Canonical Allele Identifier: CA349435410

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584471A>T , CM000664.2:g.178584471A>T GRCh38
NC_000002.11:g.179449198A>T , CM000664.1:g.179449198A>T GRCh37
NC_000002.10:g.179157444A>T NCBI36
NG_011618.3:g.251332T>A , LRG_391:g.251332T>A
NG_051363.1:g.66645A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57376T>A (TTN) ENSP00000343764.6:p.Tyr19126Asn
ENST00000342175.11:c.38461T>A (TTN) ENSP00000340554.6:p.Tyr12821Asn
ENST00000359218.10:c.38260T>A (TTN) ENSP00000352154.5:p.Tyr12754Asn
ENST00000342175.10:c.38461T>A (TTN) ENSP00000340554.6:p.Tyr12821Asn
ENST00000342992.10:c.57376T>A (TTN) ENSP00000343764.6:p.Tyr19126Asn
ENST00000359218.9:c.38260T>A (TTN) ENSP00000352154.5:p.Tyr12754Asn
ENST00000460472.6:c.37885T>A (TTN) ENSP00000434586.1:p.Tyr12629Asn
ENST00000589042.5:c.65080T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr21694Asn
ENST00000591111.5:c.60157T>A (TTN) ENSP00000465570.1:p.Tyr20053Asn
ENST00000615779.4:c.60157T>A (TTN) ENSP00000483597.1:p.Tyr20053Asn
NM_001256850.1:c.60157T>A (TTN) NP_001243779.1:p.Tyr20053Asn
NM_001267550.2:c.65080T>A (TTN) MANE Select NP_001254479.2:p.Tyr21694Asn
NM_003319.4:c.37885T>A (TTN) NP_003310.4:p.Tyr12629Asn
NM_133378.4:c.57376T>A (TTN) NP_596869.4:p.Tyr19126Asn
NM_133432.3:c.38260T>A (TTN) NP_597676.3:p.Tyr12754Asn
NM_133437.4:c.38461T>A (TTN) NP_597681.4:p.Tyr12821Asn
NR_038271.1:n.596+13022A>T (TTN-AS1)
NR_038272.1:n.2768-102A>T (TTN-AS1)
XM_011511729.1:c.64177T>A (TTN) XP_011510031.1:p.Tyr21393Asn
XM_011511730.1:c.38071T>A (TTN) XP_011510032.1:p.Tyr12691Asn
XM_011511731.1:c.37930T>A (TTN) XP_011510033.1:p.Tyr12644Asn
XM_017004819.1:c.63973T>A (TTN) XP_016860308.1:p.Tyr21325Asn
XM_017004820.1:c.59371T>A (TTN) XP_016860309.1:p.Tyr19791Asn
XM_017004821.1:c.59368T>A (TTN) XP_016860310.1:p.Tyr19790Asn
XM_017004822.1:c.56410T>A (TTN) XP_016860311.1:p.Tyr18804Asn
XM_017004823.1:c.38026T>A (TTN) XP_016860312.1:p.Tyr12676Asn
XM_024453094.1:c.59521T>A (TTN) XP_024308862.1:p.Tyr19841Asn
XM_024453095.1:c.59518T>A (TTN) XP_024308863.1:p.Tyr19840Asn
XM_024453096.1:c.58951T>A (TTN) XP_024308864.1:p.Tyr19651Asn
XM_024453097.1:c.56293T>A (TTN) XP_024308865.1:p.Tyr18765Asn
XM_024453098.1:c.56212T>A (TTN) XP_024308866.1:p.Tyr18738Asn
XM_024453099.1:c.37975T>A (TTN) XP_024308867.1:p.Tyr12659Asn
XM_024453100.1:c.27829T>A (TTN) XP_024308868.1:p.Tyr9277Asn