Canonical Allele Identifier: CA349424979

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92980G>A (TTN) ENSP00000343764.6:p.Asp30994Asn
ENST00000342175.11:c.74065G>A (TTN) ENSP00000340554.6:p.Asp24689Asn
ENST00000359218.10:c.73864G>A (TTN) ENSP00000352154.5:p.Asp24622Asn
ENST00000342175.10:c.74065G>A (TTN) ENSP00000340554.6:p.Asp24689Asn
ENST00000342992.10:c.92980G>A (TTN) ENSP00000343764.6:p.Asp30994Asn
ENST00000359218.9:c.73864G>A (TTN) ENSP00000352154.5:p.Asp24622Asn
ENST00000460472.6:c.73489G>A (TTN) ENSP00000434586.1:p.Asp24497Asn
ENST00000589042.5:c.100684G>A (TTN) MANE Select ENSP00000467141.1:p.Asp33562Asn
ENST00000591111.5:c.95761G>A (TTN) ENSP00000465570.1:p.Asp31921Asn
ENST00000615779.4:c.95761G>A (TTN) ENSP00000483597.1:p.Asp31921Asn
NM_001256850.1:c.95761G>A (TTN) NP_001243779.1:p.Asp31921Asn
NM_001267550.2:c.100684G>A (TTN) MANE Select NP_001254479.2:p.Asp33562Asn
NM_003319.4:c.73489G>A (TTN) NP_003310.4:p.Asp24497Asn
NM_133378.4:c.92980G>A (TTN) NP_596869.4:p.Asp30994Asn
NM_133432.3:c.73864G>A (TTN) NP_597676.3:p.Asp24622Asn
NM_133437.4:c.74065G>A (TTN) NP_597681.4:p.Asp24689Asn
NR_038271.1:n.446+12427C>T (TTN-AS1)
NR_038272.1:n.316+235C>T (TTN-AS1)
XM_011511729.1:c.99781G>A (TTN) XP_011510031.1:p.Asp33261Asn
XM_011511730.1:c.73675G>A (TTN) XP_011510032.1:p.Asp24559Asn
XM_011511731.1:c.73534G>A (TTN) XP_011510033.1:p.Asp24512Asn
XM_017004819.1:c.99577G>A (TTN) XP_016860308.1:p.Asp33193Asn
XM_017004820.1:c.94975G>A (TTN) XP_016860309.1:p.Asp31659Asn
XM_017004821.1:c.94972G>A (TTN) XP_016860310.1:p.Asp31658Asn
XM_017004822.1:c.92014G>A (TTN) XP_016860311.1:p.Asp30672Asn
XM_017004823.1:c.73630G>A (TTN) XP_016860312.1:p.Asp24544Asn
XM_024453094.1:c.95125G>A (TTN) XP_024308862.1:p.Asp31709Asn
XM_024453095.1:c.95122G>A (TTN) XP_024308863.1:p.Asp31708Asn
XM_024453096.1:c.94555G>A (TTN) XP_024308864.1:p.Asp31519Asn
XM_024453097.1:c.91897G>A (TTN) XP_024308865.1:p.Asp30633Asn
XM_024453098.1:c.91816G>A (TTN) XP_024308866.1:p.Asp30606Asn
XM_024453099.1:c.73579G>A (TTN) XP_024308867.1:p.Asp24527Asn
XM_024453100.1:c.63433G>A (TTN) XP_024308868.1:p.Asp21145Asn