Canonical Allele Identifier: CA349450733

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543875T>A , CM000664.2:g.178543875T>A GRCh38
NC_000002.11:g.179408602T>A , CM000664.1:g.179408602T>A GRCh37
NC_000002.10:g.179116848T>A NCBI36
NG_011618.3:g.291928A>T , LRG_391:g.291928A>T
NG_051363.1:g.26049T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88565A>T (TTN) ENSP00000343764.6:p.Gln29522Leu
ENST00000342175.11:c.69650A>T (TTN) ENSP00000340554.6:p.Gln23217Leu
ENST00000359218.10:c.69449A>T (TTN) ENSP00000352154.5:p.Gln23150Leu
ENST00000342175.10:c.69650A>T (TTN) ENSP00000340554.6:p.Gln23217Leu
ENST00000342992.10:c.88565A>T (TTN) ENSP00000343764.6:p.Gln29522Leu
ENST00000359218.9:c.69449A>T (TTN) ENSP00000352154.5:p.Gln23150Leu
ENST00000460472.6:c.69074A>T (TTN) ENSP00000434586.1:p.Gln23025Leu
ENST00000589042.5:c.96269A>T (TTN) MANE Select ENSP00000467141.1:p.Gln32090Leu
ENST00000591111.5:c.91346A>T (TTN) ENSP00000465570.1:p.Gln30449Leu
ENST00000615779.4:c.91346A>T (TTN) ENSP00000483597.1:p.Gln30449Leu
NM_001256850.1:c.91346A>T (TTN) NP_001243779.1:p.Gln30449Leu
NM_001267550.2:c.96269A>T (TTN) MANE Select NP_001254479.2:p.Gln32090Leu
NM_003319.4:c.69074A>T (TTN) NP_003310.4:p.Gln23025Leu
NM_133378.4:c.88565A>T (TTN) NP_596869.4:p.Gln29522Leu
NM_133432.3:c.69449A>T (TTN) NP_597676.3:p.Gln23150Leu
NM_133437.4:c.69650A>T (TTN) NP_597681.4:p.Gln23217Leu
NR_038271.1:n.446+20239T>A (TTN-AS1)
NR_038272.1:n.2043+1514T>A (TTN-AS1)
XM_011511729.1:c.95366A>T (TTN) XP_011510031.1:p.Gln31789Leu
XM_011511730.1:c.69260A>T (TTN) XP_011510032.1:p.Gln23087Leu
XM_011511731.1:c.69119A>T (TTN) XP_011510033.1:p.Gln23040Leu
XM_017004819.1:c.95162A>T (TTN) XP_016860308.1:p.Gln31721Leu
XM_017004820.1:c.90560A>T (TTN) XP_016860309.1:p.Gln30187Leu
XM_017004821.1:c.90557A>T (TTN) XP_016860310.1:p.Gln30186Leu
XM_017004822.1:c.87599A>T (TTN) XP_016860311.1:p.Gln29200Leu
XM_017004823.1:c.69215A>T (TTN) XP_016860312.1:p.Gln23072Leu
XM_024453094.1:c.90710A>T (TTN) XP_024308862.1:p.Gln30237Leu
XM_024453095.1:c.90707A>T (TTN) XP_024308863.1:p.Gln30236Leu
XM_024453096.1:c.90140A>T (TTN) XP_024308864.1:p.Gln30047Leu
XM_024453097.1:c.87482A>T (TTN) XP_024308865.1:p.Gln29161Leu
XM_024453098.1:c.87401A>T (TTN) XP_024308866.1:p.Gln29134Leu
XM_024453099.1:c.69164A>T (TTN) XP_024308867.1:p.Gln23055Leu
XM_024453100.1:c.59018A>T (TTN) XP_024308868.1:p.Gln19673Leu