Canonical Allele Identifier: CA349618092

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618046C>A , CM000664.2:g.178618046C>A GRCh38
NC_000002.11:g.179482773C>A , CM000664.1:g.179482773C>A GRCh37
NC_000002.10:g.179191018C>A NCBI36
NG_011618.3:g.217757G>T , LRG_391:g.217757G>T
NG_051363.1:g.100220C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39601G>T (TTN) ENSP00000343764.6:p.Asp13201Tyr
ENST00000342175.11:c.20686G>T (TTN) ENSP00000340554.6:p.Asp6896Tyr
ENST00000359218.10:c.20485G>T (TTN) ENSP00000352154.5:p.Asp6829Tyr
ENST00000342175.10:c.20686G>T (TTN) ENSP00000340554.6:p.Asp6896Tyr
ENST00000342992.10:c.39601G>T (TTN) ENSP00000343764.6:p.Asp13201Tyr
ENST00000359218.9:c.20485G>T (TTN) ENSP00000352154.5:p.Asp6829Tyr
ENST00000460472.6:c.20110G>T (TTN) ENSP00000434586.1:p.Asp6704Tyr
ENST00000589042.5:c.47305G>T (TTN) MANE Select ENSP00000467141.1:p.Asp15769Tyr
ENST00000591111.5:c.42382G>T (TTN) ENSP00000465570.1:p.Asp14128Tyr
ENST00000615779.4:c.42382G>T (TTN) ENSP00000483597.1:p.Asp14128Tyr
NM_001256850.1:c.42382G>T (TTN) NP_001243779.1:p.Asp14128Tyr
NM_001267550.2:c.47305G>T (TTN) MANE Select NP_001254479.2:p.Asp15769Tyr
NM_003319.4:c.20110G>T (TTN) NP_003310.4:p.Asp6704Tyr
NM_133378.4:c.39601G>T (TTN) NP_596869.4:p.Asp13201Tyr
NM_133432.3:c.20485G>T (TTN) NP_597676.3:p.Asp6829Tyr
NM_133437.4:c.20686G>T (TTN) NP_597681.4:p.Asp6896Tyr
NR_038271.1:n.1605-1707C>A (TTN-AS1)
XM_011511729.1:c.46402G>T (TTN) XP_011510031.1:p.Asp15468Tyr
XM_011511730.1:c.20296G>T (TTN) XP_011510032.1:p.Asp6766Tyr
XM_011511731.1:c.20155G>T (TTN) XP_011510033.1:p.Asp6719Tyr
XM_017004819.1:c.46198G>T (TTN) XP_016860308.1:p.Asp15400Tyr
XM_017004820.1:c.41596G>T (TTN) XP_016860309.1:p.Asp13866Tyr
XM_017004821.1:c.41593G>T (TTN) XP_016860310.1:p.Asp13865Tyr
XM_017004822.1:c.38635G>T (TTN) XP_016860311.1:p.Asp12879Tyr
XM_017004823.1:c.20251G>T (TTN) XP_016860312.1:p.Asp6751Tyr
XM_024453094.1:c.41746G>T (TTN) XP_024308862.1:p.Asp13916Tyr
XM_024453095.1:c.41743G>T (TTN) XP_024308863.1:p.Asp13915Tyr
XM_024453096.1:c.41176G>T (TTN) XP_024308864.1:p.Asp13726Tyr
XM_024453097.1:c.38518G>T (TTN) XP_024308865.1:p.Asp12840Tyr
XM_024453098.1:c.38437G>T (TTN) XP_024308866.1:p.Asp12813Tyr
XM_024453099.1:c.20200G>T (TTN) XP_024308867.1:p.Asp6734Tyr
XM_024453100.1:c.10054G>T (TTN) XP_024308868.1:p.Asp3352Tyr