Canonical Allele Identifier: CA349435405

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584470T>G , CM000664.2:g.178584470T>G GRCh38
NC_000002.11:g.179449197T>G , CM000664.1:g.179449197T>G GRCh37
NC_000002.10:g.179157443T>G NCBI36
NG_011618.3:g.251333A>C , LRG_391:g.251333A>C
NG_051363.1:g.66644T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57377A>C (TTN) ENSP00000343764.6:p.Tyr19126Ser
ENST00000342175.11:c.38462A>C (TTN) ENSP00000340554.6:p.Tyr12821Ser
ENST00000359218.10:c.38261A>C (TTN) ENSP00000352154.5:p.Tyr12754Ser
ENST00000342175.10:c.38462A>C (TTN) ENSP00000340554.6:p.Tyr12821Ser
ENST00000342992.10:c.57377A>C (TTN) ENSP00000343764.6:p.Tyr19126Ser
ENST00000359218.9:c.38261A>C (TTN) ENSP00000352154.5:p.Tyr12754Ser
ENST00000460472.6:c.37886A>C (TTN) ENSP00000434586.1:p.Tyr12629Ser
ENST00000589042.5:c.65081A>C (TTN) MANE Select ENSP00000467141.1:p.Tyr21694Ser
ENST00000591111.5:c.60158A>C (TTN) ENSP00000465570.1:p.Tyr20053Ser
ENST00000615779.4:c.60158A>C (TTN) ENSP00000483597.1:p.Tyr20053Ser
NM_001256850.1:c.60158A>C (TTN) NP_001243779.1:p.Tyr20053Ser
NM_001267550.2:c.65081A>C (TTN) MANE Select NP_001254479.2:p.Tyr21694Ser
NM_003319.4:c.37886A>C (TTN) NP_003310.4:p.Tyr12629Ser
NM_133378.4:c.57377A>C (TTN) NP_596869.4:p.Tyr19126Ser
NM_133432.3:c.38261A>C (TTN) NP_597676.3:p.Tyr12754Ser
NM_133437.4:c.38462A>C (TTN) NP_597681.4:p.Tyr12821Ser
NR_038271.1:n.596+13021T>G (TTN-AS1)
NR_038272.1:n.2768-103T>G (TTN-AS1)
XM_011511729.1:c.64178A>C (TTN) XP_011510031.1:p.Tyr21393Ser
XM_011511730.1:c.38072A>C (TTN) XP_011510032.1:p.Tyr12691Ser
XM_011511731.1:c.37931A>C (TTN) XP_011510033.1:p.Tyr12644Ser
XM_017004819.1:c.63974A>C (TTN) XP_016860308.1:p.Tyr21325Ser
XM_017004820.1:c.59372A>C (TTN) XP_016860309.1:p.Tyr19791Ser
XM_017004821.1:c.59369A>C (TTN) XP_016860310.1:p.Tyr19790Ser
XM_017004822.1:c.56411A>C (TTN) XP_016860311.1:p.Tyr18804Ser
XM_017004823.1:c.38027A>C (TTN) XP_016860312.1:p.Tyr12676Ser
XM_024453094.1:c.59522A>C (TTN) XP_024308862.1:p.Tyr19841Ser
XM_024453095.1:c.59519A>C (TTN) XP_024308863.1:p.Tyr19840Ser
XM_024453096.1:c.58952A>C (TTN) XP_024308864.1:p.Tyr19651Ser
XM_024453097.1:c.56294A>C (TTN) XP_024308865.1:p.Tyr18765Ser
XM_024453098.1:c.56213A>C (TTN) XP_024308866.1:p.Tyr18738Ser
XM_024453099.1:c.37976A>C (TTN) XP_024308867.1:p.Tyr12659Ser
XM_024453100.1:c.27830A>C (TTN) XP_024308868.1:p.Tyr9277Ser