Canonical Allele Identifier: CA349457945

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544461T>C , CM000664.2:g.178544461T>C GRCh38
NC_000002.11:g.179409188T>C , CM000664.1:g.179409188T>C GRCh37
NC_000002.10:g.179117434T>C NCBI36
NG_011618.3:g.291342A>G , LRG_391:g.291342A>G
NG_051363.1:g.26635T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88064A>G (TTN) ENSP00000343764.6:p.Lys29355Arg
ENST00000342175.11:c.69149A>G (TTN) ENSP00000340554.6:p.Lys23050Arg
ENST00000359218.10:c.68948A>G (TTN) ENSP00000352154.5:p.Lys22983Arg
ENST00000342175.10:c.69149A>G (TTN) ENSP00000340554.6:p.Lys23050Arg
ENST00000342992.10:c.88064A>G (TTN) ENSP00000343764.6:p.Lys29355Arg
ENST00000359218.9:c.68948A>G (TTN) ENSP00000352154.5:p.Lys22983Arg
ENST00000460472.6:c.68573A>G (TTN) ENSP00000434586.1:p.Lys22858Arg
ENST00000589042.5:c.95768A>G (TTN) MANE Select ENSP00000467141.1:p.Lys31923Arg
ENST00000591111.5:c.90845A>G (TTN) ENSP00000465570.1:p.Lys30282Arg
ENST00000615779.4:c.90845A>G (TTN) ENSP00000483597.1:p.Lys30282Arg
NM_001256850.1:c.90845A>G (TTN) NP_001243779.1:p.Lys30282Arg
NM_001267550.2:c.95768A>G (TTN) MANE Select NP_001254479.2:p.Lys31923Arg
NM_003319.4:c.68573A>G (TTN) NP_003310.4:p.Lys22858Arg
NM_133378.4:c.88064A>G (TTN) NP_596869.4:p.Lys29355Arg
NM_133432.3:c.68948A>G (TTN) NP_597676.3:p.Lys22983Arg
NM_133437.4:c.69149A>G (TTN) NP_597681.4:p.Lys23050Arg
NR_038271.1:n.446+20825T>C (TTN-AS1)
NR_038272.1:n.2043+2100T>C (TTN-AS1)
XM_011511729.1:c.94865A>G (TTN) XP_011510031.1:p.Lys31622Arg
XM_011511730.1:c.68759A>G (TTN) XP_011510032.1:p.Lys22920Arg
XM_011511731.1:c.68618A>G (TTN) XP_011510033.1:p.Lys22873Arg
XM_017004819.1:c.94661A>G (TTN) XP_016860308.1:p.Lys31554Arg
XM_017004820.1:c.90059A>G (TTN) XP_016860309.1:p.Lys30020Arg
XM_017004821.1:c.90056A>G (TTN) XP_016860310.1:p.Lys30019Arg
XM_017004822.1:c.87098A>G (TTN) XP_016860311.1:p.Lys29033Arg
XM_017004823.1:c.68714A>G (TTN) XP_016860312.1:p.Lys22905Arg
XM_024453094.1:c.90209A>G (TTN) XP_024308862.1:p.Lys30070Arg
XM_024453095.1:c.90206A>G (TTN) XP_024308863.1:p.Lys30069Arg
XM_024453096.1:c.89639A>G (TTN) XP_024308864.1:p.Lys29880Arg
XM_024453097.1:c.86981A>G (TTN) XP_024308865.1:p.Lys28994Arg
XM_024453098.1:c.86900A>G (TTN) XP_024308866.1:p.Lys28967Arg
XM_024453099.1:c.68663A>G (TTN) XP_024308867.1:p.Lys22888Arg
XM_024453100.1:c.58517A>G (TTN) XP_024308868.1:p.Lys19506Arg