Canonical Allele Identifier: CA349423340

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579570C>G , CM000664.2:g.178579570C>G GRCh38
NC_000002.11:g.179444297C>G , CM000664.1:g.179444297C>G GRCh37
NC_000002.10:g.179152543C>G NCBI36
NG_011618.3:g.256233G>C , LRG_391:g.256233G>C
NG_051363.1:g.61744C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.59923G>C (TTN) ENSP00000343764.6:p.Asp19975His
ENST00000342175.11:c.41008G>C (TTN) ENSP00000340554.6:p.Asp13670His
ENST00000359218.10:c.40807G>C (TTN) ENSP00000352154.5:p.Asp13603His
ENST00000342175.10:c.41008G>C (TTN) ENSP00000340554.6:p.Asp13670His
ENST00000342992.10:c.59923G>C (TTN) ENSP00000343764.6:p.Asp19975His
ENST00000359218.9:c.40807G>C (TTN) ENSP00000352154.5:p.Asp13603His
ENST00000460472.6:c.40432G>C (TTN) ENSP00000434586.1:p.Asp13478His
ENST00000589042.5:c.67627G>C (TTN) MANE Select ENSP00000467141.1:p.Asp22543His
ENST00000591111.5:c.62704G>C (TTN) ENSP00000465570.1:p.Asp20902His
ENST00000615779.4:c.62704G>C (TTN) ENSP00000483597.1:p.Asp20902His
NM_001256850.1:c.62704G>C (TTN) NP_001243779.1:p.Asp20902His
NM_001267550.2:c.67627G>C (TTN) MANE Select NP_001254479.2:p.Asp22543His
NM_003319.4:c.40432G>C (TTN) NP_003310.4:p.Asp13478His
NM_133378.4:c.59923G>C (TTN) NP_596869.4:p.Asp19975His
NM_133432.3:c.40807G>C (TTN) NP_597676.3:p.Asp13603His
NM_133437.4:c.41008G>C (TTN) NP_597681.4:p.Asp13670His
NR_038271.1:n.596+8121C>G (TTN-AS1)
NR_038272.1:n.2044-3002C>G (TTN-AS1)
XM_011511729.1:c.66724G>C (TTN) XP_011510031.1:p.Asp22242His
XM_011511730.1:c.40618G>C (TTN) XP_011510032.1:p.Asp13540His
XM_011511731.1:c.40477G>C (TTN) XP_011510033.1:p.Asp13493His
XM_017004819.1:c.66520G>C (TTN) XP_016860308.1:p.Asp22174His
XM_017004820.1:c.61918G>C (TTN) XP_016860309.1:p.Asp20640His
XM_017004821.1:c.61915G>C (TTN) XP_016860310.1:p.Asp20639His
XM_017004822.1:c.58957G>C (TTN) XP_016860311.1:p.Asp19653His
XM_017004823.1:c.40573G>C (TTN) XP_016860312.1:p.Asp13525His
XM_024453094.1:c.62068G>C (TTN) XP_024308862.1:p.Asp20690His
XM_024453095.1:c.62065G>C (TTN) XP_024308863.1:p.Asp20689His
XM_024453096.1:c.61498G>C (TTN) XP_024308864.1:p.Asp20500His
XM_024453097.1:c.58840G>C (TTN) XP_024308865.1:p.Asp19614His
XM_024453098.1:c.58759G>C (TTN) XP_024308866.1:p.Asp19587His
XM_024453099.1:c.40522G>C (TTN) XP_024308867.1:p.Asp13508His
XM_024453100.1:c.30376G>C (TTN) XP_024308868.1:p.Asp10126His