Canonical Allele Identifier: CA349647806

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573874A>T , CM000664.2:g.178573874A>T GRCh38
NC_000002.11:g.179438601A>T , CM000664.1:g.179438601A>T GRCh37
NC_000002.10:g.179146847A>T NCBI36
NG_011618.3:g.261929T>A , LRG_391:g.261929T>A
NG_051363.1:g.56048A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64554T>A (TTN) ENSP00000343764.6:p.Asn21518Lys
ENST00000342175.11:c.45639T>A (TTN) ENSP00000340554.6:p.Asn15213Lys
ENST00000359218.10:c.45438T>A (TTN) ENSP00000352154.5:p.Asn15146Lys
ENST00000342175.10:c.45639T>A (TTN) ENSP00000340554.6:p.Asn15213Lys
ENST00000342992.10:c.64554T>A (TTN) ENSP00000343764.6:p.Asn21518Lys
ENST00000359218.9:c.45438T>A (TTN) ENSP00000352154.5:p.Asn15146Lys
ENST00000460472.6:c.45063T>A (TTN) ENSP00000434586.1:p.Asn15021Lys
ENST00000589042.5:c.72258T>A (TTN) MANE Select ENSP00000467141.1:p.Asn24086Lys
ENST00000591111.5:c.67335T>A (TTN) ENSP00000465570.1:p.Asn22445Lys
ENST00000615779.4:c.67335T>A (TTN) ENSP00000483597.1:p.Asn22445Lys
NM_001256850.1:c.67335T>A (TTN) NP_001243779.1:p.Asn22445Lys
NM_001267550.2:c.72258T>A (TTN) MANE Select NP_001254479.2:p.Asn24086Lys
NM_003319.4:c.45063T>A (TTN) NP_003310.4:p.Asn15021Lys
NM_133378.4:c.64554T>A (TTN) NP_596869.4:p.Asn21518Lys
NM_133432.3:c.45438T>A (TTN) NP_597676.3:p.Asn15146Lys
NM_133437.4:c.45639T>A (TTN) NP_597681.4:p.Asn15213Lys
NR_038271.1:n.596+2425A>T (TTN-AS1)
NR_038272.1:n.2044-8698A>T (TTN-AS1)
XM_011511729.1:c.71355T>A (TTN) XP_011510031.1:p.Asn23785Lys
XM_011511730.1:c.45249T>A (TTN) XP_011510032.1:p.Asn15083Lys
XM_011511731.1:c.45108T>A (TTN) XP_011510033.1:p.Asn15036Lys
XM_017004819.1:c.71151T>A (TTN) XP_016860308.1:p.Asn23717Lys
XM_017004820.1:c.66549T>A (TTN) XP_016860309.1:p.Asn22183Lys
XM_017004821.1:c.66546T>A (TTN) XP_016860310.1:p.Asn22182Lys
XM_017004822.1:c.63588T>A (TTN) XP_016860311.1:p.Asn21196Lys
XM_017004823.1:c.45204T>A (TTN) XP_016860312.1:p.Asn15068Lys
XM_024453094.1:c.66699T>A (TTN) XP_024308862.1:p.Asn22233Lys
XM_024453095.1:c.66696T>A (TTN) XP_024308863.1:p.Asn22232Lys
XM_024453096.1:c.66129T>A (TTN) XP_024308864.1:p.Asn22043Lys
XM_024453097.1:c.63471T>A (TTN) XP_024308865.1:p.Asn21157Lys
XM_024453098.1:c.63390T>A (TTN) XP_024308866.1:p.Asn21130Lys
XM_024453099.1:c.45153T>A (TTN) XP_024308867.1:p.Asn15051Lys
XM_024453100.1:c.35007T>A (TTN) XP_024308868.1:p.Asn11669Lys