Canonical Allele Identifier: CA349469525

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546480A>C , CM000664.2:g.178546480A>C GRCh38
NC_000002.11:g.179411207A>C , CM000664.1:g.179411207A>C GRCh37
NC_000002.10:g.179119453A>C NCBI36
NG_011618.3:g.289323T>G , LRG_391:g.289323T>G
NG_051363.1:g.28654A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87147T>G (TTN) ENSP00000343764.6:p.Asp29049Glu
ENST00000342175.11:c.68232T>G (TTN) ENSP00000340554.6:p.Asp22744Glu
ENST00000359218.10:c.68031T>G (TTN) ENSP00000352154.5:p.Asp22677Glu
ENST00000342175.10:c.68232T>G (TTN) ENSP00000340554.6:p.Asp22744Glu
ENST00000342992.10:c.87147T>G (TTN) ENSP00000343764.6:p.Asp29049Glu
ENST00000359218.9:c.68031T>G (TTN) ENSP00000352154.5:p.Asp22677Glu
ENST00000460472.6:c.67656T>G (TTN) ENSP00000434586.1:p.Asp22552Glu
ENST00000589042.5:c.94851T>G (TTN) MANE Select ENSP00000467141.1:p.Asp31617Glu
ENST00000591111.5:c.89928T>G (TTN) ENSP00000465570.1:p.Asp29976Glu
ENST00000615779.4:c.89928T>G (TTN) ENSP00000483597.1:p.Asp29976Glu
NM_001256850.1:c.89928T>G (TTN) NP_001243779.1:p.Asp29976Glu
NM_001267550.2:c.94851T>G (TTN) MANE Select NP_001254479.2:p.Asp31617Glu
NM_003319.4:c.67656T>G (TTN) NP_003310.4:p.Asp22552Glu
NM_133378.4:c.87147T>G (TTN) NP_596869.4:p.Asp29049Glu
NM_133432.3:c.68031T>G (TTN) NP_597676.3:p.Asp22677Glu
NM_133437.4:c.68232T>G (TTN) NP_597681.4:p.Asp22744Glu
NR_038271.1:n.446+22844A>C (TTN-AS1)
NR_038272.1:n.2043+4119A>C (TTN-AS1)
XM_011511729.1:c.93948T>G (TTN) XP_011510031.1:p.Asp31316Glu
XM_011511730.1:c.67842T>G (TTN) XP_011510032.1:p.Asp22614Glu
XM_011511731.1:c.67701T>G (TTN) XP_011510033.1:p.Asp22567Glu
XM_017004819.1:c.93744T>G (TTN) XP_016860308.1:p.Asp31248Glu
XM_017004820.1:c.89142T>G (TTN) XP_016860309.1:p.Asp29714Glu
XM_017004821.1:c.89139T>G (TTN) XP_016860310.1:p.Asp29713Glu
XM_017004822.1:c.86181T>G (TTN) XP_016860311.1:p.Asp28727Glu
XM_017004823.1:c.67797T>G (TTN) XP_016860312.1:p.Asp22599Glu
XM_024453094.1:c.89292T>G (TTN) XP_024308862.1:p.Asp29764Glu
XM_024453095.1:c.89289T>G (TTN) XP_024308863.1:p.Asp29763Glu
XM_024453096.1:c.88722T>G (TTN) XP_024308864.1:p.Asp29574Glu
XM_024453097.1:c.86064T>G (TTN) XP_024308865.1:p.Asp28688Glu
XM_024453098.1:c.85983T>G (TTN) XP_024308866.1:p.Asp28661Glu
XM_024453099.1:c.67746T>G (TTN) XP_024308867.1:p.Asp22582Glu
XM_024453100.1:c.57600T>G (TTN) XP_024308868.1:p.Asp19200Glu