Canonical Allele Identifier: CA349423554

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579666T>G , CM000664.2:g.178579666T>G GRCh38
NC_000002.11:g.179444393T>G , CM000664.1:g.179444393T>G GRCh37
NC_000002.10:g.179152639T>G NCBI36
NG_011618.3:g.256137A>C , LRG_391:g.256137A>C
NG_051363.1:g.61840T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59827A>C (TTN) ENSP00000343764.6:p.Lys19943Gln
ENST00000342175.11:c.40912A>C (TTN) ENSP00000340554.6:p.Lys13638Gln
ENST00000359218.10:c.40711A>C (TTN) ENSP00000352154.5:p.Lys13571Gln
ENST00000342175.10:c.40912A>C (TTN) ENSP00000340554.6:p.Lys13638Gln
ENST00000342992.10:c.59827A>C (TTN) ENSP00000343764.6:p.Lys19943Gln
ENST00000359218.9:c.40711A>C (TTN) ENSP00000352154.5:p.Lys13571Gln
ENST00000460472.6:c.40336A>C (TTN) ENSP00000434586.1:p.Lys13446Gln
ENST00000589042.5:c.67531A>C (TTN) MANE Select ENSP00000467141.1:p.Lys22511Gln
ENST00000591111.5:c.62608A>C (TTN) ENSP00000465570.1:p.Lys20870Gln
ENST00000615779.4:c.62608A>C (TTN) ENSP00000483597.1:p.Lys20870Gln
NM_001256850.1:c.62608A>C (TTN) NP_001243779.1:p.Lys20870Gln
NM_001267550.2:c.67531A>C (TTN) MANE Select NP_001254479.2:p.Lys22511Gln
NM_003319.4:c.40336A>C (TTN) NP_003310.4:p.Lys13446Gln
NM_133378.4:c.59827A>C (TTN) NP_596869.4:p.Lys19943Gln
NM_133432.3:c.40711A>C (TTN) NP_597676.3:p.Lys13571Gln
NM_133437.4:c.40912A>C (TTN) NP_597681.4:p.Lys13638Gln
NR_038271.1:n.596+8217T>G (TTN-AS1)
NR_038272.1:n.2044-2906T>G (TTN-AS1)
XM_011511729.1:c.66628A>C (TTN) XP_011510031.1:p.Lys22210Gln
XM_011511730.1:c.40522A>C (TTN) XP_011510032.1:p.Lys13508Gln
XM_011511731.1:c.40381A>C (TTN) XP_011510033.1:p.Lys13461Gln
XM_017004819.1:c.66424A>C (TTN) XP_016860308.1:p.Lys22142Gln
XM_017004820.1:c.61822A>C (TTN) XP_016860309.1:p.Lys20608Gln
XM_017004821.1:c.61819A>C (TTN) XP_016860310.1:p.Lys20607Gln
XM_017004822.1:c.58861A>C (TTN) XP_016860311.1:p.Lys19621Gln
XM_017004823.1:c.40477A>C (TTN) XP_016860312.1:p.Lys13493Gln
XM_024453094.1:c.61972A>C (TTN) XP_024308862.1:p.Lys20658Gln
XM_024453095.1:c.61969A>C (TTN) XP_024308863.1:p.Lys20657Gln
XM_024453096.1:c.61402A>C (TTN) XP_024308864.1:p.Lys20468Gln
XM_024453097.1:c.58744A>C (TTN) XP_024308865.1:p.Lys19582Gln
XM_024453098.1:c.58663A>C (TTN) XP_024308866.1:p.Lys19555Gln
XM_024453099.1:c.40426A>C (TTN) XP_024308867.1:p.Lys13476Gln
XM_024453100.1:c.30280A>C (TTN) XP_024308868.1:p.Lys10094Gln