Canonical Allele Identifier: CA349405296

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530059C>T , CM000664.2:g.178530059C>T GRCh38
NC_000002.11:g.179394786C>T , CM000664.1:g.179394786C>T GRCh37
NC_000002.10:g.179103032C>T NCBI36
NG_011618.3:g.305744G>A , LRG_391:g.305744G>A
NG_051363.1:g.12233C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98728G>A (TTN) ENSP00000343764.6:p.Glu32910Lys
ENST00000342175.11:c.79813G>A (TTN) ENSP00000340554.6:p.Glu26605Lys
ENST00000359218.10:c.79612G>A (TTN) ENSP00000352154.5:p.Glu26538Lys
ENST00000342175.10:c.79813G>A (TTN) ENSP00000340554.6:p.Glu26605Lys
ENST00000342992.10:c.98728G>A (TTN) ENSP00000343764.6:p.Glu32910Lys
ENST00000359218.9:c.79612G>A (TTN) ENSP00000352154.5:p.Glu26538Lys
ENST00000460472.6:c.79237G>A (TTN) ENSP00000434586.1:p.Glu26413Lys
ENST00000589042.5:c.106432G>A (TTN) MANE Select ENSP00000467141.1:p.Glu35478Lys
ENST00000591111.5:c.101509G>A (TTN) ENSP00000465570.1:p.Glu33837Lys
ENST00000615779.4:c.101509G>A (TTN) ENSP00000483597.1:p.Glu33837Lys
NM_001256850.1:c.101509G>A (TTN) NP_001243779.1:p.Glu33837Lys
NM_001267550.2:c.106432G>A (TTN) MANE Select NP_001254479.2:p.Glu35478Lys
NM_003319.4:c.79237G>A (TTN) NP_003310.4:p.Glu26413Lys
NM_133378.4:c.98728G>A (TTN) NP_596869.4:p.Glu32910Lys
NM_133432.3:c.79612G>A (TTN) NP_597676.3:p.Glu26538Lys
NM_133437.4:c.79813G>A (TTN) NP_597681.4:p.Glu26605Lys
NR_038271.1:n.446+6423C>T (TTN-AS1)
NR_038272.1:n.220-5673C>T (TTN-AS1)
XM_011511729.1:c.105529G>A (TTN) XP_011510031.1:p.Glu35177Lys
XM_011511730.1:c.79423G>A (TTN) XP_011510032.1:p.Glu26475Lys
XM_011511731.1:c.79282G>A (TTN) XP_011510033.1:p.Glu26428Lys
XM_017004819.1:c.105325G>A (TTN) XP_016860308.1:p.Glu35109Lys
XM_017004820.1:c.100723G>A (TTN) XP_016860309.1:p.Glu33575Lys
XM_017004821.1:c.100720G>A (TTN) XP_016860310.1:p.Glu33574Lys
XM_017004822.1:c.97762G>A (TTN) XP_016860311.1:p.Glu32588Lys
XM_017004823.1:c.79378G>A (TTN) XP_016860312.1:p.Glu26460Lys
XM_024453094.1:c.100873G>A (TTN) XP_024308862.1:p.Glu33625Lys
XM_024453095.1:c.100870G>A (TTN) XP_024308863.1:p.Glu33624Lys
XM_024453096.1:c.100303G>A (TTN) XP_024308864.1:p.Glu33435Lys
XM_024453097.1:c.97645G>A (TTN) XP_024308865.1:p.Glu32549Lys
XM_024453098.1:c.97564G>A (TTN) XP_024308866.1:p.Glu32522Lys
XM_024453099.1:c.79327G>A (TTN) XP_024308867.1:p.Glu26443Lys
XM_024453100.1:c.69181G>A (TTN) XP_024308868.1:p.Glu23061Lys