Canonical Allele Identifier: CA349541181

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601545T>G , CM000664.2:g.178601545T>G GRCh38
NC_000002.11:g.179466272T>G , CM000664.1:g.179466272T>G GRCh37
NC_000002.10:g.179174517T>G NCBI36
NG_011618.3:g.234258A>C , LRG_391:g.234258A>C
NG_051363.1:g.83719T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47748A>C (TTN) ENSP00000343764.6:p.Lys15916Asn
ENST00000342175.11:c.28833A>C (TTN) ENSP00000340554.6:p.Lys9611Asn
ENST00000359218.10:c.28632A>C (TTN) ENSP00000352154.5:p.Lys9544Asn
ENST00000342175.10:c.28833A>C (TTN) ENSP00000340554.6:p.Lys9611Asn
ENST00000342992.10:c.47748A>C (TTN) ENSP00000343764.6:p.Lys15916Asn
ENST00000359218.9:c.28632A>C (TTN) ENSP00000352154.5:p.Lys9544Asn
ENST00000460472.6:c.28257A>C (TTN) ENSP00000434586.1:p.Lys9419Asn
ENST00000589042.5:c.55452A>C (TTN) MANE Select ENSP00000467141.1:p.Lys18484Asn
ENST00000591111.5:c.50529A>C (TTN) ENSP00000465570.1:p.Lys16843Asn
ENST00000615779.4:c.50529A>C (TTN) ENSP00000483597.1:p.Lys16843Asn
NM_001256850.1:c.50529A>C (TTN) NP_001243779.1:p.Lys16843Asn
NM_001267550.2:c.55452A>C (TTN) MANE Select NP_001254479.2:p.Lys18484Asn
NM_003319.4:c.28257A>C (TTN) NP_003310.4:p.Lys9419Asn
NM_133378.4:c.47748A>C (TTN) NP_596869.4:p.Lys15916Asn
NM_133432.3:c.28632A>C (TTN) NP_597676.3:p.Lys9544Asn
NM_133437.4:c.28833A>C (TTN) NP_597681.4:p.Lys9611Asn
NR_038271.1:n.682+3864T>G (TTN-AS1)
NR_038272.1:n.3917+878T>G (TTN-AS1)
XM_011511729.1:c.54549A>C (TTN) XP_011510031.1:p.Lys18183Asn
XM_011511730.1:c.28443A>C (TTN) XP_011510032.1:p.Lys9481Asn
XM_011511731.1:c.28302A>C (TTN) XP_011510033.1:p.Lys9434Asn
XM_017004819.1:c.54345A>C (TTN) XP_016860308.1:p.Lys18115Asn
XM_017004820.1:c.49743A>C (TTN) XP_016860309.1:p.Lys16581Asn
XM_017004821.1:c.49740A>C (TTN) XP_016860310.1:p.Lys16580Asn
XM_017004822.1:c.46782A>C (TTN) XP_016860311.1:p.Lys15594Asn
XM_017004823.1:c.28398A>C (TTN) XP_016860312.1:p.Lys9466Asn
XM_024453094.1:c.49893A>C (TTN) XP_024308862.1:p.Lys16631Asn
XM_024453095.1:c.49890A>C (TTN) XP_024308863.1:p.Lys16630Asn
XM_024453096.1:c.49323A>C (TTN) XP_024308864.1:p.Lys16441Asn
XM_024453097.1:c.46665A>C (TTN) XP_024308865.1:p.Lys15555Asn
XM_024453098.1:c.46584A>C (TTN) XP_024308866.1:p.Lys15528Asn
XM_024453099.1:c.28347A>C (TTN) XP_024308867.1:p.Lys9449Asn
XM_024453100.1:c.18201A>C (TTN) XP_024308868.1:p.Lys6067Asn