Canonical Allele Identifier: CA349406713

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530428T>C , CM000664.2:g.178530428T>C GRCh38
NC_000002.11:g.179395155T>C , CM000664.1:g.179395155T>C GRCh37
NC_000002.10:g.179103401T>C NCBI36
NG_011618.3:g.305375A>G , LRG_391:g.305375A>G
NG_051363.1:g.12602T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98483A>G (TTN) ENSP00000343764.6:p.Asp32828Gly
ENST00000342175.11:c.79568A>G (TTN) ENSP00000340554.6:p.Asp26523Gly
ENST00000359218.10:c.79367A>G (TTN) ENSP00000352154.5:p.Asp26456Gly
ENST00000342175.10:c.79568A>G (TTN) ENSP00000340554.6:p.Asp26523Gly
ENST00000342992.10:c.98483A>G (TTN) ENSP00000343764.6:p.Asp32828Gly
ENST00000359218.9:c.79367A>G (TTN) ENSP00000352154.5:p.Asp26456Gly
ENST00000460472.6:c.78992A>G (TTN) ENSP00000434586.1:p.Asp26331Gly
ENST00000589042.5:c.106187A>G (TTN) MANE Select ENSP00000467141.1:p.Asp35396Gly
ENST00000591111.5:c.101264A>G (TTN) ENSP00000465570.1:p.Asp33755Gly
ENST00000615779.4:c.101264A>G (TTN) ENSP00000483597.1:p.Asp33755Gly
NM_001256850.1:c.101264A>G (TTN) NP_001243779.1:p.Asp33755Gly
NM_001267550.2:c.106187A>G (TTN) MANE Select NP_001254479.2:p.Asp35396Gly
NM_003319.4:c.78992A>G (TTN) NP_003310.4:p.Asp26331Gly
NM_133378.4:c.98483A>G (TTN) NP_596869.4:p.Asp32828Gly
NM_133432.3:c.79367A>G (TTN) NP_597676.3:p.Asp26456Gly
NM_133437.4:c.79568A>G (TTN) NP_597681.4:p.Asp26523Gly
NR_038271.1:n.446+6792T>C (TTN-AS1)
NR_038272.1:n.220-5304T>C (TTN-AS1)
XM_011511729.1:c.105284A>G (TTN) XP_011510031.1:p.Asp35095Gly
XM_011511730.1:c.79178A>G (TTN) XP_011510032.1:p.Asp26393Gly
XM_011511731.1:c.79037A>G (TTN) XP_011510033.1:p.Asp26346Gly
XM_017004819.1:c.105080A>G (TTN) XP_016860308.1:p.Asp35027Gly
XM_017004820.1:c.100478A>G (TTN) XP_016860309.1:p.Asp33493Gly
XM_017004821.1:c.100475A>G (TTN) XP_016860310.1:p.Asp33492Gly
XM_017004822.1:c.97517A>G (TTN) XP_016860311.1:p.Asp32506Gly
XM_017004823.1:c.79133A>G (TTN) XP_016860312.1:p.Asp26378Gly
XM_024453094.1:c.100628A>G (TTN) XP_024308862.1:p.Asp33543Gly
XM_024453095.1:c.100625A>G (TTN) XP_024308863.1:p.Asp33542Gly
XM_024453096.1:c.100058A>G (TTN) XP_024308864.1:p.Asp33353Gly
XM_024453097.1:c.97400A>G (TTN) XP_024308865.1:p.Asp32467Gly
XM_024453098.1:c.97319A>G (TTN) XP_024308866.1:p.Asp32440Gly
XM_024453099.1:c.79082A>G (TTN) XP_024308867.1:p.Asp26361Gly
XM_024453100.1:c.68936A>G (TTN) XP_024308868.1:p.Asp22979Gly