Canonical Allele Identifier: CA349533663
Community Standard Title: NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178599644G>A , CM000664.2:g.178599644G>A GRCh38
NC_000002.11:g.179464371G>A , CM000664.1:g.179464371G>A GRCh37
NC_000002.10:g.179172616G>A NCBI36
NG_011618.3:g.236159C>T , LRG_391:g.236159C>T
NG_051363.1:g.81818G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.56257C>T (TTN) MANE Select NP_001254479.2:p.Gln18753Ter
ENST00000589042.5:c.56257C>T (TTN) MANE Select ENSP00000467141.1:p.Gln18753Ter
NM_001256850.1:c.51334C>T (TTN) NP_001243779.1:p.Gln17112Ter
NM_003319.4:c.29062C>T (TTN) NP_003310.4:p.Gln9688Ter
NM_133378.4:c.48553C>T (TTN) NP_596869.4:p.Gln16185Ter
NM_133432.3:c.29437C>T (TTN) NP_597676.3:p.Gln9813Ter
NM_133437.4:c.29638C>T (TTN) NP_597681.4:p.Gln9880Ter
NR_038271.1:n.682+1963G>A (TTN-AS1)
NR_038272.1:n.3619G>A (TTN-AS1)
ENST00000342175.10:c.29638C>T (TTN) ENSP00000340554.6:p.Gln9880Ter
ENST00000342175.11:c.29638C>T (TTN) ENSP00000340554.6:p.Gln9880Ter
ENST00000342992.10:c.48553C>T (TTN) ENSP00000343764.6:p.Gln16185Ter
ENST00000342992.11:c.48553C>T (TTN) ENSP00000343764.6:p.Gln16185Ter
ENST00000359218.10:c.29437C>T (TTN) ENSP00000352154.5:p.Gln9813Ter
ENST00000359218.9:c.29437C>T (TTN) ENSP00000352154.5:p.Gln9813Ter
ENST00000460472.6:c.29062C>T (TTN) ENSP00000434586.1:p.Gln9688Ter
ENST00000591111.5:c.51334C>T (TTN) ENSP00000465570.1:p.Gln17112Ter
ENST00000615779.4:c.51334C>T (TTN) ENSP00000483597.1:p.Gln17112Ter
XM_011511729.1:c.55354C>T (TTN) XP_011510031.1:p.Gln18452Ter
XM_011511730.1:c.29248C>T (TTN) XP_011510032.1:p.Gln9750Ter
XM_011511731.1:c.29107C>T (TTN) XP_011510033.1:p.Gln9703Ter
XM_017004819.1:c.55150C>T (TTN) XP_016860308.1:p.Gln18384Ter
XM_017004820.1:c.50548C>T (TTN) XP_016860309.1:p.Gln16850Ter
XM_017004821.1:c.50545C>T (TTN) XP_016860310.1:p.Gln16849Ter
XM_017004822.1:c.47587C>T (TTN) XP_016860311.1:p.Gln15863Ter
XM_017004823.1:c.29203C>T (TTN) XP_016860312.1:p.Gln9735Ter
XM_024453094.1:c.50698C>T (TTN) XP_024308862.1:p.Gln16900Ter
XM_024453095.1:c.50695C>T (TTN) XP_024308863.1:p.Gln16899Ter
XM_024453096.1:c.50128C>T (TTN) XP_024308864.1:p.Gln16710Ter
XM_024453097.1:c.47470C>T (TTN) XP_024308865.1:p.Gln15824Ter
XM_024453098.1:c.47389C>T (TTN) XP_024308866.1:p.Gln15797Ter
XM_024453099.1:c.29152C>T (TTN) XP_024308867.1:p.Gln9718Ter
XM_024453100.1:c.19006C>T (TTN) XP_024308868.1:p.Gln6336Ter