Canonical Allele Identifier: CA349565647

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607426A>T , CM000664.2:g.178607426A>T GRCh38
NC_000002.11:g.179472153A>T , CM000664.1:g.179472153A>T GRCh37
NC_000002.10:g.179180398A>T NCBI36
NG_011618.3:g.228377T>A , LRG_391:g.228377T>A
NG_051363.1:g.89600A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.45558T>A (TTN) ENSP00000343764.6:p.Phe15186Leu
ENST00000342175.11:c.26643T>A (TTN) ENSP00000340554.6:p.Phe8881Leu
ENST00000359218.10:c.26442T>A (TTN) ENSP00000352154.5:p.Phe8814Leu
ENST00000342175.10:c.26643T>A (TTN) ENSP00000340554.6:p.Phe8881Leu
ENST00000342992.10:c.45558T>A (TTN) ENSP00000343764.6:p.Phe15186Leu
ENST00000359218.9:c.26442T>A (TTN) ENSP00000352154.5:p.Phe8814Leu
ENST00000460472.6:c.26067T>A (TTN) ENSP00000434586.1:p.Phe8689Leu
ENST00000589042.5:c.53262T>A (TTN) MANE Select ENSP00000467141.1:p.Phe17754Leu
ENST00000591111.5:c.48339T>A (TTN) ENSP00000465570.1:p.Phe16113Leu
ENST00000615779.4:c.48339T>A (TTN) ENSP00000483597.1:p.Phe16113Leu
NM_001256850.1:c.48339T>A (TTN) NP_001243779.1:p.Phe16113Leu
NM_001267550.2:c.53262T>A (TTN) MANE Select NP_001254479.2:p.Phe17754Leu
NM_003319.4:c.26067T>A (TTN) NP_003310.4:p.Phe8689Leu
NM_133378.4:c.45558T>A (TTN) NP_596869.4:p.Phe15186Leu
NM_133432.3:c.26442T>A (TTN) NP_597676.3:p.Phe8814Leu
NM_133437.4:c.26643T>A (TTN) NP_597681.4:p.Phe8881Leu
NR_038271.1:n.683-741A>T (TTN-AS1)
XM_011511729.1:c.52359T>A (TTN) XP_011510031.1:p.Phe17453Leu
XM_011511730.1:c.26253T>A (TTN) XP_011510032.1:p.Phe8751Leu
XM_011511731.1:c.26112T>A (TTN) XP_011510033.1:p.Phe8704Leu
XM_017004819.1:c.52155T>A (TTN) XP_016860308.1:p.Phe17385Leu
XM_017004820.1:c.47553T>A (TTN) XP_016860309.1:p.Phe15851Leu
XM_017004821.1:c.47550T>A (TTN) XP_016860310.1:p.Phe15850Leu
XM_017004822.1:c.44592T>A (TTN) XP_016860311.1:p.Phe14864Leu
XM_017004823.1:c.26208T>A (TTN) XP_016860312.1:p.Phe8736Leu
XM_024453094.1:c.47703T>A (TTN) XP_024308862.1:p.Phe15901Leu
XM_024453095.1:c.47700T>A (TTN) XP_024308863.1:p.Phe15900Leu
XM_024453096.1:c.47133T>A (TTN) XP_024308864.1:p.Phe15711Leu
XM_024453097.1:c.44475T>A (TTN) XP_024308865.1:p.Phe14825Leu
XM_024453098.1:c.44394T>A (TTN) XP_024308866.1:p.Phe14798Leu
XM_024453099.1:c.26157T>A (TTN) XP_024308867.1:p.Phe8719Leu
XM_024453100.1:c.16011T>A (TTN) XP_024308868.1:p.Phe5337Leu