Canonical Allele Identifier: CA349411936

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532267A>C , CM000664.2:g.178532267A>C GRCh38
NC_000002.11:g.179396994A>C , CM000664.1:g.179396994A>C GRCh37
NC_000002.10:g.179105240A>C NCBI36
NG_011618.3:g.303536T>G , LRG_391:g.303536T>G
NG_051363.1:g.14441A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96644T>G (TTN) ENSP00000343764.6:p.Leu32215Arg
ENST00000342175.11:c.77729T>G (TTN) ENSP00000340554.6:p.Leu25910Arg
ENST00000359218.10:c.77528T>G (TTN) ENSP00000352154.5:p.Leu25843Arg
ENST00000342175.10:c.77729T>G (TTN) ENSP00000340554.6:p.Leu25910Arg
ENST00000342992.10:c.96644T>G (TTN) ENSP00000343764.6:p.Leu32215Arg
ENST00000359218.9:c.77528T>G (TTN) ENSP00000352154.5:p.Leu25843Arg
ENST00000460472.6:c.77153T>G (TTN) ENSP00000434586.1:p.Leu25718Arg
ENST00000589042.5:c.104348T>G (TTN) MANE Select ENSP00000467141.1:p.Leu34783Arg
ENST00000591111.5:c.99425T>G (TTN) ENSP00000465570.1:p.Leu33142Arg
ENST00000615779.4:c.99425T>G (TTN) ENSP00000483597.1:p.Leu33142Arg
NM_001256850.1:c.99425T>G (TTN) NP_001243779.1:p.Leu33142Arg
NM_001267550.2:c.104348T>G (TTN) MANE Select NP_001254479.2:p.Leu34783Arg
NM_003319.4:c.77153T>G (TTN) NP_003310.4:p.Leu25718Arg
NM_133378.4:c.96644T>G (TTN) NP_596869.4:p.Leu32215Arg
NM_133432.3:c.77528T>G (TTN) NP_597676.3:p.Leu25843Arg
NM_133437.4:c.77729T>G (TTN) NP_597681.4:p.Leu25910Arg
NR_038271.1:n.446+8631A>C (TTN-AS1)
NR_038272.1:n.220-3465A>C (TTN-AS1)
XM_011511729.1:c.103445T>G (TTN) XP_011510031.1:p.Leu34482Arg
XM_011511730.1:c.77339T>G (TTN) XP_011510032.1:p.Leu25780Arg
XM_011511731.1:c.77198T>G (TTN) XP_011510033.1:p.Leu25733Arg
XM_017004819.1:c.103241T>G (TTN) XP_016860308.1:p.Leu34414Arg
XM_017004820.1:c.98639T>G (TTN) XP_016860309.1:p.Leu32880Arg
XM_017004821.1:c.98636T>G (TTN) XP_016860310.1:p.Leu32879Arg
XM_017004822.1:c.95678T>G (TTN) XP_016860311.1:p.Leu31893Arg
XM_017004823.1:c.77294T>G (TTN) XP_016860312.1:p.Leu25765Arg
XM_024453094.1:c.98789T>G (TTN) XP_024308862.1:p.Leu32930Arg
XM_024453095.1:c.98786T>G (TTN) XP_024308863.1:p.Leu32929Arg
XM_024453096.1:c.98219T>G (TTN) XP_024308864.1:p.Leu32740Arg
XM_024453097.1:c.95561T>G (TTN) XP_024308865.1:p.Leu31854Arg
XM_024453098.1:c.95480T>G (TTN) XP_024308866.1:p.Leu31827Arg
XM_024453099.1:c.77243T>G (TTN) XP_024308867.1:p.Leu25748Arg
XM_024453100.1:c.67097T>G (TTN) XP_024308868.1:p.Leu22366Arg