Canonical Allele Identifier: CA349406825

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530449A>T , CM000664.2:g.178530449A>T GRCh38
NC_000002.11:g.179395176A>T , CM000664.1:g.179395176A>T GRCh37
NC_000002.10:g.179103422A>T NCBI36
NG_011618.3:g.305354T>A , LRG_391:g.305354T>A
NG_051363.1:g.12623A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98462T>A (TTN) ENSP00000343764.6:p.Ile32821Lys
ENST00000342175.11:c.79547T>A (TTN) ENSP00000340554.6:p.Ile26516Lys
ENST00000359218.10:c.79346T>A (TTN) ENSP00000352154.5:p.Ile26449Lys
ENST00000342175.10:c.79547T>A (TTN) ENSP00000340554.6:p.Ile26516Lys
ENST00000342992.10:c.98462T>A (TTN) ENSP00000343764.6:p.Ile32821Lys
ENST00000359218.9:c.79346T>A (TTN) ENSP00000352154.5:p.Ile26449Lys
ENST00000460472.6:c.78971T>A (TTN) ENSP00000434586.1:p.Ile26324Lys
ENST00000589042.5:c.106166T>A (TTN) MANE Select ENSP00000467141.1:p.Ile35389Lys
ENST00000591111.5:c.101243T>A (TTN) ENSP00000465570.1:p.Ile33748Lys
ENST00000615779.4:c.101243T>A (TTN) ENSP00000483597.1:p.Ile33748Lys
NM_001256850.1:c.101243T>A (TTN) NP_001243779.1:p.Ile33748Lys
NM_001267550.2:c.106166T>A (TTN) MANE Select NP_001254479.2:p.Ile35389Lys
NM_003319.4:c.78971T>A (TTN) NP_003310.4:p.Ile26324Lys
NM_133378.4:c.98462T>A (TTN) NP_596869.4:p.Ile32821Lys
NM_133432.3:c.79346T>A (TTN) NP_597676.3:p.Ile26449Lys
NM_133437.4:c.79547T>A (TTN) NP_597681.4:p.Ile26516Lys
NR_038271.1:n.446+6813A>T (TTN-AS1)
NR_038272.1:n.220-5283A>T (TTN-AS1)
XM_011511729.1:c.105263T>A (TTN) XP_011510031.1:p.Ile35088Lys
XM_011511730.1:c.79157T>A (TTN) XP_011510032.1:p.Ile26386Lys
XM_011511731.1:c.79016T>A (TTN) XP_011510033.1:p.Ile26339Lys
XM_017004819.1:c.105059T>A (TTN) XP_016860308.1:p.Ile35020Lys
XM_017004820.1:c.100457T>A (TTN) XP_016860309.1:p.Ile33486Lys
XM_017004821.1:c.100454T>A (TTN) XP_016860310.1:p.Ile33485Lys
XM_017004822.1:c.97496T>A (TTN) XP_016860311.1:p.Ile32499Lys
XM_017004823.1:c.79112T>A (TTN) XP_016860312.1:p.Ile26371Lys
XM_024453094.1:c.100607T>A (TTN) XP_024308862.1:p.Ile33536Lys
XM_024453095.1:c.100604T>A (TTN) XP_024308863.1:p.Ile33535Lys
XM_024453096.1:c.100037T>A (TTN) XP_024308864.1:p.Ile33346Lys
XM_024453097.1:c.97379T>A (TTN) XP_024308865.1:p.Ile32460Lys
XM_024453098.1:c.97298T>A (TTN) XP_024308866.1:p.Ile32433Lys
XM_024453099.1:c.79061T>A (TTN) XP_024308867.1:p.Ile26354Lys
XM_024453100.1:c.68915T>A (TTN) XP_024308868.1:p.Ile22972Lys