Canonical Allele Identifier: CA140797
Community Standard Title: NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568316T>G , CM000664.2:g.178568316T>G GRCh38
NC_000002.11:g.179433043T>G , CM000664.1:g.179433043T>G GRCh37
NC_000002.10:g.179141289T>G NCBI36
NG_011618.3:g.267487A>C , LRG_391:g.267487A>C
NG_051363.1:g.50490T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.77816A>C (TTN) MANE Select NP_001254479.2:p.Asp25939Ala
ENST00000589042.5:c.77816A>C (TTN) MANE Select ENSP00000467141.1:p.Asp25939Ala
NM_001256850.1:c.72893A>C (TTN) NP_001243779.1:p.Asp24298Ala
NM_003319.4:c.50621A>C (TTN) NP_003310.4:p.Asp16874Ala
NM_133378.4:c.70112A>C (TTN) NP_596869.4:p.Asp23371Ala
NM_133432.3:c.50996A>C (TTN) NP_597676.3:p.Asp16999Ala
NM_133437.4:c.51197A>C (TTN) NP_597681.4:p.Asp17066Ala
NR_038271.1:n.447-2984T>G (TTN-AS1)
NR_038272.1:n.2044-14256T>G (TTN-AS1)
ENST00000342175.10:c.51197A>C (TTN) ENSP00000340554.6:p.Asp17066Ala
ENST00000342175.11:c.51197A>C (TTN) ENSP00000340554.6:p.Asp17066Ala
ENST00000342992.10:c.70112A>C (TTN) ENSP00000343764.6:p.Asp23371Ala
ENST00000342992.11:c.70112A>C (TTN) ENSP00000343764.6:p.Asp23371Ala
ENST00000359218.10:c.50996A>C (TTN) ENSP00000352154.5:p.Asp16999Ala
ENST00000359218.9:c.50996A>C (TTN) ENSP00000352154.5:p.Asp16999Ala
ENST00000460472.6:c.50621A>C (TTN) ENSP00000434586.1:p.Asp16874Ala
ENST00000591111.5:c.72893A>C (TTN) ENSP00000465570.1:p.Asp24298Ala
ENST00000615779.4:c.72893A>C (TTN) ENSP00000483597.1:p.Asp24298Ala
XM_011511729.1:c.76913A>C (TTN) XP_011510031.1:p.Asp25638Ala
XM_011511730.1:c.50807A>C (TTN) XP_011510032.1:p.Asp16936Ala
XM_011511731.1:c.50666A>C (TTN) XP_011510033.1:p.Asp16889Ala
XM_017004819.1:c.76709A>C (TTN) XP_016860308.1:p.Asp25570Ala
XM_017004820.1:c.72107A>C (TTN) XP_016860309.1:p.Asp24036Ala
XM_017004821.1:c.72104A>C (TTN) XP_016860310.1:p.Asp24035Ala
XM_017004822.1:c.69146A>C (TTN) XP_016860311.1:p.Asp23049Ala
XM_017004823.1:c.50762A>C (TTN) XP_016860312.1:p.Asp16921Ala
XM_024453094.1:c.72257A>C (TTN) XP_024308862.1:p.Asp24086Ala
XM_024453095.1:c.72254A>C (TTN) XP_024308863.1:p.Asp24085Ala
XM_024453096.1:c.71687A>C (TTN) XP_024308864.1:p.Asp23896Ala
XM_024453097.1:c.69029A>C (TTN) XP_024308865.1:p.Asp23010Ala
XM_024453098.1:c.68948A>C (TTN) XP_024308866.1:p.Asp22983Ala
XM_024453099.1:c.50711A>C (TTN) XP_024308867.1:p.Asp16904Ala
XM_024453100.1:c.40565A>C (TTN) XP_024308868.1:p.Asp13522Ala