Canonical Allele Identifier: CA349660627
Community Standard Title: NM_001267550.2(TTN):c.41326G>T (p.Glu13776Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.41326G>T MANE Select NP_001254479.2:p.Glu13776Ter
ENST00000589042.5:c.41326G>T MANE Select ENSP00000467141.1:p.Glu13776Ter
NM_001256850.1:c.36403G>T NP_001243779.1:p.Glu12135Ter
NM_003319.4:c.14131G>T NP_003310.4:p.Glu4711Ter
NM_133378.4:c.33622G>T NP_596869.4:p.Glu11208Ter
NM_133432.3:c.14506G>T NP_597676.3:p.Glu4836Ter
NM_133437.4:c.14707G>T NP_597681.4:p.Glu4903Ter
ENST00000342175.10:c.14707G>T ENSP00000340554.6:p.Glu4903Ter
ENST00000342175.11:c.14707G>T ENSP00000340554.6:p.Glu4903Ter
ENST00000342992.10:c.33622G>T ENSP00000343764.6:p.Glu11208Ter
ENST00000342992.11:c.33622G>T ENSP00000343764.6:p.Glu11208Ter
ENST00000359218.10:c.14506G>T ENSP00000352154.5:p.Glu4836Ter
ENST00000359218.9:c.14506G>T ENSP00000352154.5:p.Glu4836Ter
ENST00000460472.6:c.14131G>T ENSP00000434586.1:p.Glu4711Ter
ENST00000591111.5:c.36403G>T ENSP00000465570.1:p.Glu12135Ter
ENST00000615779.4:c.36403G>T ENSP00000483597.1:p.Glu12135Ter
XM_011511729.1:c.40423G>T XP_011510031.1:p.Glu13475Ter
XM_011511730.1:c.14317G>T XP_011510032.1:p.Glu4773Ter
XM_011511731.1:c.14176G>T XP_011510033.1:p.Glu4726Ter
XM_017004819.1:c.40219G>T XP_016860308.1:p.Glu13407Ter
XM_017004820.1:c.35617G>T XP_016860309.1:p.Glu11873Ter
XM_017004821.1:c.35614G>T XP_016860310.1:p.Glu11872Ter
XM_017004822.1:c.32656G>T XP_016860311.1:p.Glu10886Ter
XM_017004823.1:c.14272G>T XP_016860312.1:p.Glu4758Ter
XM_024453094.1:c.35767G>T XP_024308862.1:p.Glu11923Ter
XM_024453095.1:c.35764G>T XP_024308863.1:p.Glu11922Ter
XM_024453096.1:c.35197G>T XP_024308864.1:p.Glu11733Ter
XM_024453097.1:c.32539G>T XP_024308865.1:p.Glu10847Ter
XM_024453098.1:c.32458G>T XP_024308866.1:p.Glu10820Ter
XM_024453099.1:c.14221G>T XP_024308867.1:p.Glu4741Ter
XM_024453100.1:c.4075G>T XP_024308868.1:p.Glu1359Ter