437.4:c.65155G>A (TTN) NP_597681.4:p.Asp21719Asn
NR_038271.1:n.447-21236C>T (TTN-AS1)
NR_038272.1:n.2043+7703C>T (TTN-AS1)
ENST00000342175.10:c.65155G>A (TTN) ENSP00000340554.6:p.Asp21719Asn
ENST00000342175.11:c.65155G>A (TTN) ENSP00000340554.6:p.Asp21719Asn
ENST00000342992.10:c.84070G>A (TTN) ENSP00000343764.6:p.Asp28024Asn
ENST00000342992.11:c.84070G>A (TTN) ENSP00000343764.6:p.Asp28024Asn
ENST00000359218.10:c.64954G>A (TTN) ENSP00000352154.5:p.Asp21652Asn
ENST00000359218.9:c.64954G>A (TTN) ENSP00000352154.5:p.Asp21652Asn
ENST00000460472.6:c.64579G>A (TTN) ENSP00000434586.1:p.Asp21527Asn
ENST00000591111.5:c.86851G>A (TTN) ENSP00000465570.1:p.Asp28951Asn
ENST00000615779.4:c.86851G>A (TTN) ENSP00000483597.1:p.Asp28951Asn
XM_011511729.1:c.90871G>A (TTN) XP_011510031.1:p.Asp30291Asn
XM_011511730.1:c.64765G>A (TTN) XP_011510032.1:p.Asp21589Asn
XM_011511731.1:c.64624G>A (TTN) XP_011510033.1:p.Asp21542Asn
XM_017004819.1:c.90667G>A (TTN) XP_016860308.1:p.Asp30223Asn
XM_017004820.1:c.86065G>A (TTN) XP_016860309.1:p.Asp28689Asn
XM_017004821.1:c.86062G>A (TTN) XP_016860310.1:p.Asp28688Asn
XM_017004822.1:c.83104G>A (TTN) XP_016860311.1:p.Asp27702Asn
XM_017004823.1:c.64720G>A (TTN) XP_016860312.1:p.Asp21574Asn
XM_024453094.1:c.86215G>A (TTN) XP_024308862.1:p.Asp28739Asn
XM_024453095.1:c.86212G>A (TTN) XP_024308863.1:p.Asp28738Asn
XM_024453096.1:c.85645G>A (TTN) XP_024308864.1:p.Asp28549Asn
XM_024453097.1:c.82987G>A (TTN) XP_024308865.1:p.Asp27663Asn
XM_024453098.1:c.82906G>A (TTN) XP_024308866.1:p.Asp27636Asn
XM_024453099.1:c.64669G>A (TTN) XP_024308867.1:p.Asp21557Asn
XM_024453100.1:c.54523G>A (TTN) XP_024308868.1:p.Asp18175Asn