Canonical Allele Identifier: CA349467431

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546304T>C , CM000664.2:g.178546304T>C GRCh38
NC_000002.11:g.179411031T>C , CM000664.1:g.179411031T>C GRCh37
NC_000002.10:g.179119277T>C NCBI36
NG_011618.3:g.289499A>G , LRG_391:g.289499A>G
NG_051363.1:g.28478T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87323A>G (TTN) ENSP00000343764.6:p.Lys29108Arg
ENST00000342175.11:c.68408A>G (TTN) ENSP00000340554.6:p.Lys22803Arg
ENST00000359218.10:c.68207A>G (TTN) ENSP00000352154.5:p.Lys22736Arg
ENST00000342175.10:c.68408A>G (TTN) ENSP00000340554.6:p.Lys22803Arg
ENST00000342992.10:c.87323A>G (TTN) ENSP00000343764.6:p.Lys29108Arg
ENST00000359218.9:c.68207A>G (TTN) ENSP00000352154.5:p.Lys22736Arg
ENST00000460472.6:c.67832A>G (TTN) ENSP00000434586.1:p.Lys22611Arg
ENST00000589042.5:c.95027A>G (TTN) MANE Select ENSP00000467141.1:p.Lys31676Arg
ENST00000591111.5:c.90104A>G (TTN) ENSP00000465570.1:p.Lys30035Arg
ENST00000615779.4:c.90104A>G (TTN) ENSP00000483597.1:p.Lys30035Arg
NM_001256850.1:c.90104A>G (TTN) NP_001243779.1:p.Lys30035Arg
NM_001267550.2:c.95027A>G (TTN) MANE Select NP_001254479.2:p.Lys31676Arg
NM_003319.4:c.67832A>G (TTN) NP_003310.4:p.Lys22611Arg
NM_133378.4:c.87323A>G (TTN) NP_596869.4:p.Lys29108Arg
NM_133432.3:c.68207A>G (TTN) NP_597676.3:p.Lys22736Arg
NM_133437.4:c.68408A>G (TTN) NP_597681.4:p.Lys22803Arg
NR_038271.1:n.446+22668T>C (TTN-AS1)
NR_038272.1:n.2043+3943T>C (TTN-AS1)
XM_011511729.1:c.94124A>G (TTN) XP_011510031.1:p.Lys31375Arg
XM_011511730.1:c.68018A>G (TTN) XP_011510032.1:p.Lys22673Arg
XM_011511731.1:c.67877A>G (TTN) XP_011510033.1:p.Lys22626Arg
XM_017004819.1:c.93920A>G (TTN) XP_016860308.1:p.Lys31307Arg
XM_017004820.1:c.89318A>G (TTN) XP_016860309.1:p.Lys29773Arg
XM_017004821.1:c.89315A>G (TTN) XP_016860310.1:p.Lys29772Arg
XM_017004822.1:c.86357A>G (TTN) XP_016860311.1:p.Lys28786Arg
XM_017004823.1:c.67973A>G (TTN) XP_016860312.1:p.Lys22658Arg
XM_024453094.1:c.89468A>G (TTN) XP_024308862.1:p.Lys29823Arg
XM_024453095.1:c.89465A>G (TTN) XP_024308863.1:p.Lys29822Arg
XM_024453096.1:c.88898A>G (TTN) XP_024308864.1:p.Lys29633Arg
XM_024453097.1:c.86240A>G (TTN) XP_024308865.1:p.Lys28747Arg
XM_024453098.1:c.86159A>G (TTN) XP_024308866.1:p.Lys28720Arg
XM_024453099.1:c.67922A>G (TTN) XP_024308867.1:p.Lys22641Arg
XM_024453100.1:c.57776A>G (TTN) XP_024308868.1:p.Lys19259Arg