Canonical Allele Identifier: CA349411944

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532270T>G , CM000664.2:g.178532270T>G GRCh38
NC_000002.11:g.179396997T>G , CM000664.1:g.179396997T>G GRCh37
NC_000002.10:g.179105243T>G NCBI36
NG_011618.3:g.303533A>C , LRG_391:g.303533A>C
NG_051363.1:g.14444T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96641A>C (TTN) ENSP00000343764.6:p.His32214Pro
ENST00000342175.11:c.77726A>C (TTN) ENSP00000340554.6:p.His25909Pro
ENST00000359218.10:c.77525A>C (TTN) ENSP00000352154.5:p.His25842Pro
ENST00000342175.10:c.77726A>C (TTN) ENSP00000340554.6:p.His25909Pro
ENST00000342992.10:c.96641A>C (TTN) ENSP00000343764.6:p.His32214Pro
ENST00000359218.9:c.77525A>C (TTN) ENSP00000352154.5:p.His25842Pro
ENST00000460472.6:c.77150A>C (TTN) ENSP00000434586.1:p.His25717Pro
ENST00000589042.5:c.104345A>C (TTN) MANE Select ENSP00000467141.1:p.His34782Pro
ENST00000591111.5:c.99422A>C (TTN) ENSP00000465570.1:p.His33141Pro
ENST00000615779.4:c.99422A>C (TTN) ENSP00000483597.1:p.His33141Pro
NM_001256850.1:c.99422A>C (TTN) NP_001243779.1:p.His33141Pro
NM_001267550.2:c.104345A>C (TTN) MANE Select NP_001254479.2:p.His34782Pro
NM_003319.4:c.77150A>C (TTN) NP_003310.4:p.His25717Pro
NM_133378.4:c.96641A>C (TTN) NP_596869.4:p.His32214Pro
NM_133432.3:c.77525A>C (TTN) NP_597676.3:p.His25842Pro
NM_133437.4:c.77726A>C (TTN) NP_597681.4:p.His25909Pro
NR_038271.1:n.446+8634T>G (TTN-AS1)
NR_038272.1:n.220-3462T>G (TTN-AS1)
XM_011511729.1:c.103442A>C (TTN) XP_011510031.1:p.His34481Pro
XM_011511730.1:c.77336A>C (TTN) XP_011510032.1:p.His25779Pro
XM_011511731.1:c.77195A>C (TTN) XP_011510033.1:p.His25732Pro
XM_017004819.1:c.103238A>C (TTN) XP_016860308.1:p.His34413Pro
XM_017004820.1:c.98636A>C (TTN) XP_016860309.1:p.His32879Pro
XM_017004821.1:c.98633A>C (TTN) XP_016860310.1:p.His32878Pro
XM_017004822.1:c.95675A>C (TTN) XP_016860311.1:p.His31892Pro
XM_017004823.1:c.77291A>C (TTN) XP_016860312.1:p.His25764Pro
XM_024453094.1:c.98786A>C (TTN) XP_024308862.1:p.His32929Pro
XM_024453095.1:c.98783A>C (TTN) XP_024308863.1:p.His32928Pro
XM_024453096.1:c.98216A>C (TTN) XP_024308864.1:p.His32739Pro
XM_024453097.1:c.95558A>C (TTN) XP_024308865.1:p.His31853Pro
XM_024453098.1:c.95477A>C (TTN) XP_024308866.1:p.His31826Pro
XM_024453099.1:c.77240A>C (TTN) XP_024308867.1:p.His25747Pro
XM_024453100.1:c.67094A>C (TTN) XP_024308868.1:p.His22365Pro