Canonical Allele Identifier: CA349405247

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530050T>A , CM000664.2:g.178530050T>A GRCh38
NC_000002.11:g.179394777T>A , CM000664.1:g.179394777T>A GRCh37
NC_000002.10:g.179103023T>A NCBI36
NG_011618.3:g.305753A>T , LRG_391:g.305753A>T
NG_051363.1:g.12224T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98737A>T (TTN) ENSP00000343764.6:p.Lys32913Ter
ENST00000342175.11:c.79822A>T (TTN) ENSP00000340554.6:p.Lys26608Ter
ENST00000359218.10:c.79621A>T (TTN) ENSP00000352154.5:p.Lys26541Ter
ENST00000342175.10:c.79822A>T (TTN) ENSP00000340554.6:p.Lys26608Ter
ENST00000342992.10:c.98737A>T (TTN) ENSP00000343764.6:p.Lys32913Ter
ENST00000359218.9:c.79621A>T (TTN) ENSP00000352154.5:p.Lys26541Ter
ENST00000460472.6:c.79246A>T (TTN) ENSP00000434586.1:p.Lys26416Ter
ENST00000589042.5:c.106441A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35481Ter
ENST00000591111.5:c.101518A>T (TTN) ENSP00000465570.1:p.Lys33840Ter
ENST00000615779.4:c.101518A>T (TTN) ENSP00000483597.1:p.Lys33840Ter
NM_001256850.1:c.101518A>T (TTN) NP_001243779.1:p.Lys33840Ter
NM_001267550.2:c.106441A>T (TTN) MANE Select NP_001254479.2:p.Lys35481Ter
NM_003319.4:c.79246A>T (TTN) NP_003310.4:p.Lys26416Ter
NM_133378.4:c.98737A>T (TTN) NP_596869.4:p.Lys32913Ter
NM_133432.3:c.79621A>T (TTN) NP_597676.3:p.Lys26541Ter
NM_133437.4:c.79822A>T (TTN) NP_597681.4:p.Lys26608Ter
NR_038271.1:n.446+6414T>A (TTN-AS1)
NR_038272.1:n.220-5682T>A (TTN-AS1)
XM_011511729.1:c.105538A>T (TTN) XP_011510031.1:p.Lys35180Ter
XM_011511730.1:c.79432A>T (TTN) XP_011510032.1:p.Lys26478Ter
XM_011511731.1:c.79291A>T (TTN) XP_011510033.1:p.Lys26431Ter
XM_017004819.1:c.105334A>T (TTN) XP_016860308.1:p.Lys35112Ter
XM_017004820.1:c.100732A>T (TTN) XP_016860309.1:p.Lys33578Ter
XM_017004821.1:c.100729A>T (TTN) XP_016860310.1:p.Lys33577Ter
XM_017004822.1:c.97771A>T (TTN) XP_016860311.1:p.Lys32591Ter
XM_017004823.1:c.79387A>T (TTN) XP_016860312.1:p.Lys26463Ter
XM_024453094.1:c.100882A>T (TTN) XP_024308862.1:p.Lys33628Ter
XM_024453095.1:c.100879A>T (TTN) XP_024308863.1:p.Lys33627Ter
XM_024453096.1:c.100312A>T (TTN) XP_024308864.1:p.Lys33438Ter
XM_024453097.1:c.97654A>T (TTN) XP_024308865.1:p.Lys32552Ter
XM_024453098.1:c.97573A>T (TTN) XP_024308866.1:p.Lys32525Ter
XM_024453099.1:c.79336A>T (TTN) XP_024308867.1:p.Lys26446Ter
XM_024453100.1:c.69190A>T (TTN) XP_024308868.1:p.Lys23064Ter