Canonical Allele Identifier: CA349446284

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543332A>T , CM000664.2:g.178543332A>T GRCh38
NC_000002.11:g.179408059A>T , CM000664.1:g.179408059A>T GRCh37
NC_000002.10:g.179116305A>T NCBI36
NG_011618.3:g.292471T>A , LRG_391:g.292471T>A
NG_051363.1:g.25506A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88937T>A (TTN) ENSP00000343764.6:p.Val29646Asp
ENST00000342175.11:c.70022T>A (TTN) ENSP00000340554.6:p.Val23341Asp
ENST00000359218.10:c.69821T>A (TTN) ENSP00000352154.5:p.Val23274Asp
ENST00000342175.10:c.70022T>A (TTN) ENSP00000340554.6:p.Val23341Asp
ENST00000342992.10:c.88937T>A (TTN) ENSP00000343764.6:p.Val29646Asp
ENST00000359218.9:c.69821T>A (TTN) ENSP00000352154.5:p.Val23274Asp
ENST00000460472.6:c.69446T>A (TTN) ENSP00000434586.1:p.Val23149Asp
ENST00000589042.5:c.96641T>A (TTN) MANE Select ENSP00000467141.1:p.Val32214Asp
ENST00000591111.5:c.91718T>A (TTN) ENSP00000465570.1:p.Val30573Asp
ENST00000615779.4:c.91718T>A (TTN) ENSP00000483597.1:p.Val30573Asp
NM_001256850.1:c.91718T>A (TTN) NP_001243779.1:p.Val30573Asp
NM_001267550.2:c.96641T>A (TTN) MANE Select NP_001254479.2:p.Val32214Asp
NM_003319.4:c.69446T>A (TTN) NP_003310.4:p.Val23149Asp
NM_133378.4:c.88937T>A (TTN) NP_596869.4:p.Val29646Asp
NM_133432.3:c.69821T>A (TTN) NP_597676.3:p.Val23274Asp
NM_133437.4:c.70022T>A (TTN) NP_597681.4:p.Val23341Asp
NR_038271.1:n.446+19696A>T (TTN-AS1)
NR_038272.1:n.2043+971A>T (TTN-AS1)
XM_011511729.1:c.95738T>A (TTN) XP_011510031.1:p.Val31913Asp
XM_011511730.1:c.69632T>A (TTN) XP_011510032.1:p.Val23211Asp
XM_011511731.1:c.69491T>A (TTN) XP_011510033.1:p.Val23164Asp
XM_017004819.1:c.95534T>A (TTN) XP_016860308.1:p.Val31845Asp
XM_017004820.1:c.90932T>A (TTN) XP_016860309.1:p.Val30311Asp
XM_017004821.1:c.90929T>A (TTN) XP_016860310.1:p.Val30310Asp
XM_017004822.1:c.87971T>A (TTN) XP_016860311.1:p.Val29324Asp
XM_017004823.1:c.69587T>A (TTN) XP_016860312.1:p.Val23196Asp
XM_024453094.1:c.91082T>A (TTN) XP_024308862.1:p.Val30361Asp
XM_024453095.1:c.91079T>A (TTN) XP_024308863.1:p.Val30360Asp
XM_024453096.1:c.90512T>A (TTN) XP_024308864.1:p.Val30171Asp
XM_024453097.1:c.87854T>A (TTN) XP_024308865.1:p.Val29285Asp
XM_024453098.1:c.87773T>A (TTN) XP_024308866.1:p.Val29258Asp
XM_024453099.1:c.69536T>A (TTN) XP_024308867.1:p.Val23179Asp
XM_024453100.1:c.59390T>A (TTN) XP_024308868.1:p.Val19797Asp