Canonical Allele Identifier: CA349521613

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178554097T>G , CM000664.2:g.178554097T>G GRCh38
NC_000002.11:g.179418824T>G , CM000664.1:g.179418824T>G GRCh37
NC_000002.10:g.179127070T>G NCBI36
NG_011618.3:g.281706A>C , LRG_391:g.281706A>C
NG_051363.1:g.36271T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.81310A>C (TTN) ENSP00000343764.6:p.Lys27104Gln
ENST00000342175.11:c.62395A>C (TTN) ENSP00000340554.6:p.Lys20799Gln
ENST00000359218.10:c.62194A>C (TTN) ENSP00000352154.5:p.Lys20732Gln
ENST00000342175.10:c.62395A>C (TTN) ENSP00000340554.6:p.Lys20799Gln
ENST00000342992.10:c.81310A>C (TTN) ENSP00000343764.6:p.Lys27104Gln
ENST00000359218.9:c.62194A>C (TTN) ENSP00000352154.5:p.Lys20732Gln
ENST00000460472.6:c.61819A>C (TTN) ENSP00000434586.1:p.Lys20607Gln
ENST00000589042.5:c.89014A>C (TTN) MANE Select ENSP00000467141.1:p.Lys29672Gln
ENST00000591111.5:c.84091A>C (TTN) ENSP00000465570.1:p.Lys28031Gln
ENST00000615779.4:c.84091A>C (TTN) ENSP00000483597.1:p.Lys28031Gln
NM_001256850.1:c.84091A>C (TTN) NP_001243779.1:p.Lys28031Gln
NM_001267550.2:c.89014A>C (TTN) MANE Select NP_001254479.2:p.Lys29672Gln
NM_003319.4:c.61819A>C (TTN) NP_003310.4:p.Lys20607Gln
NM_133378.4:c.81310A>C (TTN) NP_596869.4:p.Lys27104Gln
NM_133432.3:c.62194A>C (TTN) NP_597676.3:p.Lys20732Gln
NM_133437.4:c.62395A>C (TTN) NP_597681.4:p.Lys20799Gln
NR_038271.1:n.447-17203T>G (TTN-AS1)
NR_038272.1:n.2043+11736T>G (TTN-AS1)
XM_011511729.1:c.88111A>C (TTN) XP_011510031.1:p.Lys29371Gln
XM_011511730.1:c.62005A>C (TTN) XP_011510032.1:p.Lys20669Gln
XM_011511731.1:c.61864A>C (TTN) XP_011510033.1:p.Lys20622Gln
XM_017004819.1:c.87907A>C (TTN) XP_016860308.1:p.Lys29303Gln
XM_017004820.1:c.83305A>C (TTN) XP_016860309.1:p.Lys27769Gln
XM_017004821.1:c.83302A>C (TTN) XP_016860310.1:p.Lys27768Gln
XM_017004822.1:c.80344A>C (TTN) XP_016860311.1:p.Lys26782Gln
XM_017004823.1:c.61960A>C (TTN) XP_016860312.1:p.Lys20654Gln
XM_024453094.1:c.83455A>C (TTN) XP_024308862.1:p.Lys27819Gln
XM_024453095.1:c.83452A>C (TTN) XP_024308863.1:p.Lys27818Gln
XM_024453096.1:c.82885A>C (TTN) XP_024308864.1:p.Lys27629Gln
XM_024453097.1:c.80227A>C (TTN) XP_024308865.1:p.Lys26743Gln
XM_024453098.1:c.80146A>C (TTN) XP_024308866.1:p.Lys26716Gln
XM_024453099.1:c.61909A>C (TTN) XP_024308867.1:p.Lys20637Gln
XM_024453100.1:c.51763A>C (TTN) XP_024308868.1:p.Lys17255Gln