Canonical Allele Identifier: CA349628177

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570943G>T , CM000664.2:g.178570943G>T GRCh38
NC_000002.11:g.179435670G>T , CM000664.1:g.179435670G>T GRCh37
NC_000002.10:g.179143916G>T NCBI36
NG_011618.3:g.264860C>A , LRG_391:g.264860C>A
NG_051363.1:g.53117G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.67485C>A (TTN) ENSP00000343764.6:p.Asp22495Glu
ENST00000342175.11:c.48570C>A (TTN) ENSP00000340554.6:p.Asp16190Glu
ENST00000359218.10:c.48369C>A (TTN) ENSP00000352154.5:p.Asp16123Glu
ENST00000342175.10:c.48570C>A (TTN) ENSP00000340554.6:p.Asp16190Glu
ENST00000342992.10:c.67485C>A (TTN) ENSP00000343764.6:p.Asp22495Glu
ENST00000359218.9:c.48369C>A (TTN) ENSP00000352154.5:p.Asp16123Glu
ENST00000460472.6:c.47994C>A (TTN) ENSP00000434586.1:p.Asp15998Glu
ENST00000589042.5:c.75189C>A (TTN) MANE Select ENSP00000467141.1:p.Asp25063Glu
ENST00000591111.5:c.70266C>A (TTN) ENSP00000465570.1:p.Asp23422Glu
ENST00000615779.4:c.70266C>A (TTN) ENSP00000483597.1:p.Asp23422Glu
NM_001256850.1:c.70266C>A (TTN) NP_001243779.1:p.Asp23422Glu
NM_001267550.2:c.75189C>A (TTN) MANE Select NP_001254479.2:p.Asp25063Glu
NM_003319.4:c.47994C>A (TTN) NP_003310.4:p.Asp15998Glu
NM_133378.4:c.67485C>A (TTN) NP_596869.4:p.Asp22495Glu
NM_133432.3:c.48369C>A (TTN) NP_597676.3:p.Asp16123Glu
NM_133437.4:c.48570C>A (TTN) NP_597681.4:p.Asp16190Glu
NR_038271.1:n.447-357G>T (TTN-AS1)
NR_038272.1:n.2044-11629G>T (TTN-AS1)
XM_011511729.1:c.74286C>A (TTN) XP_011510031.1:p.Asp24762Glu
XM_011511730.1:c.48180C>A (TTN) XP_011510032.1:p.Asp16060Glu
XM_011511731.1:c.48039C>A (TTN) XP_011510033.1:p.Asp16013Glu
XM_017004819.1:c.74082C>A (TTN) XP_016860308.1:p.Asp24694Glu
XM_017004820.1:c.69480C>A (TTN) XP_016860309.1:p.Asp23160Glu
XM_017004821.1:c.69477C>A (TTN) XP_016860310.1:p.Asp23159Glu
XM_017004822.1:c.66519C>A (TTN) XP_016860311.1:p.Asp22173Glu
XM_017004823.1:c.48135C>A (TTN) XP_016860312.1:p.Asp16045Glu
XM_024453094.1:c.69630C>A (TTN) XP_024308862.1:p.Asp23210Glu
XM_024453095.1:c.69627C>A (TTN) XP_024308863.1:p.Asp23209Glu
XM_024453096.1:c.69060C>A (TTN) XP_024308864.1:p.Asp23020Glu
XM_024453097.1:c.66402C>A (TTN) XP_024308865.1:p.Asp22134Glu
XM_024453098.1:c.66321C>A (TTN) XP_024308866.1:p.Asp22107Glu
XM_024453099.1:c.48084C>A (TTN) XP_024308867.1:p.Asp16028Glu
XM_024453100.1:c.37938C>A (TTN) XP_024308868.1:p.Asp12646Glu