Canonical Allele Identifier: CA349618787

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618214A>T , CM000664.2:g.178618214A>T GRCh38
NC_000002.11:g.179482941A>T , CM000664.1:g.179482941A>T GRCh37
NC_000002.10:g.179191186A>T NCBI36
NG_011618.3:g.217589T>A , LRG_391:g.217589T>A
NG_051363.1:g.100388A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39540T>A (TTN) ENSP00000343764.6:p.Asn13180Lys
ENST00000342175.11:c.20625T>A (TTN) ENSP00000340554.6:p.Asn6875Lys
ENST00000359218.10:c.20424T>A (TTN) ENSP00000352154.5:p.Asn6808Lys
ENST00000342175.10:c.20625T>A (TTN) ENSP00000340554.6:p.Asn6875Lys
ENST00000342992.10:c.39540T>A (TTN) ENSP00000343764.6:p.Asn13180Lys
ENST00000359218.9:c.20424T>A (TTN) ENSP00000352154.5:p.Asn6808Lys
ENST00000460472.6:c.20049T>A (TTN) ENSP00000434586.1:p.Asn6683Lys
ENST00000589042.5:c.47244T>A (TTN) MANE Select ENSP00000467141.1:p.Asn15748Lys
ENST00000591111.5:c.42321T>A (TTN) ENSP00000465570.1:p.Asn14107Lys
ENST00000615779.4:c.42321T>A (TTN) ENSP00000483597.1:p.Asn14107Lys
NM_001256850.1:c.42321T>A (TTN) NP_001243779.1:p.Asn14107Lys
NM_001267550.2:c.47244T>A (TTN) MANE Select NP_001254479.2:p.Asn15748Lys
NM_003319.4:c.20049T>A (TTN) NP_003310.4:p.Asn6683Lys
NM_133378.4:c.39540T>A (TTN) NP_596869.4:p.Asn13180Lys
NM_133432.3:c.20424T>A (TTN) NP_597676.3:p.Asn6808Lys
NM_133437.4:c.20625T>A (TTN) NP_597681.4:p.Asn6875Lys
NR_038271.1:n.1605-1539A>T (TTN-AS1)
XM_011511729.1:c.46341T>A (TTN) XP_011510031.1:p.Asn15447Lys
XM_011511730.1:c.20235T>A (TTN) XP_011510032.1:p.Asn6745Lys
XM_011511731.1:c.20094T>A (TTN) XP_011510033.1:p.Asn6698Lys
XM_017004819.1:c.46137T>A (TTN) XP_016860308.1:p.Asn15379Lys
XM_017004820.1:c.41535T>A (TTN) XP_016860309.1:p.Asn13845Lys
XM_017004821.1:c.41532T>A (TTN) XP_016860310.1:p.Asn13844Lys
XM_017004822.1:c.38574T>A (TTN) XP_016860311.1:p.Asn12858Lys
XM_017004823.1:c.20190T>A (TTN) XP_016860312.1:p.Asn6730Lys
XM_024453094.1:c.41685T>A (TTN) XP_024308862.1:p.Asn13895Lys
XM_024453095.1:c.41682T>A (TTN) XP_024308863.1:p.Asn13894Lys
XM_024453096.1:c.41115T>A (TTN) XP_024308864.1:p.Asn13705Lys
XM_024453097.1:c.38457T>A (TTN) XP_024308865.1:p.Asn12819Lys
XM_024453098.1:c.38376T>A (TTN) XP_024308866.1:p.Asn12792Lys
XM_024453099.1:c.20139T>A (TTN) XP_024308867.1:p.Asn6713Lys
XM_024453100.1:c.9993T>A (TTN) XP_024308868.1:p.Asn3331Lys