Canonical Allele Identifier: CA349660621
Community Standard Title: NM_001267550.2(TTN):c.41328A>C (p.Glu13776Asp)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178636399T>G , CM000664.2:g.178636399T>G GRCh38
NC_000002.11:g.179501126T>G , CM000664.1:g.179501126T>G GRCh37
NC_000002.10:g.179209371T>G NCBI36
NG_011618.3:g.199404A>C , LRG_391:g.199404A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.41328A>C MANE Select NP_001254479.2:p.Glu13776Asp
ENST00000589042.5:c.41328A>C MANE Select ENSP00000467141.1:p.Glu13776Asp
NM_001256850.1:c.36405A>C NP_001243779.1:p.Glu12135Asp
NM_003319.4:c.14133A>C NP_003310.4:p.Glu4711Asp
NM_133378.4:c.33624A>C NP_596869.4:p.Glu11208Asp
NM_133432.3:c.14508A>C NP_597676.3:p.Glu4836Asp
NM_133437.4:c.14709A>C NP_597681.4:p.Glu4903Asp
ENST00000342175.10:c.14709A>C ENSP00000340554.6:p.Glu4903Asp
ENST00000342175.11:c.14709A>C ENSP00000340554.6:p.Glu4903Asp
ENST00000342992.10:c.33624A>C ENSP00000343764.6:p.Glu11208Asp
ENST00000342992.11:c.33624A>C ENSP00000343764.6:p.Glu11208Asp
ENST00000359218.10:c.14508A>C ENSP00000352154.5:p.Glu4836Asp
ENST00000359218.9:c.14508A>C ENSP00000352154.5:p.Glu4836Asp
ENST00000460472.6:c.14133A>C ENSP00000434586.1:p.Glu4711Asp
ENST00000591111.5:c.36405A>C ENSP00000465570.1:p.Glu12135Asp
ENST00000615779.4:c.36405A>C ENSP00000483597.1:p.Glu12135Asp
XM_011511729.1:c.40425A>C XP_011510031.1:p.Glu13475Asp
XM_011511730.1:c.14319A>C XP_011510032.1:p.Glu4773Asp
XM_011511731.1:c.14178A>C XP_011510033.1:p.Glu4726Asp
XM_017004819.1:c.40221A>C XP_016860308.1:p.Glu13407Asp
XM_017004820.1:c.35619A>C XP_016860309.1:p.Glu11873Asp
XM_017004821.1:c.35616A>C XP_016860310.1:p.Glu11872Asp
XM_017004822.1:c.32658A>C XP_016860311.1:p.Glu10886Asp
XM_017004823.1:c.14274A>C XP_016860312.1:p.Glu4758Asp
XM_024453094.1:c.35769A>C XP_024308862.1:p.Glu11923Asp
XM_024453095.1:c.35766A>C XP_024308863.1:p.Glu11922Asp
XM_024453096.1:c.35199A>C XP_024308864.1:p.Glu11733Asp
XM_024453097.1:c.32541A>C XP_024308865.1:p.Glu10847Asp
XM_024453098.1:c.32460A>C XP_024308866.1:p.Glu10820Asp
XM_024453099.1:c.14223A>C XP_024308867.1:p.Glu4741Asp
XM_024453100.1:c.4077A>C XP_024308868.1:p.Glu1359Asp