Canonical Allele Identifier: CA349411887

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532244C>G , CM000664.2:g.178532244C>G GRCh38
NC_000002.11:g.179396971C>G , CM000664.1:g.179396971C>G GRCh37
NC_000002.10:g.179105217C>G NCBI36
NG_011618.3:g.303559G>C , LRG_391:g.303559G>C
NG_051363.1:g.14418C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96667G>C (TTN) ENSP00000343764.6:p.Asp32223His
ENST00000342175.11:c.77752G>C (TTN) ENSP00000340554.6:p.Asp25918His
ENST00000359218.10:c.77551G>C (TTN) ENSP00000352154.5:p.Asp25851His
ENST00000342175.10:c.77752G>C (TTN) ENSP00000340554.6:p.Asp25918His
ENST00000342992.10:c.96667G>C (TTN) ENSP00000343764.6:p.Asp32223His
ENST00000359218.9:c.77551G>C (TTN) ENSP00000352154.5:p.Asp25851His
ENST00000460472.6:c.77176G>C (TTN) ENSP00000434586.1:p.Asp25726His
ENST00000589042.5:c.104371G>C (TTN) MANE Select ENSP00000467141.1:p.Asp34791His
ENST00000591111.5:c.99448G>C (TTN) ENSP00000465570.1:p.Asp33150His
ENST00000615779.4:c.99448G>C (TTN) ENSP00000483597.1:p.Asp33150His
NM_001256850.1:c.99448G>C (TTN) NP_001243779.1:p.Asp33150His
NM_001267550.2:c.104371G>C (TTN) MANE Select NP_001254479.2:p.Asp34791His
NM_003319.4:c.77176G>C (TTN) NP_003310.4:p.Asp25726His
NM_133378.4:c.96667G>C (TTN) NP_596869.4:p.Asp32223His
NM_133432.3:c.77551G>C (TTN) NP_597676.3:p.Asp25851His
NM_133437.4:c.77752G>C (TTN) NP_597681.4:p.Asp25918His
NR_038271.1:n.446+8608C>G (TTN-AS1)
NR_038272.1:n.220-3488C>G (TTN-AS1)
XM_011511729.1:c.103468G>C (TTN) XP_011510031.1:p.Asp34490His
XM_011511730.1:c.77362G>C (TTN) XP_011510032.1:p.Asp25788His
XM_011511731.1:c.77221G>C (TTN) XP_011510033.1:p.Asp25741His
XM_017004819.1:c.103264G>C (TTN) XP_016860308.1:p.Asp34422His
XM_017004820.1:c.98662G>C (TTN) XP_016860309.1:p.Asp32888His
XM_017004821.1:c.98659G>C (TTN) XP_016860310.1:p.Asp32887His
XM_017004822.1:c.95701G>C (TTN) XP_016860311.1:p.Asp31901His
XM_017004823.1:c.77317G>C (TTN) XP_016860312.1:p.Asp25773His
XM_024453094.1:c.98812G>C (TTN) XP_024308862.1:p.Asp32938His
XM_024453095.1:c.98809G>C (TTN) XP_024308863.1:p.Asp32937His
XM_024453096.1:c.98242G>C (TTN) XP_024308864.1:p.Asp32748His
XM_024453097.1:c.95584G>C (TTN) XP_024308865.1:p.Asp31862His
XM_024453098.1:c.95503G>C (TTN) XP_024308866.1:p.Asp31835His
XM_024453099.1:c.77266G>C (TTN) XP_024308867.1:p.Asp25756His
XM_024453100.1:c.67120G>C (TTN) XP_024308868.1:p.Asp22374His