Canonical Allele Identifier: CA349660630
Community Standard Title: NM_001267550.2(TTN):c.41326G>A (p.Glu13776Lys)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178636401C>T , CM000664.2:g.178636401C>T GRCh38
NC_000002.11:g.179501128C>T , CM000664.1:g.179501128C>T GRCh37
NC_000002.10:g.179209373C>T NCBI36
NG_011618.3:g.199402G>A , LRG_391:g.199402G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.41326G>A MANE Select NP_001254479.2:p.Glu13776Lys
ENST00000589042.5:c.41326G>A MANE Select ENSP00000467141.1:p.Glu13776Lys
NM_001256850.1:c.36403G>A NP_001243779.1:p.Glu12135Lys
NM_003319.4:c.14131G>A NP_003310.4:p.Glu4711Lys
NM_133378.4:c.33622G>A NP_596869.4:p.Glu11208Lys
NM_133432.3:c.14506G>A NP_597676.3:p.Glu4836Lys
NM_133437.4:c.14707G>A NP_597681.4:p.Glu4903Lys
ENST00000342175.10:c.14707G>A ENSP00000340554.6:p.Glu4903Lys
ENST00000342175.11:c.14707G>A ENSP00000340554.6:p.Glu4903Lys
ENST00000342992.10:c.33622G>A ENSP00000343764.6:p.Glu11208Lys
ENST00000342992.11:c.33622G>A ENSP00000343764.6:p.Glu11208Lys
ENST00000359218.10:c.14506G>A ENSP00000352154.5:p.Glu4836Lys
ENST00000359218.9:c.14506G>A ENSP00000352154.5:p.Glu4836Lys
ENST00000460472.6:c.14131G>A ENSP00000434586.1:p.Glu4711Lys
ENST00000591111.5:c.36403G>A ENSP00000465570.1:p.Glu12135Lys
ENST00000615779.4:c.36403G>A ENSP00000483597.1:p.Glu12135Lys
XM_011511729.1:c.40423G>A XP_011510031.1:p.Glu13475Lys
XM_011511730.1:c.14317G>A XP_011510032.1:p.Glu4773Lys
XM_011511731.1:c.14176G>A XP_011510033.1:p.Glu4726Lys
XM_017004819.1:c.40219G>A XP_016860308.1:p.Glu13407Lys
XM_017004820.1:c.35617G>A XP_016860309.1:p.Glu11873Lys
XM_017004821.1:c.35614G>A XP_016860310.1:p.Glu11872Lys
XM_017004822.1:c.32656G>A XP_016860311.1:p.Glu10886Lys
XM_017004823.1:c.14272G>A XP_016860312.1:p.Glu4758Lys
XM_024453094.1:c.35767G>A XP_024308862.1:p.Glu11923Lys
XM_024453095.1:c.35764G>A XP_024308863.1:p.Glu11922Lys
XM_024453096.1:c.35197G>A XP_024308864.1:p.Glu11733Lys
XM_024453097.1:c.32539G>A XP_024308865.1:p.Glu10847Lys
XM_024453098.1:c.32458G>A XP_024308866.1:p.Glu10820Lys
XM_024453099.1:c.14221G>A XP_024308867.1:p.Glu4741Lys
XM_024453100.1:c.4075G>A XP_024308868.1:p.Glu1359Lys