Canonical Allele Identifier: CA349423555

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579668G>A , CM000664.2:g.178579668G>A GRCh38
NC_000002.11:g.179444395G>A , CM000664.1:g.179444395G>A GRCh37
NC_000002.10:g.179152641G>A NCBI36
NG_011618.3:g.256135C>T , LRG_391:g.256135C>T
NG_051363.1:g.61842G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59825C>T (TTN) ENSP00000343764.6:p.Ala19942Val
ENST00000342175.11:c.40910C>T (TTN) ENSP00000340554.6:p.Ala13637Val
ENST00000359218.10:c.40709C>T (TTN) ENSP00000352154.5:p.Ala13570Val
ENST00000342175.10:c.40910C>T (TTN) ENSP00000340554.6:p.Ala13637Val
ENST00000342992.10:c.59825C>T (TTN) ENSP00000343764.6:p.Ala19942Val
ENST00000359218.9:c.40709C>T (TTN) ENSP00000352154.5:p.Ala13570Val
ENST00000460472.6:c.40334C>T (TTN) ENSP00000434586.1:p.Ala13445Val
ENST00000589042.5:c.67529C>T (TTN) MANE Select ENSP00000467141.1:p.Ala22510Val
ENST00000591111.5:c.62606C>T (TTN) ENSP00000465570.1:p.Ala20869Val
ENST00000615779.4:c.62606C>T (TTN) ENSP00000483597.1:p.Ala20869Val
NM_001256850.1:c.62606C>T (TTN) NP_001243779.1:p.Ala20869Val
NM_001267550.2:c.67529C>T (TTN) MANE Select NP_001254479.2:p.Ala22510Val
NM_003319.4:c.40334C>T (TTN) NP_003310.4:p.Ala13445Val
NM_133378.4:c.59825C>T (TTN) NP_596869.4:p.Ala19942Val
NM_133432.3:c.40709C>T (TTN) NP_597676.3:p.Ala13570Val
NM_133437.4:c.40910C>T (TTN) NP_597681.4:p.Ala13637Val
NR_038271.1:n.596+8219G>A (TTN-AS1)
NR_038272.1:n.2044-2904G>A (TTN-AS1)
XM_011511729.1:c.66626C>T (TTN) XP_011510031.1:p.Ala22209Val
XM_011511730.1:c.40520C>T (TTN) XP_011510032.1:p.Ala13507Val
XM_011511731.1:c.40379C>T (TTN) XP_011510033.1:p.Ala13460Val
XM_017004819.1:c.66422C>T (TTN) XP_016860308.1:p.Ala22141Val
XM_017004820.1:c.61820C>T (TTN) XP_016860309.1:p.Ala20607Val
XM_017004821.1:c.61817C>T (TTN) XP_016860310.1:p.Ala20606Val
XM_017004822.1:c.58859C>T (TTN) XP_016860311.1:p.Ala19620Val
XM_017004823.1:c.40475C>T (TTN) XP_016860312.1:p.Ala13492Val
XM_024453094.1:c.61970C>T (TTN) XP_024308862.1:p.Ala20657Val
XM_024453095.1:c.61967C>T (TTN) XP_024308863.1:p.Ala20656Val
XM_024453096.1:c.61400C>T (TTN) XP_024308864.1:p.Ala20467Val
XM_024453097.1:c.58742C>T (TTN) XP_024308865.1:p.Ala19581Val
XM_024453098.1:c.58661C>T (TTN) XP_024308866.1:p.Ala19554Val
XM_024453099.1:c.40424C>T (TTN) XP_024308867.1:p.Ala13475Val
XM_024453100.1:c.30278C>T (TTN) XP_024308868.1:p.Ala10093Val