Canonical Allele Identifier: CA349459662

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545470C>A , CM000664.2:g.178545470C>A GRCh38
NC_000002.11:g.179410197C>A , CM000664.1:g.179410197C>A GRCh37
NC_000002.10:g.179118443C>A NCBI36
NG_011618.3:g.290333G>T , LRG_391:g.290333G>T
NG_051363.1:g.27644C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87936G>T (TTN) ENSP00000343764.6:p.Gln29312His
ENST00000342175.11:c.69021G>T (TTN) ENSP00000340554.6:p.Gln23007His
ENST00000359218.10:c.68820G>T (TTN) ENSP00000352154.5:p.Gln22940His
ENST00000342175.10:c.69021G>T (TTN) ENSP00000340554.6:p.Gln23007His
ENST00000342992.10:c.87936G>T (TTN) ENSP00000343764.6:p.Gln29312His
ENST00000359218.9:c.68820G>T (TTN) ENSP00000352154.5:p.Gln22940His
ENST00000460472.6:c.68445G>T (TTN) ENSP00000434586.1:p.Gln22815His
ENST00000589042.5:c.95640G>T (TTN) MANE Select ENSP00000467141.1:p.Gln31880His
ENST00000591111.5:c.90717G>T (TTN) ENSP00000465570.1:p.Gln30239His
ENST00000615779.4:c.90717G>T (TTN) ENSP00000483597.1:p.Gln30239His
NM_001256850.1:c.90717G>T (TTN) NP_001243779.1:p.Gln30239His
NM_001267550.2:c.95640G>T (TTN) MANE Select NP_001254479.2:p.Gln31880His
NM_003319.4:c.68445G>T (TTN) NP_003310.4:p.Gln22815His
NM_133378.4:c.87936G>T (TTN) NP_596869.4:p.Gln29312His
NM_133432.3:c.68820G>T (TTN) NP_597676.3:p.Gln22940His
NM_133437.4:c.69021G>T (TTN) NP_597681.4:p.Gln23007His
NR_038271.1:n.446+21834C>A (TTN-AS1)
NR_038272.1:n.2043+3109C>A (TTN-AS1)
XM_011511729.1:c.94737G>T (TTN) XP_011510031.1:p.Gln31579His
XM_011511730.1:c.68631G>T (TTN) XP_011510032.1:p.Gln22877His
XM_011511731.1:c.68490G>T (TTN) XP_011510033.1:p.Gln22830His
XM_017004819.1:c.94533G>T (TTN) XP_016860308.1:p.Gln31511His
XM_017004820.1:c.89931G>T (TTN) XP_016860309.1:p.Gln29977His
XM_017004821.1:c.89928G>T (TTN) XP_016860310.1:p.Gln29976His
XM_017004822.1:c.86970G>T (TTN) XP_016860311.1:p.Gln28990His
XM_017004823.1:c.68586G>T (TTN) XP_016860312.1:p.Gln22862His
XM_024453094.1:c.90081G>T (TTN) XP_024308862.1:p.Gln30027His
XM_024453095.1:c.90078G>T (TTN) XP_024308863.1:p.Gln30026His
XM_024453096.1:c.89511G>T (TTN) XP_024308864.1:p.Gln29837His
XM_024453097.1:c.86853G>T (TTN) XP_024308865.1:p.Gln28951His
XM_024453098.1:c.86772G>T (TTN) XP_024308866.1:p.Gln28924His
XM_024453099.1:c.68535G>T (TTN) XP_024308867.1:p.Gln22845His
XM_024453100.1:c.58389G>T (TTN) XP_024308868.1:p.Gln19463His