Canonical Allele Identifier: CA349535042

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557708T>G , CM000664.2:g.178557708T>G GRCh38
NC_000002.11:g.179422435T>G , CM000664.1:g.179422435T>G GRCh37
NC_000002.10:g.179130681T>G NCBI36
NG_011618.3:g.278095A>C , LRG_391:g.278095A>C
NG_051363.1:g.39882T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79942A>C (TTN) ENSP00000343764.6:p.Asn26648His
ENST00000342175.11:c.61027A>C (TTN) ENSP00000340554.6:p.Asn20343His
ENST00000359218.10:c.60826A>C (TTN) ENSP00000352154.5:p.Asn20276His
ENST00000342175.10:c.61027A>C (TTN) ENSP00000340554.6:p.Asn20343His
ENST00000342992.10:c.79942A>C (TTN) ENSP00000343764.6:p.Asn26648His
ENST00000359218.9:c.60826A>C (TTN) ENSP00000352154.5:p.Asn20276His
ENST00000460472.6:c.60451A>C (TTN) ENSP00000434586.1:p.Asn20151His
ENST00000589042.5:c.87646A>C (TTN) MANE Select ENSP00000467141.1:p.Asn29216His
ENST00000591111.5:c.82723A>C (TTN) ENSP00000465570.1:p.Asn27575His
ENST00000615779.4:c.82723A>C (TTN) ENSP00000483597.1:p.Asn27575His
NM_001256850.1:c.82723A>C (TTN) NP_001243779.1:p.Asn27575His
NM_001267550.2:c.87646A>C (TTN) MANE Select NP_001254479.2:p.Asn29216His
NM_003319.4:c.60451A>C (TTN) NP_003310.4:p.Asn20151His
NM_133378.4:c.79942A>C (TTN) NP_596869.4:p.Asn26648His
NM_133432.3:c.60826A>C (TTN) NP_597676.3:p.Asn20276His
NM_133437.4:c.61027A>C (TTN) NP_597681.4:p.Asn20343His
NR_038271.1:n.447-13592T>G (TTN-AS1)
NR_038272.1:n.2043+15347T>G (TTN-AS1)
XM_011511729.1:c.86743A>C (TTN) XP_011510031.1:p.Asn28915His
XM_011511730.1:c.60637A>C (TTN) XP_011510032.1:p.Asn20213His
XM_011511731.1:c.60496A>C (TTN) XP_011510033.1:p.Asn20166His
XM_017004819.1:c.86539A>C (TTN) XP_016860308.1:p.Asn28847His
XM_017004820.1:c.81937A>C (TTN) XP_016860309.1:p.Asn27313His
XM_017004821.1:c.81934A>C (TTN) XP_016860310.1:p.Asn27312His
XM_017004822.1:c.78976A>C (TTN) XP_016860311.1:p.Asn26326His
XM_017004823.1:c.60592A>C (TTN) XP_016860312.1:p.Asn20198His
XM_024453094.1:c.82087A>C (TTN) XP_024308862.1:p.Asn27363His
XM_024453095.1:c.82084A>C (TTN) XP_024308863.1:p.Asn27362His
XM_024453096.1:c.81517A>C (TTN) XP_024308864.1:p.Asn27173His
XM_024453097.1:c.78859A>C (TTN) XP_024308865.1:p.Asn26287His
XM_024453098.1:c.78778A>C (TTN) XP_024308866.1:p.Asn26260His
XM_024453099.1:c.60541A>C (TTN) XP_024308867.1:p.Asn20181His
XM_024453100.1:c.50395A>C (TTN) XP_024308868.1:p.Asn16799His