Canonical Allele Identifier: CA349601413

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567407A>T , CM000664.2:g.178567407A>T GRCh38
NC_000002.11:g.179432134A>T , CM000664.1:g.179432134A>T GRCh37
NC_000002.10:g.179140380A>T NCBI36
NG_011618.3:g.268396T>A , LRG_391:g.268396T>A
NG_051363.1:g.49581A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.71021T>A (TTN) ENSP00000343764.6:p.Ile23674Lys
ENST00000342175.11:c.52106T>A (TTN) ENSP00000340554.6:p.Ile17369Lys
ENST00000359218.10:c.51905T>A (TTN) ENSP00000352154.5:p.Ile17302Lys
ENST00000342175.10:c.52106T>A (TTN) ENSP00000340554.6:p.Ile17369Lys
ENST00000342992.10:c.71021T>A (TTN) ENSP00000343764.6:p.Ile23674Lys
ENST00000359218.9:c.51905T>A (TTN) ENSP00000352154.5:p.Ile17302Lys
ENST00000460472.6:c.51530T>A (TTN) ENSP00000434586.1:p.Ile17177Lys
ENST00000589042.5:c.78725T>A (TTN) MANE Select ENSP00000467141.1:p.Ile26242Lys
ENST00000591111.5:c.73802T>A (TTN) ENSP00000465570.1:p.Ile24601Lys
ENST00000615779.4:c.73802T>A (TTN) ENSP00000483597.1:p.Ile24601Lys
NM_001256850.1:c.73802T>A (TTN) NP_001243779.1:p.Ile24601Lys
NM_001267550.2:c.78725T>A (TTN) MANE Select NP_001254479.2:p.Ile26242Lys
NM_003319.4:c.51530T>A (TTN) NP_003310.4:p.Ile17177Lys
NM_133378.4:c.71021T>A (TTN) NP_596869.4:p.Ile23674Lys
NM_133432.3:c.51905T>A (TTN) NP_597676.3:p.Ile17302Lys
NM_133437.4:c.52106T>A (TTN) NP_597681.4:p.Ile17369Lys
NR_038271.1:n.447-3893A>T (TTN-AS1)
NR_038272.1:n.2044-15165A>T (TTN-AS1)
XM_011511729.1:c.77822T>A (TTN) XP_011510031.1:p.Ile25941Lys
XM_011511730.1:c.51716T>A (TTN) XP_011510032.1:p.Ile17239Lys
XM_011511731.1:c.51575T>A (TTN) XP_011510033.1:p.Ile17192Lys
XM_017004819.1:c.77618T>A (TTN) XP_016860308.1:p.Ile25873Lys
XM_017004820.1:c.73016T>A (TTN) XP_016860309.1:p.Ile24339Lys
XM_017004821.1:c.73013T>A (TTN) XP_016860310.1:p.Ile24338Lys
XM_017004822.1:c.70055T>A (TTN) XP_016860311.1:p.Ile23352Lys
XM_017004823.1:c.51671T>A (TTN) XP_016860312.1:p.Ile17224Lys
XM_024453094.1:c.73166T>A (TTN) XP_024308862.1:p.Ile24389Lys
XM_024453095.1:c.73163T>A (TTN) XP_024308863.1:p.Ile24388Lys
XM_024453096.1:c.72596T>A (TTN) XP_024308864.1:p.Ile24199Lys
XM_024453097.1:c.69938T>A (TTN) XP_024308865.1:p.Ile23313Lys
XM_024453098.1:c.69857T>A (TTN) XP_024308866.1:p.Ile23286Lys
XM_024453099.1:c.51620T>A (TTN) XP_024308867.1:p.Ile17207Lys
XM_024453100.1:c.41474T>A (TTN) XP_024308868.1:p.Ile13825Lys