Canonical Allele Identifier: CA349544810

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559829G>A , CM000664.2:g.178559829G>A GRCh38
NC_000002.11:g.179424556G>A , CM000664.1:g.179424556G>A GRCh37
NC_000002.10:g.179132802G>A NCBI36
NG_011618.3:g.275974C>T , LRG_391:g.275974C>T
NG_051363.1:g.42003G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78599C>T (TTN) ENSP00000343764.6:p.Ala26200Val
ENST00000342175.11:c.59684C>T (TTN) ENSP00000340554.6:p.Ala19895Val
ENST00000359218.10:c.59483C>T (TTN) ENSP00000352154.5:p.Ala19828Val
ENST00000342175.10:c.59684C>T (TTN) ENSP00000340554.6:p.Ala19895Val
ENST00000342992.10:c.78599C>T (TTN) ENSP00000343764.6:p.Ala26200Val
ENST00000359218.9:c.59483C>T (TTN) ENSP00000352154.5:p.Ala19828Val
ENST00000460472.6:c.59108C>T (TTN) ENSP00000434586.1:p.Ala19703Val
ENST00000589042.5:c.86303C>T (TTN) MANE Select ENSP00000467141.1:p.Ala28768Val
ENST00000591111.5:c.81380C>T (TTN) ENSP00000465570.1:p.Ala27127Val
ENST00000615779.4:c.81380C>T (TTN) ENSP00000483597.1:p.Ala27127Val
NM_001256850.1:c.81380C>T (TTN) NP_001243779.1:p.Ala27127Val
NM_001267550.2:c.86303C>T (TTN) MANE Select NP_001254479.2:p.Ala28768Val
NM_003319.4:c.59108C>T (TTN) NP_003310.4:p.Ala19703Val
NM_133378.4:c.78599C>T (TTN) NP_596869.4:p.Ala26200Val
NM_133432.3:c.59483C>T (TTN) NP_597676.3:p.Ala19828Val
NM_133437.4:c.59684C>T (TTN) NP_597681.4:p.Ala19895Val
NR_038271.1:n.447-11471G>A (TTN-AS1)
NR_038272.1:n.2043+17468G>A (TTN-AS1)
XM_011511729.1:c.85400C>T (TTN) XP_011510031.1:p.Ala28467Val
XM_011511730.1:c.59294C>T (TTN) XP_011510032.1:p.Ala19765Val
XM_011511731.1:c.59153C>T (TTN) XP_011510033.1:p.Ala19718Val
XM_017004819.1:c.85196C>T (TTN) XP_016860308.1:p.Ala28399Val
XM_017004820.1:c.80594C>T (TTN) XP_016860309.1:p.Ala26865Val
XM_017004821.1:c.80591C>T (TTN) XP_016860310.1:p.Ala26864Val
XM_017004822.1:c.77633C>T (TTN) XP_016860311.1:p.Ala25878Val
XM_017004823.1:c.59249C>T (TTN) XP_016860312.1:p.Ala19750Val
XM_024453094.1:c.80744C>T (TTN) XP_024308862.1:p.Ala26915Val
XM_024453095.1:c.80741C>T (TTN) XP_024308863.1:p.Ala26914Val
XM_024453096.1:c.80174C>T (TTN) XP_024308864.1:p.Ala26725Val
XM_024453097.1:c.77516C>T (TTN) XP_024308865.1:p.Ala25839Val
XM_024453098.1:c.77435C>T (TTN) XP_024308866.1:p.Ala25812Val
XM_024453099.1:c.59198C>T (TTN) XP_024308867.1:p.Ala19733Val
XM_024453100.1:c.49052C>T (TTN) XP_024308868.1:p.Ala16351Val