Canonical Allele Identifier: CA349568912

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607682G>T , CM000664.2:g.178607682G>T GRCh38
NC_000002.11:g.179472409G>T , CM000664.1:g.179472409G>T GRCh37
NC_000002.10:g.179180654G>T NCBI36
NG_011618.3:g.228121C>A , LRG_391:g.228121C>A
NG_051363.1:g.89856G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.45302C>A (TTN) ENSP00000343764.6:p.Pro15101His
ENST00000342175.11:c.26387C>A (TTN) ENSP00000340554.6:p.Pro8796His
ENST00000359218.10:c.26186C>A (TTN) ENSP00000352154.5:p.Pro8729His
ENST00000342175.10:c.26387C>A (TTN) ENSP00000340554.6:p.Pro8796His
ENST00000342992.10:c.45302C>A (TTN) ENSP00000343764.6:p.Pro15101His
ENST00000359218.9:c.26186C>A (TTN) ENSP00000352154.5:p.Pro8729His
ENST00000460472.6:c.25811C>A (TTN) ENSP00000434586.1:p.Pro8604His
ENST00000589042.5:c.53006C>A (TTN) MANE Select ENSP00000467141.1:p.Pro17669His
ENST00000591111.5:c.48083C>A (TTN) ENSP00000465570.1:p.Pro16028His
ENST00000615779.4:c.48083C>A (TTN) ENSP00000483597.1:p.Pro16028His
NM_001256850.1:c.48083C>A (TTN) NP_001243779.1:p.Pro16028His
NM_001267550.2:c.53006C>A (TTN) MANE Select NP_001254479.2:p.Pro17669His
NM_003319.4:c.25811C>A (TTN) NP_003310.4:p.Pro8604His
NM_133378.4:c.45302C>A (TTN) NP_596869.4:p.Pro15101His
NM_133432.3:c.26186C>A (TTN) NP_597676.3:p.Pro8729His
NM_133437.4:c.26387C>A (TTN) NP_597681.4:p.Pro8796His
NR_038271.1:n.683-485G>T (TTN-AS1)
XM_011511729.1:c.52103C>A (TTN) XP_011510031.1:p.Pro17368His
XM_011511730.1:c.25997C>A (TTN) XP_011510032.1:p.Pro8666His
XM_011511731.1:c.25856C>A (TTN) XP_011510033.1:p.Pro8619His
XM_017004819.1:c.51899C>A (TTN) XP_016860308.1:p.Pro17300His
XM_017004820.1:c.47297C>A (TTN) XP_016860309.1:p.Pro15766His
XM_017004821.1:c.47294C>A (TTN) XP_016860310.1:p.Pro15765His
XM_017004822.1:c.44336C>A (TTN) XP_016860311.1:p.Pro14779His
XM_017004823.1:c.25952C>A (TTN) XP_016860312.1:p.Pro8651His
XM_024453094.1:c.47447C>A (TTN) XP_024308862.1:p.Pro15816His
XM_024453095.1:c.47444C>A (TTN) XP_024308863.1:p.Pro15815His
XM_024453096.1:c.46877C>A (TTN) XP_024308864.1:p.Pro15626His
XM_024453097.1:c.44219C>A (TTN) XP_024308865.1:p.Pro14740His
XM_024453098.1:c.44138C>A (TTN) XP_024308866.1:p.Pro14713His
XM_024453099.1:c.25901C>A (TTN) XP_024308867.1:p.Pro8634His
XM_024453100.1:c.15755C>A (TTN) XP_024308868.1:p.Pro5252His