Canonical Allele Identifier: CA349618799

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618216T>C , CM000664.2:g.178618216T>C GRCh38
NC_000002.11:g.179482943T>C , CM000664.1:g.179482943T>C GRCh37
NC_000002.10:g.179191188T>C NCBI36
NG_011618.3:g.217587A>G , LRG_391:g.217587A>G
NG_051363.1:g.100390T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39538A>G (TTN) ENSP00000343764.6:p.Asn13180Asp
ENST00000342175.11:c.20623A>G (TTN) ENSP00000340554.6:p.Asn6875Asp
ENST00000359218.10:c.20422A>G (TTN) ENSP00000352154.5:p.Asn6808Asp
ENST00000342175.10:c.20623A>G (TTN) ENSP00000340554.6:p.Asn6875Asp
ENST00000342992.10:c.39538A>G (TTN) ENSP00000343764.6:p.Asn13180Asp
ENST00000359218.9:c.20422A>G (TTN) ENSP00000352154.5:p.Asn6808Asp
ENST00000460472.6:c.20047A>G (TTN) ENSP00000434586.1:p.Asn6683Asp
ENST00000589042.5:c.47242A>G (TTN) MANE Select ENSP00000467141.1:p.Asn15748Asp
ENST00000591111.5:c.42319A>G (TTN) ENSP00000465570.1:p.Asn14107Asp
ENST00000615779.4:c.42319A>G (TTN) ENSP00000483597.1:p.Asn14107Asp
NM_001256850.1:c.42319A>G (TTN) NP_001243779.1:p.Asn14107Asp
NM_001267550.2:c.47242A>G (TTN) MANE Select NP_001254479.2:p.Asn15748Asp
NM_003319.4:c.20047A>G (TTN) NP_003310.4:p.Asn6683Asp
NM_133378.4:c.39538A>G (TTN) NP_596869.4:p.Asn13180Asp
NM_133432.3:c.20422A>G (TTN) NP_597676.3:p.Asn6808Asp
NM_133437.4:c.20623A>G (TTN) NP_597681.4:p.Asn6875Asp
NR_038271.1:n.1605-1537T>C (TTN-AS1)
XM_011511729.1:c.46339A>G (TTN) XP_011510031.1:p.Asn15447Asp
XM_011511730.1:c.20233A>G (TTN) XP_011510032.1:p.Asn6745Asp
XM_011511731.1:c.20092A>G (TTN) XP_011510033.1:p.Asn6698Asp
XM_017004819.1:c.46135A>G (TTN) XP_016860308.1:p.Asn15379Asp
XM_017004820.1:c.41533A>G (TTN) XP_016860309.1:p.Asn13845Asp
XM_017004821.1:c.41530A>G (TTN) XP_016860310.1:p.Asn13844Asp
XM_017004822.1:c.38572A>G (TTN) XP_016860311.1:p.Asn12858Asp
XM_017004823.1:c.20188A>G (TTN) XP_016860312.1:p.Asn6730Asp
XM_024453094.1:c.41683A>G (TTN) XP_024308862.1:p.Asn13895Asp
XM_024453095.1:c.41680A>G (TTN) XP_024308863.1:p.Asn13894Asp
XM_024453096.1:c.41113A>G (TTN) XP_024308864.1:p.Asn13705Asp
XM_024453097.1:c.38455A>G (TTN) XP_024308865.1:p.Asn12819Asp
XM_024453098.1:c.38374A>G (TTN) XP_024308866.1:p.Asn12792Asp
XM_024453099.1:c.20137A>G (TTN) XP_024308867.1:p.Asn6713Asp
XM_024453100.1:c.9991A>G (TTN) XP_024308868.1:p.Asn3331Asp