Canonical Allele Identifier: CA349543413

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559646T>G , CM000664.2:g.178559646T>G GRCh38
NC_000002.11:g.179424373T>G , CM000664.1:g.179424373T>G GRCh37
NC_000002.10:g.179132619T>G NCBI36
NG_011618.3:g.276157A>C , LRG_391:g.276157A>C
NG_051363.1:g.41820T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78782A>C (TTN) ENSP00000343764.6:p.Asn26261Thr
ENST00000342175.11:c.59867A>C (TTN) ENSP00000340554.6:p.Asn19956Thr
ENST00000359218.10:c.59666A>C (TTN) ENSP00000352154.5:p.Asn19889Thr
ENST00000342175.10:c.59867A>C (TTN) ENSP00000340554.6:p.Asn19956Thr
ENST00000342992.10:c.78782A>C (TTN) ENSP00000343764.6:p.Asn26261Thr
ENST00000359218.9:c.59666A>C (TTN) ENSP00000352154.5:p.Asn19889Thr
ENST00000460472.6:c.59291A>C (TTN) ENSP00000434586.1:p.Asn19764Thr
ENST00000589042.5:c.86486A>C (TTN) MANE Select ENSP00000467141.1:p.Asn28829Thr
ENST00000591111.5:c.81563A>C (TTN) ENSP00000465570.1:p.Asn27188Thr
ENST00000615779.4:c.81563A>C (TTN) ENSP00000483597.1:p.Asn27188Thr
NM_001256850.1:c.81563A>C (TTN) NP_001243779.1:p.Asn27188Thr
NM_001267550.2:c.86486A>C (TTN) MANE Select NP_001254479.2:p.Asn28829Thr
NM_003319.4:c.59291A>C (TTN) NP_003310.4:p.Asn19764Thr
NM_133378.4:c.78782A>C (TTN) NP_596869.4:p.Asn26261Thr
NM_133432.3:c.59666A>C (TTN) NP_597676.3:p.Asn19889Thr
NM_133437.4:c.59867A>C (TTN) NP_597681.4:p.Asn19956Thr
NR_038271.1:n.447-11654T>G (TTN-AS1)
NR_038272.1:n.2043+17285T>G (TTN-AS1)
XM_011511729.1:c.85583A>C (TTN) XP_011510031.1:p.Asn28528Thr
XM_011511730.1:c.59477A>C (TTN) XP_011510032.1:p.Asn19826Thr
XM_011511731.1:c.59336A>C (TTN) XP_011510033.1:p.Asn19779Thr
XM_017004819.1:c.85379A>C (TTN) XP_016860308.1:p.Asn28460Thr
XM_017004820.1:c.80777A>C (TTN) XP_016860309.1:p.Asn26926Thr
XM_017004821.1:c.80774A>C (TTN) XP_016860310.1:p.Asn26925Thr
XM_017004822.1:c.77816A>C (TTN) XP_016860311.1:p.Asn25939Thr
XM_017004823.1:c.59432A>C (TTN) XP_016860312.1:p.Asn19811Thr
XM_024453094.1:c.80927A>C (TTN) XP_024308862.1:p.Asn26976Thr
XM_024453095.1:c.80924A>C (TTN) XP_024308863.1:p.Asn26975Thr
XM_024453096.1:c.80357A>C (TTN) XP_024308864.1:p.Asn26786Thr
XM_024453097.1:c.77699A>C (TTN) XP_024308865.1:p.Asn25900Thr
XM_024453098.1:c.77618A>C (TTN) XP_024308866.1:p.Asn25873Thr
XM_024453099.1:c.59381A>C (TTN) XP_024308867.1:p.Asn19794Thr
XM_024453100.1:c.49235A>C (TTN) XP_024308868.1:p.Asn16412Thr