Canonical Allele Identifier: CA349504090

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551840A>G , CM000664.2:g.178551840A>G GRCh38
NC_000002.11:g.179416567A>G , CM000664.1:g.179416567A>G GRCh37
NC_000002.10:g.179124813A>G NCBI36
NG_011618.3:g.283963T>C , LRG_391:g.283963T>C
NG_051363.1:g.34014A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83356T>C (TTN) ENSP00000343764.6:p.Ser27786Pro
ENST00000342175.11:c.64441T>C (TTN) ENSP00000340554.6:p.Ser21481Pro
ENST00000359218.10:c.64240T>C (TTN) ENSP00000352154.5:p.Ser21414Pro
ENST00000342175.10:c.64441T>C (TTN) ENSP00000340554.6:p.Ser21481Pro
ENST00000342992.10:c.83356T>C (TTN) ENSP00000343764.6:p.Ser27786Pro
ENST00000359218.9:c.64240T>C (TTN) ENSP00000352154.5:p.Ser21414Pro
ENST00000460472.6:c.63865T>C (TTN) ENSP00000434586.1:p.Ser21289Pro
ENST00000589042.5:c.91060T>C (TTN) MANE Select ENSP00000467141.1:p.Ser30354Pro
ENST00000591111.5:c.86137T>C (TTN) ENSP00000465570.1:p.Ser28713Pro
ENST00000615779.4:c.86137T>C (TTN) ENSP00000483597.1:p.Ser28713Pro
NM_001256850.1:c.86137T>C (TTN) NP_001243779.1:p.Ser28713Pro
NM_001267550.2:c.91060T>C (TTN) MANE Select NP_001254479.2:p.Ser30354Pro
NM_003319.4:c.63865T>C (TTN) NP_003310.4:p.Ser21289Pro
NM_133378.4:c.83356T>C (TTN) NP_596869.4:p.Ser27786Pro
NM_133432.3:c.64240T>C (TTN) NP_597676.3:p.Ser21414Pro
NM_133437.4:c.64441T>C (TTN) NP_597681.4:p.Ser21481Pro
NR_038271.1:n.447-19460A>G (TTN-AS1)
NR_038272.1:n.2043+9479A>G (TTN-AS1)
XM_011511729.1:c.90157T>C (TTN) XP_011510031.1:p.Ser30053Pro
XM_011511730.1:c.64051T>C (TTN) XP_011510032.1:p.Ser21351Pro
XM_011511731.1:c.63910T>C (TTN) XP_011510033.1:p.Ser21304Pro
XM_017004819.1:c.89953T>C (TTN) XP_016860308.1:p.Ser29985Pro
XM_017004820.1:c.85351T>C (TTN) XP_016860309.1:p.Ser28451Pro
XM_017004821.1:c.85348T>C (TTN) XP_016860310.1:p.Ser28450Pro
XM_017004822.1:c.82390T>C (TTN) XP_016860311.1:p.Ser27464Pro
XM_017004823.1:c.64006T>C (TTN) XP_016860312.1:p.Ser21336Pro
XM_024453094.1:c.85501T>C (TTN) XP_024308862.1:p.Ser28501Pro
XM_024453095.1:c.85498T>C (TTN) XP_024308863.1:p.Ser28500Pro
XM_024453096.1:c.84931T>C (TTN) XP_024308864.1:p.Ser28311Pro
XM_024453097.1:c.82273T>C (TTN) XP_024308865.1:p.Ser27425Pro
XM_024453098.1:c.82192T>C (TTN) XP_024308866.1:p.Ser27398Pro
XM_024453099.1:c.63955T>C (TTN) XP_024308867.1:p.Ser21319Pro
XM_024453100.1:c.53809T>C (TTN) XP_024308868.1:p.Ser17937Pro