Canonical Allele Identifier: CA349407215

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530599T>G , CM000664.2:g.178530599T>G GRCh38
NC_000002.11:g.179395326T>G , CM000664.1:g.179395326T>G GRCh37
NC_000002.10:g.179103572T>G NCBI36
NG_011618.3:g.305204A>C , LRG_391:g.305204A>C
NG_051363.1:g.12773T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98312A>C (TTN) ENSP00000343764.6:p.Asp32771Ala
ENST00000342175.11:c.79397A>C (TTN) ENSP00000340554.6:p.Asp26466Ala
ENST00000359218.10:c.79196A>C (TTN) ENSP00000352154.5:p.Asp26399Ala
ENST00000342175.10:c.79397A>C (TTN) ENSP00000340554.6:p.Asp26466Ala
ENST00000342992.10:c.98312A>C (TTN) ENSP00000343764.6:p.Asp32771Ala
ENST00000359218.9:c.79196A>C (TTN) ENSP00000352154.5:p.Asp26399Ala
ENST00000460472.6:c.78821A>C (TTN) ENSP00000434586.1:p.Asp26274Ala
ENST00000589042.5:c.106016A>C (TTN) MANE Select ENSP00000467141.1:p.Asp35339Ala
ENST00000591111.5:c.101093A>C (TTN) ENSP00000465570.1:p.Asp33698Ala
ENST00000615779.4:c.101093A>C (TTN) ENSP00000483597.1:p.Asp33698Ala
NM_001256850.1:c.101093A>C (TTN) NP_001243779.1:p.Asp33698Ala
NM_001267550.2:c.106016A>C (TTN) MANE Select NP_001254479.2:p.Asp35339Ala
NM_003319.4:c.78821A>C (TTN) NP_003310.4:p.Asp26274Ala
NM_133378.4:c.98312A>C (TTN) NP_596869.4:p.Asp32771Ala
NM_133432.3:c.79196A>C (TTN) NP_597676.3:p.Asp26399Ala
NM_133437.4:c.79397A>C (TTN) NP_597681.4:p.Asp26466Ala
NR_038271.1:n.446+6963T>G (TTN-AS1)
NR_038272.1:n.220-5133T>G (TTN-AS1)
XM_011511729.1:c.105113A>C (TTN) XP_011510031.1:p.Asp35038Ala
XM_011511730.1:c.79007A>C (TTN) XP_011510032.1:p.Asp26336Ala
XM_011511731.1:c.78866A>C (TTN) XP_011510033.1:p.Asp26289Ala
XM_017004819.1:c.104909A>C (TTN) XP_016860308.1:p.Asp34970Ala
XM_017004820.1:c.100307A>C (TTN) XP_016860309.1:p.Asp33436Ala
XM_017004821.1:c.100304A>C (TTN) XP_016860310.1:p.Asp33435Ala
XM_017004822.1:c.97346A>C (TTN) XP_016860311.1:p.Asp32449Ala
XM_017004823.1:c.78962A>C (TTN) XP_016860312.1:p.Asp26321Ala
XM_024453094.1:c.100457A>C (TTN) XP_024308862.1:p.Asp33486Ala
XM_024453095.1:c.100454A>C (TTN) XP_024308863.1:p.Asp33485Ala
XM_024453096.1:c.99887A>C (TTN) XP_024308864.1:p.Asp33296Ala
XM_024453097.1:c.97229A>C (TTN) XP_024308865.1:p.Asp32410Ala
XM_024453098.1:c.97148A>C (TTN) XP_024308866.1:p.Asp32383Ala
XM_024453099.1:c.78911A>C (TTN) XP_024308867.1:p.Asp26304Ala
XM_024453100.1:c.68765A>C (TTN) XP_024308868.1:p.Asp22922Ala