Canonical Allele Identifier: CA349405254

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530051A>T , CM000664.2:g.178530051A>T GRCh38
NC_000002.11:g.179394778A>T , CM000664.1:g.179394778A>T GRCh37
NC_000002.10:g.179103024A>T NCBI36
NG_011618.3:g.305752T>A , LRG_391:g.305752T>A
NG_051363.1:g.12225A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98736T>A (TTN) ENSP00000343764.6:p.His32912Gln
ENST00000342175.11:c.79821T>A (TTN) ENSP00000340554.6:p.His26607Gln
ENST00000359218.10:c.79620T>A (TTN) ENSP00000352154.5:p.His26540Gln
ENST00000342175.10:c.79821T>A (TTN) ENSP00000340554.6:p.His26607Gln
ENST00000342992.10:c.98736T>A (TTN) ENSP00000343764.6:p.His32912Gln
ENST00000359218.9:c.79620T>A (TTN) ENSP00000352154.5:p.His26540Gln
ENST00000460472.6:c.79245T>A (TTN) ENSP00000434586.1:p.His26415Gln
ENST00000589042.5:c.106440T>A (TTN) MANE Select ENSP00000467141.1:p.His35480Gln
ENST00000591111.5:c.101517T>A (TTN) ENSP00000465570.1:p.His33839Gln
ENST00000615779.4:c.101517T>A (TTN) ENSP00000483597.1:p.His33839Gln
NM_001256850.1:c.101517T>A (TTN) NP_001243779.1:p.His33839Gln
NM_001267550.2:c.106440T>A (TTN) MANE Select NP_001254479.2:p.His35480Gln
NM_003319.4:c.79245T>A (TTN) NP_003310.4:p.His26415Gln
NM_133378.4:c.98736T>A (TTN) NP_596869.4:p.His32912Gln
NM_133432.3:c.79620T>A (TTN) NP_597676.3:p.His26540Gln
NM_133437.4:c.79821T>A (TTN) NP_597681.4:p.His26607Gln
NR_038271.1:n.446+6415A>T (TTN-AS1)
NR_038272.1:n.220-5681A>T (TTN-AS1)
XM_011511729.1:c.105537T>A (TTN) XP_011510031.1:p.His35179Gln
XM_011511730.1:c.79431T>A (TTN) XP_011510032.1:p.His26477Gln
XM_011511731.1:c.79290T>A (TTN) XP_011510033.1:p.His26430Gln
XM_017004819.1:c.105333T>A (TTN) XP_016860308.1:p.His35111Gln
XM_017004820.1:c.100731T>A (TTN) XP_016860309.1:p.His33577Gln
XM_017004821.1:c.100728T>A (TTN) XP_016860310.1:p.His33576Gln
XM_017004822.1:c.97770T>A (TTN) XP_016860311.1:p.His32590Gln
XM_017004823.1:c.79386T>A (TTN) XP_016860312.1:p.His26462Gln
XM_024453094.1:c.100881T>A (TTN) XP_024308862.1:p.His33627Gln
XM_024453095.1:c.100878T>A (TTN) XP_024308863.1:p.His33626Gln
XM_024453096.1:c.100311T>A (TTN) XP_024308864.1:p.His33437Gln
XM_024453097.1:c.97653T>A (TTN) XP_024308865.1:p.His32551Gln
XM_024453098.1:c.97572T>A (TTN) XP_024308866.1:p.His32524Gln
XM_024453099.1:c.79335T>A (TTN) XP_024308867.1:p.His26445Gln
XM_024453100.1:c.69189T>A (TTN) XP_024308868.1:p.His23063Gln