Canonical Allele Identifier: CA349618790

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618215T>A , CM000664.2:g.178618215T>A GRCh38
NC_000002.11:g.179482942T>A , CM000664.1:g.179482942T>A GRCh37
NC_000002.10:g.179191187T>A NCBI36
NG_011618.3:g.217588A>T , LRG_391:g.217588A>T
NG_051363.1:g.100389T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39539A>T (TTN) ENSP00000343764.6:p.Asn13180Ile
ENST00000342175.11:c.20624A>T (TTN) ENSP00000340554.6:p.Asn6875Ile
ENST00000359218.10:c.20423A>T (TTN) ENSP00000352154.5:p.Asn6808Ile
ENST00000342175.10:c.20624A>T (TTN) ENSP00000340554.6:p.Asn6875Ile
ENST00000342992.10:c.39539A>T (TTN) ENSP00000343764.6:p.Asn13180Ile
ENST00000359218.9:c.20423A>T (TTN) ENSP00000352154.5:p.Asn6808Ile
ENST00000460472.6:c.20048A>T (TTN) ENSP00000434586.1:p.Asn6683Ile
ENST00000589042.5:c.47243A>T (TTN) MANE Select ENSP00000467141.1:p.Asn15748Ile
ENST00000591111.5:c.42320A>T (TTN) ENSP00000465570.1:p.Asn14107Ile
ENST00000615779.4:c.42320A>T (TTN) ENSP00000483597.1:p.Asn14107Ile
NM_001256850.1:c.42320A>T (TTN) NP_001243779.1:p.Asn14107Ile
NM_001267550.2:c.47243A>T (TTN) MANE Select NP_001254479.2:p.Asn15748Ile
NM_003319.4:c.20048A>T (TTN) NP_003310.4:p.Asn6683Ile
NM_133378.4:c.39539A>T (TTN) NP_596869.4:p.Asn13180Ile
NM_133432.3:c.20423A>T (TTN) NP_597676.3:p.Asn6808Ile
NM_133437.4:c.20624A>T (TTN) NP_597681.4:p.Asn6875Ile
NR_038271.1:n.1605-1538T>A (TTN-AS1)
XM_011511729.1:c.46340A>T (TTN) XP_011510031.1:p.Asn15447Ile
XM_011511730.1:c.20234A>T (TTN) XP_011510032.1:p.Asn6745Ile
XM_011511731.1:c.20093A>T (TTN) XP_011510033.1:p.Asn6698Ile
XM_017004819.1:c.46136A>T (TTN) XP_016860308.1:p.Asn15379Ile
XM_017004820.1:c.41534A>T (TTN) XP_016860309.1:p.Asn13845Ile
XM_017004821.1:c.41531A>T (TTN) XP_016860310.1:p.Asn13844Ile
XM_017004822.1:c.38573A>T (TTN) XP_016860311.1:p.Asn12858Ile
XM_017004823.1:c.20189A>T (TTN) XP_016860312.1:p.Asn6730Ile
XM_024453094.1:c.41684A>T (TTN) XP_024308862.1:p.Asn13895Ile
XM_024453095.1:c.41681A>T (TTN) XP_024308863.1:p.Asn13894Ile
XM_024453096.1:c.41114A>T (TTN) XP_024308864.1:p.Asn13705Ile
XM_024453097.1:c.38456A>T (TTN) XP_024308865.1:p.Asn12819Ile
XM_024453098.1:c.38375A>T (TTN) XP_024308866.1:p.Asn12792Ile
XM_024453099.1:c.20138A>T (TTN) XP_024308867.1:p.Asn6713Ile
XM_024453100.1:c.9992A>T (TTN) XP_024308868.1:p.Asn3331Ile