Canonical Allele Identifier: CA349541144

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601538T>G , CM000664.2:g.178601538T>G GRCh38
NC_000002.11:g.179466265T>G , CM000664.1:g.179466265T>G GRCh37
NC_000002.10:g.179174510T>G NCBI36
NG_011618.3:g.234265A>C , LRG_391:g.234265A>C
NG_051363.1:g.83712T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47755A>C (TTN) ENSP00000343764.6:p.Lys15919Gln
ENST00000342175.11:c.28840A>C (TTN) ENSP00000340554.6:p.Lys9614Gln
ENST00000359218.10:c.28639A>C (TTN) ENSP00000352154.5:p.Lys9547Gln
ENST00000342175.10:c.28840A>C (TTN) ENSP00000340554.6:p.Lys9614Gln
ENST00000342992.10:c.47755A>C (TTN) ENSP00000343764.6:p.Lys15919Gln
ENST00000359218.9:c.28639A>C (TTN) ENSP00000352154.5:p.Lys9547Gln
ENST00000460472.6:c.28264A>C (TTN) ENSP00000434586.1:p.Lys9422Gln
ENST00000589042.5:c.55459A>C (TTN) MANE Select ENSP00000467141.1:p.Lys18487Gln
ENST00000591111.5:c.50536A>C (TTN) ENSP00000465570.1:p.Lys16846Gln
ENST00000615779.4:c.50536A>C (TTN) ENSP00000483597.1:p.Lys16846Gln
NM_001256850.1:c.50536A>C (TTN) NP_001243779.1:p.Lys16846Gln
NM_001267550.2:c.55459A>C (TTN) MANE Select NP_001254479.2:p.Lys18487Gln
NM_003319.4:c.28264A>C (TTN) NP_003310.4:p.Lys9422Gln
NM_133378.4:c.47755A>C (TTN) NP_596869.4:p.Lys15919Gln
NM_133432.3:c.28639A>C (TTN) NP_597676.3:p.Lys9547Gln
NM_133437.4:c.28840A>C (TTN) NP_597681.4:p.Lys9614Gln
NR_038271.1:n.682+3857T>G (TTN-AS1)
NR_038272.1:n.3917+871T>G (TTN-AS1)
XM_011511729.1:c.54556A>C (TTN) XP_011510031.1:p.Lys18186Gln
XM_011511730.1:c.28450A>C (TTN) XP_011510032.1:p.Lys9484Gln
XM_011511731.1:c.28309A>C (TTN) XP_011510033.1:p.Lys9437Gln
XM_017004819.1:c.54352A>C (TTN) XP_016860308.1:p.Lys18118Gln
XM_017004820.1:c.49750A>C (TTN) XP_016860309.1:p.Lys16584Gln
XM_017004821.1:c.49747A>C (TTN) XP_016860310.1:p.Lys16583Gln
XM_017004822.1:c.46789A>C (TTN) XP_016860311.1:p.Lys15597Gln
XM_017004823.1:c.28405A>C (TTN) XP_016860312.1:p.Lys9469Gln
XM_024453094.1:c.49900A>C (TTN) XP_024308862.1:p.Lys16634Gln
XM_024453095.1:c.49897A>C (TTN) XP_024308863.1:p.Lys16633Gln
XM_024453096.1:c.49330A>C (TTN) XP_024308864.1:p.Lys16444Gln
XM_024453097.1:c.46672A>C (TTN) XP_024308865.1:p.Lys15558Gln
XM_024453098.1:c.46591A>C (TTN) XP_024308866.1:p.Lys15531Gln
XM_024453099.1:c.28354A>C (TTN) XP_024308867.1:p.Lys9452Gln
XM_024453100.1:c.18208A>C (TTN) XP_024308868.1:p.Lys6070Gln