Canonical Allele Identifier: CA349664414
Community Standard Title: NM_001267550.2(TTN):c.40576G>T (p.Glu13526Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178641298C>A , CM000664.2:g.178641298C>A GRCh38
NC_000002.11:g.179506025C>A , CM000664.1:g.179506025C>A GRCh37
NC_000002.10:g.179214270C>A NCBI36
NG_011618.3:g.194505G>T , LRG_391:g.194505G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.40576G>T MANE Select NP_001254479.2:p.Glu13526Ter
ENST00000589042.5:c.40576G>T MANE Select ENSP00000467141.1:p.Glu13526Ter
NM_001256850.1:c.35653G>T NP_001243779.1:p.Glu11885Ter
NM_003319.4:c.13381G>T NP_003310.4:p.Glu4461Ter
NM_133378.4:c.32872G>T NP_596869.4:p.Glu10958Ter
NM_133432.3:c.13756G>T NP_597676.3:p.Glu4586Ter
NM_133437.4:c.13957G>T NP_597681.4:p.Glu4653Ter
ENST00000342175.10:c.13957G>T ENSP00000340554.6:p.Glu4653Ter
ENST00000342175.11:c.13957G>T ENSP00000340554.6:p.Glu4653Ter
ENST00000342992.10:c.32872G>T ENSP00000343764.6:p.Glu10958Ter
ENST00000342992.11:c.32872G>T ENSP00000343764.6:p.Glu10958Ter
ENST00000359218.10:c.13756G>T ENSP00000352154.5:p.Glu4586Ter
ENST00000359218.9:c.13756G>T ENSP00000352154.5:p.Glu4586Ter
ENST00000414766.5:c.2539G>T ENSP00000401501.1:p.Glu847Ter
ENST00000426232.5:c.597-668G>T
ENST00000446966.1:c.995-668G>T ENSP00000408004.1:n.995-668G>T
ENST00000460472.6:c.13381G>T ENSP00000434586.1:p.Glu4461Ter
ENST00000591111.5:c.35653G>T ENSP00000465570.1:p.Glu11885Ter
ENST00000615779.4:c.35653G>T ENSP00000483597.1:p.Glu11885Ter
XM_011511729.1:c.39673G>T XP_011510031.1:p.Glu13225Ter
XM_011511730.1:c.13567G>T XP_011510032.1:p.Glu4523Ter
XM_011511731.1:c.13426G>T XP_011510033.1:p.Glu4476Ter
XM_017004819.1:c.39469G>T XP_016860308.1:p.Glu13157Ter
XM_017004820.1:c.34867G>T XP_016860309.1:p.Glu11623Ter
XM_017004821.1:c.34864G>T XP_016860310.1:p.Glu11622Ter
XM_017004822.1:c.31957G>T XP_016860311.1:p.Glu10653Ter
XM_017004823.1:c.13522G>T XP_016860312.1:p.Glu4508Ter
XM_024453094.1:c.35017G>T XP_024308862.1:p.Glu11673Ter
XM_024453095.1:c.35014G>T XP_024308863.1:p.Glu11672Ter
XM_024453096.1:c.34447G>T XP_024308864.1:p.Glu11483Ter
XM_024453097.1:c.31789G>T XP_024308865.1:p.Glu10597Ter
XM_024453098.1:c.31708G>T XP_024308866.1:p.Glu10570Ter
XM_024453099.1:c.13522G>T XP_024308867.1:p.Glu4508Ter
XM_024453100.1:c.3325G>T XP_024308868.1:p.Glu1109Ter