Canonical Allele Identifier: CA349648311

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573980G>T , CM000664.2:g.178573980G>T GRCh38
NC_000002.11:g.179438707G>T , CM000664.1:g.179438707G>T GRCh37
NC_000002.10:g.179146953G>T NCBI36
NG_011618.3:g.261823C>A , LRG_391:g.261823C>A
NG_051363.1:g.56154G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64448C>A (TTN) ENSP00000343764.6:p.Ala21483Asp
ENST00000342175.11:c.45533C>A (TTN) ENSP00000340554.6:p.Ala15178Asp
ENST00000359218.10:c.45332C>A (TTN) ENSP00000352154.5:p.Ala15111Asp
ENST00000342175.10:c.45533C>A (TTN) ENSP00000340554.6:p.Ala15178Asp
ENST00000342992.10:c.64448C>A (TTN) ENSP00000343764.6:p.Ala21483Asp
ENST00000359218.9:c.45332C>A (TTN) ENSP00000352154.5:p.Ala15111Asp
ENST00000460472.6:c.44957C>A (TTN) ENSP00000434586.1:p.Ala14986Asp
ENST00000589042.5:c.72152C>A (TTN) MANE Select ENSP00000467141.1:p.Ala24051Asp
ENST00000591111.5:c.67229C>A (TTN) ENSP00000465570.1:p.Ala22410Asp
ENST00000615779.4:c.67229C>A (TTN) ENSP00000483597.1:p.Ala22410Asp
NM_001256850.1:c.67229C>A (TTN) NP_001243779.1:p.Ala22410Asp
NM_001267550.2:c.72152C>A (TTN) MANE Select NP_001254479.2:p.Ala24051Asp
NM_003319.4:c.44957C>A (TTN) NP_003310.4:p.Ala14986Asp
NM_133378.4:c.64448C>A (TTN) NP_596869.4:p.Ala21483Asp
NM_133432.3:c.45332C>A (TTN) NP_597676.3:p.Ala15111Asp
NM_133437.4:c.45533C>A (TTN) NP_597681.4:p.Ala15178Asp
NR_038271.1:n.596+2531G>T (TTN-AS1)
NR_038272.1:n.2044-8592G>T (TTN-AS1)
XM_011511729.1:c.71249C>A (TTN) XP_011510031.1:p.Ala23750Asp
XM_011511730.1:c.45143C>A (TTN) XP_011510032.1:p.Ala15048Asp
XM_011511731.1:c.45002C>A (TTN) XP_011510033.1:p.Ala15001Asp
XM_017004819.1:c.71045C>A (TTN) XP_016860308.1:p.Ala23682Asp
XM_017004820.1:c.66443C>A (TTN) XP_016860309.1:p.Ala22148Asp
XM_017004821.1:c.66440C>A (TTN) XP_016860310.1:p.Ala22147Asp
XM_017004822.1:c.63482C>A (TTN) XP_016860311.1:p.Ala21161Asp
XM_017004823.1:c.45098C>A (TTN) XP_016860312.1:p.Ala15033Asp
XM_024453094.1:c.66593C>A (TTN) XP_024308862.1:p.Ala22198Asp
XM_024453095.1:c.66590C>A (TTN) XP_024308863.1:p.Ala22197Asp
XM_024453096.1:c.66023C>A (TTN) XP_024308864.1:p.Ala22008Asp
XM_024453097.1:c.63365C>A (TTN) XP_024308865.1:p.Ala21122Asp
XM_024453098.1:c.63284C>A (TTN) XP_024308866.1:p.Ala21095Asp
XM_024453099.1:c.45047C>A (TTN) XP_024308867.1:p.Ala15016Asp
XM_024453100.1:c.34901C>A (TTN) XP_024308868.1:p.Ala11634Asp