Canonical Allele Identifier: CA349424978

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536063C>A , CM000664.2:g.178536063C>A GRCh38
NC_000002.11:g.179400790C>A , CM000664.1:g.179400790C>A GRCh37
NC_000002.10:g.179109036C>A NCBI36
NG_011618.3:g.299740G>T , LRG_391:g.299740G>T
NG_051363.1:g.18237C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92980G>T (TTN) ENSP00000343764.6:p.Asp30994Tyr
ENST00000342175.11:c.74065G>T (TTN) ENSP00000340554.6:p.Asp24689Tyr
ENST00000359218.10:c.73864G>T (TTN) ENSP00000352154.5:p.Asp24622Tyr
ENST00000342175.10:c.74065G>T (TTN) ENSP00000340554.6:p.Asp24689Tyr
ENST00000342992.10:c.92980G>T (TTN) ENSP00000343764.6:p.Asp30994Tyr
ENST00000359218.9:c.73864G>T (TTN) ENSP00000352154.5:p.Asp24622Tyr
ENST00000460472.6:c.73489G>T (TTN) ENSP00000434586.1:p.Asp24497Tyr
ENST00000589042.5:c.100684G>T (TTN) MANE Select ENSP00000467141.1:p.Asp33562Tyr
ENST00000591111.5:c.95761G>T (TTN) ENSP00000465570.1:p.Asp31921Tyr
ENST00000615779.4:c.95761G>T (TTN) ENSP00000483597.1:p.Asp31921Tyr
NM_001256850.1:c.95761G>T (TTN) NP_001243779.1:p.Asp31921Tyr
NM_001267550.2:c.100684G>T (TTN) MANE Select NP_001254479.2:p.Asp33562Tyr
NM_003319.4:c.73489G>T (TTN) NP_003310.4:p.Asp24497Tyr
NM_133378.4:c.92980G>T (TTN) NP_596869.4:p.Asp30994Tyr
NM_133432.3:c.73864G>T (TTN) NP_597676.3:p.Asp24622Tyr
NM_133437.4:c.74065G>T (TTN) NP_597681.4:p.Asp24689Tyr
NR_038271.1:n.446+12427C>A (TTN-AS1)
NR_038272.1:n.316+235C>A (TTN-AS1)
XM_011511729.1:c.99781G>T (TTN) XP_011510031.1:p.Asp33261Tyr
XM_011511730.1:c.73675G>T (TTN) XP_011510032.1:p.Asp24559Tyr
XM_011511731.1:c.73534G>T (TTN) XP_011510033.1:p.Asp24512Tyr
XM_017004819.1:c.99577G>T (TTN) XP_016860308.1:p.Asp33193Tyr
XM_017004820.1:c.94975G>T (TTN) XP_016860309.1:p.Asp31659Tyr
XM_017004821.1:c.94972G>T (TTN) XP_016860310.1:p.Asp31658Tyr
XM_017004822.1:c.92014G>T (TTN) XP_016860311.1:p.Asp30672Tyr
XM_017004823.1:c.73630G>T (TTN) XP_016860312.1:p.Asp24544Tyr
XM_024453094.1:c.95125G>T (TTN) XP_024308862.1:p.Asp31709Tyr
XM_024453095.1:c.95122G>T (TTN) XP_024308863.1:p.Asp31708Tyr
XM_024453096.1:c.94555G>T (TTN) XP_024308864.1:p.Asp31519Tyr
XM_024453097.1:c.91897G>T (TTN) XP_024308865.1:p.Asp30633Tyr
XM_024453098.1:c.91816G>T (TTN) XP_024308866.1:p.Asp30606Tyr
XM_024453099.1:c.73579G>T (TTN) XP_024308867.1:p.Asp24527Tyr
XM_024453100.1:c.63433G>T (TTN) XP_024308868.1:p.Asp21145Tyr