Canonical Allele Identifier: CA349411563

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532123G>C , CM000664.2:g.178532123G>C GRCh38
NC_000002.11:g.179396850G>C , CM000664.1:g.179396850G>C GRCh37
NC_000002.10:g.179105096G>C NCBI36
NG_011618.3:g.303680C>G , LRG_391:g.303680C>G
NG_051363.1:g.14297G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96788C>G (TTN) ENSP00000343764.6:p.Ser32263Ter
ENST00000342175.11:c.77873C>G (TTN) ENSP00000340554.6:p.Ser25958Ter
ENST00000359218.10:c.77672C>G (TTN) ENSP00000352154.5:p.Ser25891Ter
ENST00000342175.10:c.77873C>G (TTN) ENSP00000340554.6:p.Ser25958Ter
ENST00000342992.10:c.96788C>G (TTN) ENSP00000343764.6:p.Ser32263Ter
ENST00000359218.9:c.77672C>G (TTN) ENSP00000352154.5:p.Ser25891Ter
ENST00000460472.6:c.77297C>G (TTN) ENSP00000434586.1:p.Ser25766Ter
ENST00000589042.5:c.104492C>G (TTN) MANE Select ENSP00000467141.1:p.Ser34831Ter
ENST00000591111.5:c.99569C>G (TTN) ENSP00000465570.1:p.Ser33190Ter
ENST00000615779.4:c.99569C>G (TTN) ENSP00000483597.1:p.Ser33190Ter
NM_001256850.1:c.99569C>G (TTN) NP_001243779.1:p.Ser33190Ter
NM_001267550.2:c.104492C>G (TTN) MANE Select NP_001254479.2:p.Ser34831Ter
NM_003319.4:c.77297C>G (TTN) NP_003310.4:p.Ser25766Ter
NM_133378.4:c.96788C>G (TTN) NP_596869.4:p.Ser32263Ter
NM_133432.3:c.77672C>G (TTN) NP_597676.3:p.Ser25891Ter
NM_133437.4:c.77873C>G (TTN) NP_597681.4:p.Ser25958Ter
NR_038271.1:n.446+8487G>C (TTN-AS1)
NR_038272.1:n.220-3609G>C (TTN-AS1)
XM_011511729.1:c.103589C>G (TTN) XP_011510031.1:p.Ser34530Ter
XM_011511730.1:c.77483C>G (TTN) XP_011510032.1:p.Ser25828Ter
XM_011511731.1:c.77342C>G (TTN) XP_011510033.1:p.Ser25781Ter
XM_017004819.1:c.103385C>G (TTN) XP_016860308.1:p.Ser34462Ter
XM_017004820.1:c.98783C>G (TTN) XP_016860309.1:p.Ser32928Ter
XM_017004821.1:c.98780C>G (TTN) XP_016860310.1:p.Ser32927Ter
XM_017004822.1:c.95822C>G (TTN) XP_016860311.1:p.Ser31941Ter
XM_017004823.1:c.77438C>G (TTN) XP_016860312.1:p.Ser25813Ter
XM_024453094.1:c.98933C>G (TTN) XP_024308862.1:p.Ser32978Ter
XM_024453095.1:c.98930C>G (TTN) XP_024308863.1:p.Ser32977Ter
XM_024453096.1:c.98363C>G (TTN) XP_024308864.1:p.Ser32788Ter
XM_024453097.1:c.95705C>G (TTN) XP_024308865.1:p.Ser31902Ter
XM_024453098.1:c.95624C>G (TTN) XP_024308866.1:p.Ser31875Ter
XM_024453099.1:c.77387C>G (TTN) XP_024308867.1:p.Ser25796Ter
XM_024453100.1:c.67241C>G (TTN) XP_024308868.1:p.Ser22414Ter