Canonical Allele Identifier: CA349502537

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551630C>A , CM000664.2:g.178551630C>A GRCh38
NC_000002.11:g.179416357C>A , CM000664.1:g.179416357C>A GRCh37
NC_000002.10:g.179124603C>A NCBI36
NG_011618.3:g.284173G>T , LRG_391:g.284173G>T
NG_051363.1:g.33804C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83566G>T (TTN) ENSP00000343764.6:p.Asp27856Tyr
ENST00000342175.11:c.64651G>T (TTN) ENSP00000340554.6:p.Asp21551Tyr
ENST00000359218.10:c.64450G>T (TTN) ENSP00000352154.5:p.Asp21484Tyr
ENST00000342175.10:c.64651G>T (TTN) ENSP00000340554.6:p.Asp21551Tyr
ENST00000342992.10:c.83566G>T (TTN) ENSP00000343764.6:p.Asp27856Tyr
ENST00000359218.9:c.64450G>T (TTN) ENSP00000352154.5:p.Asp21484Tyr
ENST00000460472.6:c.64075G>T (TTN) ENSP00000434586.1:p.Asp21359Tyr
ENST00000589042.5:c.91270G>T (TTN) MANE Select ENSP00000467141.1:p.Asp30424Tyr
ENST00000591111.5:c.86347G>T (TTN) ENSP00000465570.1:p.Asp28783Tyr
ENST00000615779.4:c.86347G>T (TTN) ENSP00000483597.1:p.Asp28783Tyr
NM_001256850.1:c.86347G>T (TTN) NP_001243779.1:p.Asp28783Tyr
NM_001267550.2:c.91270G>T (TTN) MANE Select NP_001254479.2:p.Asp30424Tyr
NM_003319.4:c.64075G>T (TTN) NP_003310.4:p.Asp21359Tyr
NM_133378.4:c.83566G>T (TTN) NP_596869.4:p.Asp27856Tyr
NM_133432.3:c.64450G>T (TTN) NP_597676.3:p.Asp21484Tyr
NM_133437.4:c.64651G>T (TTN) NP_597681.4:p.Asp21551Tyr
NR_038271.1:n.447-19670C>A (TTN-AS1)
NR_038272.1:n.2043+9269C>A (TTN-AS1)
XM_011511729.1:c.90367G>T (TTN) XP_011510031.1:p.Asp30123Tyr
XM_011511730.1:c.64261G>T (TTN) XP_011510032.1:p.Asp21421Tyr
XM_011511731.1:c.64120G>T (TTN) XP_011510033.1:p.Asp21374Tyr
XM_017004819.1:c.90163G>T (TTN) XP_016860308.1:p.Asp30055Tyr
XM_017004820.1:c.85561G>T (TTN) XP_016860309.1:p.Asp28521Tyr
XM_017004821.1:c.85558G>T (TTN) XP_016860310.1:p.Asp28520Tyr
XM_017004822.1:c.82600G>T (TTN) XP_016860311.1:p.Asp27534Tyr
XM_017004823.1:c.64216G>T (TTN) XP_016860312.1:p.Asp21406Tyr
XM_024453094.1:c.85711G>T (TTN) XP_024308862.1:p.Asp28571Tyr
XM_024453095.1:c.85708G>T (TTN) XP_024308863.1:p.Asp28570Tyr
XM_024453096.1:c.85141G>T (TTN) XP_024308864.1:p.Asp28381Tyr
XM_024453097.1:c.82483G>T (TTN) XP_024308865.1:p.Asp27495Tyr
XM_024453098.1:c.82402G>T (TTN) XP_024308866.1:p.Asp27468Tyr
XM_024453099.1:c.64165G>T (TTN) XP_024308867.1:p.Asp21389Tyr
XM_024453100.1:c.54019G>T (TTN) XP_024308868.1:p.Asp18007Tyr