Canonical Allele Identifier: CA349405519

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530091T>A , CM000664.2:g.178530091T>A GRCh38
NC_000002.11:g.179394818T>A , CM000664.1:g.179394818T>A GRCh37
NC_000002.10:g.179103064T>A NCBI36
NG_011618.3:g.305712A>T , LRG_391:g.305712A>T
NG_051363.1:g.12265T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98696A>T (TTN) ENSP00000343764.6:p.Lys32899Ile
ENST00000342175.11:c.79781A>T (TTN) ENSP00000340554.6:p.Lys26594Ile
ENST00000359218.10:c.79580A>T (TTN) ENSP00000352154.5:p.Lys26527Ile
ENST00000342175.10:c.79781A>T (TTN) ENSP00000340554.6:p.Lys26594Ile
ENST00000342992.10:c.98696A>T (TTN) ENSP00000343764.6:p.Lys32899Ile
ENST00000359218.9:c.79580A>T (TTN) ENSP00000352154.5:p.Lys26527Ile
ENST00000460472.6:c.79205A>T (TTN) ENSP00000434586.1:p.Lys26402Ile
ENST00000589042.5:c.106400A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35467Ile
ENST00000591111.5:c.101477A>T (TTN) ENSP00000465570.1:p.Lys33826Ile
ENST00000615779.4:c.101477A>T (TTN) ENSP00000483597.1:p.Lys33826Ile
NM_001256850.1:c.101477A>T (TTN) NP_001243779.1:p.Lys33826Ile
NM_001267550.2:c.106400A>T (TTN) MANE Select NP_001254479.2:p.Lys35467Ile
NM_003319.4:c.79205A>T (TTN) NP_003310.4:p.Lys26402Ile
NM_133378.4:c.98696A>T (TTN) NP_596869.4:p.Lys32899Ile
NM_133432.3:c.79580A>T (TTN) NP_597676.3:p.Lys26527Ile
NM_133437.4:c.79781A>T (TTN) NP_597681.4:p.Lys26594Ile
NR_038271.1:n.446+6455T>A (TTN-AS1)
NR_038272.1:n.220-5641T>A (TTN-AS1)
XM_011511729.1:c.105497A>T (TTN) XP_011510031.1:p.Lys35166Ile
XM_011511730.1:c.79391A>T (TTN) XP_011510032.1:p.Lys26464Ile
XM_011511731.1:c.79250A>T (TTN) XP_011510033.1:p.Lys26417Ile
XM_017004819.1:c.105293A>T (TTN) XP_016860308.1:p.Lys35098Ile
XM_017004820.1:c.100691A>T (TTN) XP_016860309.1:p.Lys33564Ile
XM_017004821.1:c.100688A>T (TTN) XP_016860310.1:p.Lys33563Ile
XM_017004822.1:c.97730A>T (TTN) XP_016860311.1:p.Lys32577Ile
XM_017004823.1:c.79346A>T (TTN) XP_016860312.1:p.Lys26449Ile
XM_024453094.1:c.100841A>T (TTN) XP_024308862.1:p.Lys33614Ile
XM_024453095.1:c.100838A>T (TTN) XP_024308863.1:p.Lys33613Ile
XM_024453096.1:c.100271A>T (TTN) XP_024308864.1:p.Lys33424Ile
XM_024453097.1:c.97613A>T (TTN) XP_024308865.1:p.Lys32538Ile
XM_024453098.1:c.97532A>T (TTN) XP_024308866.1:p.Lys32511Ile
XM_024453099.1:c.79295A>T (TTN) XP_024308867.1:p.Lys26432Ile
XM_024453100.1:c.69149A>T (TTN) XP_024308868.1:p.Lys23050Ile