Canonical Allele Identifier: CA349425414

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536173G>A , CM000664.2:g.178536173G>A GRCh38
NC_000002.11:g.179400900G>A , CM000664.1:g.179400900G>A GRCh37
NC_000002.10:g.179109146G>A NCBI36
NG_011618.3:g.299630C>T , LRG_391:g.299630C>T
NG_051363.1:g.18347G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92870C>T (TTN) ENSP00000343764.6:p.Pro30957Leu
ENST00000342175.11:c.73955C>T (TTN) ENSP00000340554.6:p.Pro24652Leu
ENST00000359218.10:c.73754C>T (TTN) ENSP00000352154.5:p.Pro24585Leu
ENST00000342175.10:c.73955C>T (TTN) ENSP00000340554.6:p.Pro24652Leu
ENST00000342992.10:c.92870C>T (TTN) ENSP00000343764.6:p.Pro30957Leu
ENST00000359218.9:c.73754C>T (TTN) ENSP00000352154.5:p.Pro24585Leu
ENST00000460472.6:c.73379C>T (TTN) ENSP00000434586.1:p.Pro24460Leu
ENST00000589042.5:c.100574C>T (TTN) MANE Select ENSP00000467141.1:p.Pro33525Leu
ENST00000591111.5:c.95651C>T (TTN) ENSP00000465570.1:p.Pro31884Leu
ENST00000615779.4:c.95651C>T (TTN) ENSP00000483597.1:p.Pro31884Leu
NM_001256850.1:c.95651C>T (TTN) NP_001243779.1:p.Pro31884Leu
NM_001267550.2:c.100574C>T (TTN) MANE Select NP_001254479.2:p.Pro33525Leu
NM_003319.4:c.73379C>T (TTN) NP_003310.4:p.Pro24460Leu
NM_133378.4:c.92870C>T (TTN) NP_596869.4:p.Pro30957Leu
NM_133432.3:c.73754C>T (TTN) NP_597676.3:p.Pro24585Leu
NM_133437.4:c.73955C>T (TTN) NP_597681.4:p.Pro24652Leu
NR_038271.1:n.446+12537G>A (TTN-AS1)
NR_038272.1:n.316+345G>A (TTN-AS1)
XM_011511729.1:c.99671C>T (TTN) XP_011510031.1:p.Pro33224Leu
XM_011511730.1:c.73565C>T (TTN) XP_011510032.1:p.Pro24522Leu
XM_011511731.1:c.73424C>T (TTN) XP_011510033.1:p.Pro24475Leu
XM_017004819.1:c.99467C>T (TTN) XP_016860308.1:p.Pro33156Leu
XM_017004820.1:c.94865C>T (TTN) XP_016860309.1:p.Pro31622Leu
XM_017004821.1:c.94862C>T (TTN) XP_016860310.1:p.Pro31621Leu
XM_017004822.1:c.91904C>T (TTN) XP_016860311.1:p.Pro30635Leu
XM_017004823.1:c.73520C>T (TTN) XP_016860312.1:p.Pro24507Leu
XM_024453094.1:c.95015C>T (TTN) XP_024308862.1:p.Pro31672Leu
XM_024453095.1:c.95012C>T (TTN) XP_024308863.1:p.Pro31671Leu
XM_024453096.1:c.94445C>T (TTN) XP_024308864.1:p.Pro31482Leu
XM_024453097.1:c.91787C>T (TTN) XP_024308865.1:p.Pro30596Leu
XM_024453098.1:c.91706C>T (TTN) XP_024308866.1:p.Pro30569Leu
XM_024453099.1:c.73469C>T (TTN) XP_024308867.1:p.Pro24490Leu
XM_024453100.1:c.63323C>T (TTN) XP_024308868.1:p.Pro21108Leu