Canonical Allele Identifier: CA349450154

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543834C>G , CM000664.2:g.178543834C>G GRCh38
NC_000002.11:g.179408561C>G , CM000664.1:g.179408561C>G GRCh37
NC_000002.10:g.179116807C>G NCBI36
NG_011618.3:g.291969G>C , LRG_391:g.291969G>C
NG_051363.1:g.26008C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88606G>C (TTN) ENSP00000343764.6:p.Asp29536His
ENST00000342175.11:c.69691G>C (TTN) ENSP00000340554.6:p.Asp23231His
ENST00000359218.10:c.69490G>C (TTN) ENSP00000352154.5:p.Asp23164His
ENST00000342175.10:c.69691G>C (TTN) ENSP00000340554.6:p.Asp23231His
ENST00000342992.10:c.88606G>C (TTN) ENSP00000343764.6:p.Asp29536His
ENST00000359218.9:c.69490G>C (TTN) ENSP00000352154.5:p.Asp23164His
ENST00000460472.6:c.69115G>C (TTN) ENSP00000434586.1:p.Asp23039His
ENST00000589042.5:c.96310G>C (TTN) MANE Select ENSP00000467141.1:p.Asp32104His
ENST00000591111.5:c.91387G>C (TTN) ENSP00000465570.1:p.Asp30463His
ENST00000615779.4:c.91387G>C (TTN) ENSP00000483597.1:p.Asp30463His
NM_001256850.1:c.91387G>C (TTN) NP_001243779.1:p.Asp30463His
NM_001267550.2:c.96310G>C (TTN) MANE Select NP_001254479.2:p.Asp32104His
NM_003319.4:c.69115G>C (TTN) NP_003310.4:p.Asp23039His
NM_133378.4:c.88606G>C (TTN) NP_596869.4:p.Asp29536His
NM_133432.3:c.69490G>C (TTN) NP_597676.3:p.Asp23164His
NM_133437.4:c.69691G>C (TTN) NP_597681.4:p.Asp23231His
NR_038271.1:n.446+20198C>G (TTN-AS1)
NR_038272.1:n.2043+1473C>G (TTN-AS1)
XM_011511729.1:c.95407G>C (TTN) XP_011510031.1:p.Asp31803His
XM_011511730.1:c.69301G>C (TTN) XP_011510032.1:p.Asp23101His
XM_011511731.1:c.69160G>C (TTN) XP_011510033.1:p.Asp23054His
XM_017004819.1:c.95203G>C (TTN) XP_016860308.1:p.Asp31735His
XM_017004820.1:c.90601G>C (TTN) XP_016860309.1:p.Asp30201His
XM_017004821.1:c.90598G>C (TTN) XP_016860310.1:p.Asp30200His
XM_017004822.1:c.87640G>C (TTN) XP_016860311.1:p.Asp29214His
XM_017004823.1:c.69256G>C (TTN) XP_016860312.1:p.Asp23086His
XM_024453094.1:c.90751G>C (TTN) XP_024308862.1:p.Asp30251His
XM_024453095.1:c.90748G>C (TTN) XP_024308863.1:p.Asp30250His
XM_024453096.1:c.90181G>C (TTN) XP_024308864.1:p.Asp30061His
XM_024453097.1:c.87523G>C (TTN) XP_024308865.1:p.Asp29175His
XM_024453098.1:c.87442G>C (TTN) XP_024308866.1:p.Asp29148His
XM_024453099.1:c.69205G>C (TTN) XP_024308867.1:p.Asp23069His
XM_024453100.1:c.59059G>C (TTN) XP_024308868.1:p.Asp19687His