Canonical Allele Identifier: CA349665929

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178576231A>G , CM000664.2:g.178576231A>G GRCh38
NC_000002.11:g.179440958A>G , CM000664.1:g.179440958A>G GRCh37
NC_000002.10:g.179149204A>G NCBI36
NG_011618.3:g.259572T>C , LRG_391:g.259572T>C
NG_051363.1:g.58405A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.62197T>C (TTN) ENSP00000343764.6:p.Phe20733Leu
ENST00000342175.11:c.43282T>C (TTN) ENSP00000340554.6:p.Phe14428Leu
ENST00000359218.10:c.43081T>C (TTN) ENSP00000352154.5:p.Phe14361Leu
ENST00000342175.10:c.43282T>C (TTN) ENSP00000340554.6:p.Phe14428Leu
ENST00000342992.10:c.62197T>C (TTN) ENSP00000343764.6:p.Phe20733Leu
ENST00000359218.9:c.43081T>C (TTN) ENSP00000352154.5:p.Phe14361Leu
ENST00000460472.6:c.42706T>C (TTN) ENSP00000434586.1:p.Phe14236Leu
ENST00000589042.5:c.69901T>C (TTN) MANE Select ENSP00000467141.1:p.Phe23301Leu
ENST00000591111.5:c.64978T>C (TTN) ENSP00000465570.1:p.Phe21660Leu
ENST00000615779.4:c.64978T>C (TTN) ENSP00000483597.1:p.Phe21660Leu
NM_001256850.1:c.64978T>C (TTN) NP_001243779.1:p.Phe21660Leu
NM_001267550.2:c.69901T>C (TTN) MANE Select NP_001254479.2:p.Phe23301Leu
NM_003319.4:c.42706T>C (TTN) NP_003310.4:p.Phe14236Leu
NM_133378.4:c.62197T>C (TTN) NP_596869.4:p.Phe20733Leu
NM_133432.3:c.43081T>C (TTN) NP_597676.3:p.Phe14361Leu
NM_133437.4:c.43282T>C (TTN) NP_597681.4:p.Phe14428Leu
NR_038271.1:n.596+4782A>G (TTN-AS1)
NR_038272.1:n.2044-6341A>G (TTN-AS1)
XM_011511729.1:c.68998T>C (TTN) XP_011510031.1:p.Phe23000Leu
XM_011511730.1:c.42892T>C (TTN) XP_011510032.1:p.Phe14298Leu
XM_011511731.1:c.42751T>C (TTN) XP_011510033.1:p.Phe14251Leu
XM_017004819.1:c.68794T>C (TTN) XP_016860308.1:p.Phe22932Leu
XM_017004820.1:c.64192T>C (TTN) XP_016860309.1:p.Phe21398Leu
XM_017004821.1:c.64189T>C (TTN) XP_016860310.1:p.Phe21397Leu
XM_017004822.1:c.61231T>C (TTN) XP_016860311.1:p.Phe20411Leu
XM_017004823.1:c.42847T>C (TTN) XP_016860312.1:p.Phe14283Leu
XM_024453094.1:c.64342T>C (TTN) XP_024308862.1:p.Phe21448Leu
XM_024453095.1:c.64339T>C (TTN) XP_024308863.1:p.Phe21447Leu
XM_024453096.1:c.63772T>C (TTN) XP_024308864.1:p.Phe21258Leu
XM_024453097.1:c.61114T>C (TTN) XP_024308865.1:p.Phe20372Leu
XM_024453098.1:c.61033T>C (TTN) XP_024308866.1:p.Phe20345Leu
XM_024453099.1:c.42796T>C (TTN) XP_024308867.1:p.Phe14266Leu
XM_024453100.1:c.32650T>C (TTN) XP_024308868.1:p.Phe10884Leu