Canonical Allele Identifier: CA349407245

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530613A>C , CM000664.2:g.178530613A>C GRCh38
NC_000002.11:g.179395340A>C , CM000664.1:g.179395340A>C GRCh37
NC_000002.10:g.179103586A>C NCBI36
NG_011618.3:g.305190T>G , LRG_391:g.305190T>G
NG_051363.1:g.12787A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98298T>G (TTN) ENSP00000343764.6:p.Phe32766Leu
ENST00000342175.11:c.79383T>G (TTN) ENSP00000340554.6:p.Phe26461Leu
ENST00000359218.10:c.79182T>G (TTN) ENSP00000352154.5:p.Phe26394Leu
ENST00000342175.10:c.79383T>G (TTN) ENSP00000340554.6:p.Phe26461Leu
ENST00000342992.10:c.98298T>G (TTN) ENSP00000343764.6:p.Phe32766Leu
ENST00000359218.9:c.79182T>G (TTN) ENSP00000352154.5:p.Phe26394Leu
ENST00000460472.6:c.78807T>G (TTN) ENSP00000434586.1:p.Phe26269Leu
ENST00000589042.5:c.106002T>G (TTN) MANE Select ENSP00000467141.1:p.Phe35334Leu
ENST00000591111.5:c.101079T>G (TTN) ENSP00000465570.1:p.Phe33693Leu
ENST00000615779.4:c.101079T>G (TTN) ENSP00000483597.1:p.Phe33693Leu
NM_001256850.1:c.101079T>G (TTN) NP_001243779.1:p.Phe33693Leu
NM_001267550.2:c.106002T>G (TTN) MANE Select NP_001254479.2:p.Phe35334Leu
NM_003319.4:c.78807T>G (TTN) NP_003310.4:p.Phe26269Leu
NM_133378.4:c.98298T>G (TTN) NP_596869.4:p.Phe32766Leu
NM_133432.3:c.79182T>G (TTN) NP_597676.3:p.Phe26394Leu
NM_133437.4:c.79383T>G (TTN) NP_597681.4:p.Phe26461Leu
NR_038271.1:n.446+6977A>C (TTN-AS1)
NR_038272.1:n.220-5119A>C (TTN-AS1)
XM_011511729.1:c.105099T>G (TTN) XP_011510031.1:p.Phe35033Leu
XM_011511730.1:c.78993T>G (TTN) XP_011510032.1:p.Phe26331Leu
XM_011511731.1:c.78852T>G (TTN) XP_011510033.1:p.Phe26284Leu
XM_017004819.1:c.104895T>G (TTN) XP_016860308.1:p.Phe34965Leu
XM_017004820.1:c.100293T>G (TTN) XP_016860309.1:p.Phe33431Leu
XM_017004821.1:c.100290T>G (TTN) XP_016860310.1:p.Phe33430Leu
XM_017004822.1:c.97332T>G (TTN) XP_016860311.1:p.Phe32444Leu
XM_017004823.1:c.78948T>G (TTN) XP_016860312.1:p.Phe26316Leu
XM_024453094.1:c.100443T>G (TTN) XP_024308862.1:p.Phe33481Leu
XM_024453095.1:c.100440T>G (TTN) XP_024308863.1:p.Phe33480Leu
XM_024453096.1:c.99873T>G (TTN) XP_024308864.1:p.Phe33291Leu
XM_024453097.1:c.97215T>G (TTN) XP_024308865.1:p.Phe32405Leu
XM_024453098.1:c.97134T>G (TTN) XP_024308866.1:p.Phe32378Leu
XM_024453099.1:c.78897T>G (TTN) XP_024308867.1:p.Phe26299Leu
XM_024453100.1:c.68751T>G (TTN) XP_024308868.1:p.Phe22917Leu