Canonical Allele Identifier: CA349504209

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551852A>T , CM000664.2:g.178551852A>T GRCh38
NC_000002.11:g.179416579A>T , CM000664.1:g.179416579A>T GRCh37
NC_000002.10:g.179124825A>T NCBI36
NG_011618.3:g.283951T>A , LRG_391:g.283951T>A
NG_051363.1:g.34026A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83344T>A (TTN) ENSP00000343764.6:p.Tyr27782Asn
ENST00000342175.11:c.64429T>A (TTN) ENSP00000340554.6:p.Tyr21477Asn
ENST00000359218.10:c.64228T>A (TTN) ENSP00000352154.5:p.Tyr21410Asn
ENST00000342175.10:c.64429T>A (TTN) ENSP00000340554.6:p.Tyr21477Asn
ENST00000342992.10:c.83344T>A (TTN) ENSP00000343764.6:p.Tyr27782Asn
ENST00000359218.9:c.64228T>A (TTN) ENSP00000352154.5:p.Tyr21410Asn
ENST00000460472.6:c.63853T>A (TTN) ENSP00000434586.1:p.Tyr21285Asn
ENST00000589042.5:c.91048T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr30350Asn
ENST00000591111.5:c.86125T>A (TTN) ENSP00000465570.1:p.Tyr28709Asn
ENST00000615779.4:c.86125T>A (TTN) ENSP00000483597.1:p.Tyr28709Asn
NM_001256850.1:c.86125T>A (TTN) NP_001243779.1:p.Tyr28709Asn
NM_001267550.2:c.91048T>A (TTN) MANE Select NP_001254479.2:p.Tyr30350Asn
NM_003319.4:c.63853T>A (TTN) NP_003310.4:p.Tyr21285Asn
NM_133378.4:c.83344T>A (TTN) NP_596869.4:p.Tyr27782Asn
NM_133432.3:c.64228T>A (TTN) NP_597676.3:p.Tyr21410Asn
NM_133437.4:c.64429T>A (TTN) NP_597681.4:p.Tyr21477Asn
NR_038271.1:n.447-19448A>T (TTN-AS1)
NR_038272.1:n.2043+9491A>T (TTN-AS1)
XM_011511729.1:c.90145T>A (TTN) XP_011510031.1:p.Tyr30049Asn
XM_011511730.1:c.64039T>A (TTN) XP_011510032.1:p.Tyr21347Asn
XM_011511731.1:c.63898T>A (TTN) XP_011510033.1:p.Tyr21300Asn
XM_017004819.1:c.89941T>A (TTN) XP_016860308.1:p.Tyr29981Asn
XM_017004820.1:c.85339T>A (TTN) XP_016860309.1:p.Tyr28447Asn
XM_017004821.1:c.85336T>A (TTN) XP_016860310.1:p.Tyr28446Asn
XM_017004822.1:c.82378T>A (TTN) XP_016860311.1:p.Tyr27460Asn
XM_017004823.1:c.63994T>A (TTN) XP_016860312.1:p.Tyr21332Asn
XM_024453094.1:c.85489T>A (TTN) XP_024308862.1:p.Tyr28497Asn
XM_024453095.1:c.85486T>A (TTN) XP_024308863.1:p.Tyr28496Asn
XM_024453096.1:c.84919T>A (TTN) XP_024308864.1:p.Tyr28307Asn
XM_024453097.1:c.82261T>A (TTN) XP_024308865.1:p.Tyr27421Asn
XM_024453098.1:c.82180T>A (TTN) XP_024308866.1:p.Tyr27394Asn
XM_024453099.1:c.63943T>A (TTN) XP_024308867.1:p.Tyr21315Asn
XM_024453100.1:c.53797T>A (TTN) XP_024308868.1:p.Tyr17933Asn