Canonical Allele Identifier: CA349431556

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178539109G>T , CM000664.2:g.178539109G>T GRCh38
NC_000002.11:g.179403836G>T , CM000664.1:g.179403836G>T GRCh37
NC_000002.10:g.179112082G>T NCBI36
NG_011618.3:g.296694C>A , LRG_391:g.296694C>A
NG_051363.1:g.21283G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91122C>A (TTN) ENSP00000343764.6:p.Asp30374Glu
ENST00000342175.11:c.72207C>A (TTN) ENSP00000340554.6:p.Asp24069Glu
ENST00000359218.10:c.72006C>A (TTN) ENSP00000352154.5:p.Asp24002Glu
ENST00000342175.10:c.72207C>A (TTN) ENSP00000340554.6:p.Asp24069Glu
ENST00000342992.10:c.91122C>A (TTN) ENSP00000343764.6:p.Asp30374Glu
ENST00000359218.9:c.72006C>A (TTN) ENSP00000352154.5:p.Asp24002Glu
ENST00000460472.6:c.71631C>A (TTN) ENSP00000434586.1:p.Asp23877Glu
ENST00000589042.5:c.98826C>A (TTN) MANE Select ENSP00000467141.1:p.Asp32942Glu
ENST00000591111.5:c.93903C>A (TTN) ENSP00000465570.1:p.Asp31301Glu
ENST00000615779.4:c.93903C>A (TTN) ENSP00000483597.1:p.Asp31301Glu
NM_001256850.1:c.93903C>A (TTN) NP_001243779.1:p.Asp31301Glu
NM_001267550.2:c.98826C>A (TTN) MANE Select NP_001254479.2:p.Asp32942Glu
NM_003319.4:c.71631C>A (TTN) NP_003310.4:p.Asp23877Glu
NM_133378.4:c.91122C>A (TTN) NP_596869.4:p.Asp30374Glu
NM_133432.3:c.72006C>A (TTN) NP_597676.3:p.Asp24002Glu
NM_133437.4:c.72207C>A (TTN) NP_597681.4:p.Asp24069Glu
NR_038271.1:n.446+15473G>T (TTN-AS1)
NR_038272.1:n.1059G>T (TTN-AS1)
XM_011511729.1:c.97923C>A (TTN) XP_011510031.1:p.Asp32641Glu
XM_011511730.1:c.71817C>A (TTN) XP_011510032.1:p.Asp23939Glu
XM_011511731.1:c.71676C>A (TTN) XP_011510033.1:p.Asp23892Glu
XM_017004819.1:c.97719C>A (TTN) XP_016860308.1:p.Asp32573Glu
XM_017004820.1:c.93117C>A (TTN) XP_016860309.1:p.Asp31039Glu
XM_017004821.1:c.93114C>A (TTN) XP_016860310.1:p.Asp31038Glu
XM_017004822.1:c.90156C>A (TTN) XP_016860311.1:p.Asp30052Glu
XM_017004823.1:c.71772C>A (TTN) XP_016860312.1:p.Asp23924Glu
XM_024453094.1:c.93267C>A (TTN) XP_024308862.1:p.Asp31089Glu
XM_024453095.1:c.93264C>A (TTN) XP_024308863.1:p.Asp31088Glu
XM_024453096.1:c.92697C>A (TTN) XP_024308864.1:p.Asp30899Glu
XM_024453097.1:c.90039C>A (TTN) XP_024308865.1:p.Asp30013Glu
XM_024453098.1:c.89958C>A (TTN) XP_024308866.1:p.Asp29986Glu
XM_024453099.1:c.71721C>A (TTN) XP_024308867.1:p.Asp23907Glu
XM_024453100.1:c.61575C>A (TTN) XP_024308868.1:p.Asp20525Glu