Canonical Allele Identifier: CA349495777

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549798C>A , CM000664.2:g.178549798C>A GRCh38
NC_000002.11:g.179414525C>A , CM000664.1:g.179414525C>A GRCh37
NC_000002.10:g.179122771C>A NCBI36
NG_011618.3:g.286005G>T , LRG_391:g.286005G>T
NG_051363.1:g.31972C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84220G>T (TTN) ENSP00000343764.6:p.Asp28074Tyr
ENST00000342175.11:c.65305G>T (TTN) ENSP00000340554.6:p.Asp21769Tyr
ENST00000359218.10:c.65104G>T (TTN) ENSP00000352154.5:p.Asp21702Tyr
ENST00000342175.10:c.65305G>T (TTN) ENSP00000340554.6:p.Asp21769Tyr
ENST00000342992.10:c.84220G>T (TTN) ENSP00000343764.6:p.Asp28074Tyr
ENST00000359218.9:c.65104G>T (TTN) ENSP00000352154.5:p.Asp21702Tyr
ENST00000460472.6:c.64729G>T (TTN) ENSP00000434586.1:p.Asp21577Tyr
ENST00000589042.5:c.91924G>T (TTN) MANE Select ENSP00000467141.1:p.Asp30642Tyr
ENST00000591111.5:c.87001G>T (TTN) ENSP00000465570.1:p.Asp29001Tyr
ENST00000615779.4:c.87001G>T (TTN) ENSP00000483597.1:p.Asp29001Tyr
NM_001256850.1:c.87001G>T (TTN) NP_001243779.1:p.Asp29001Tyr
NM_001267550.2:c.91924G>T (TTN) MANE Select NP_001254479.2:p.Asp30642Tyr
NM_003319.4:c.64729G>T (TTN) NP_003310.4:p.Asp21577Tyr
NM_133378.4:c.84220G>T (TTN) NP_596869.4:p.Asp28074Tyr
NM_133432.3:c.65104G>T (TTN) NP_597676.3:p.Asp21702Tyr
NM_133437.4:c.65305G>T (TTN) NP_597681.4:p.Asp21769Tyr
NR_038271.1:n.447-21502C>A (TTN-AS1)
NR_038272.1:n.2043+7437C>A (TTN-AS1)
XM_011511729.1:c.91021G>T (TTN) XP_011510031.1:p.Asp30341Tyr
XM_011511730.1:c.64915G>T (TTN) XP_011510032.1:p.Asp21639Tyr
XM_011511731.1:c.64774G>T (TTN) XP_011510033.1:p.Asp21592Tyr
XM_017004819.1:c.90817G>T (TTN) XP_016860308.1:p.Asp30273Tyr
XM_017004820.1:c.86215G>T (TTN) XP_016860309.1:p.Asp28739Tyr
XM_017004821.1:c.86212G>T (TTN) XP_016860310.1:p.Asp28738Tyr
XM_017004822.1:c.83254G>T (TTN) XP_016860311.1:p.Asp27752Tyr
XM_017004823.1:c.64870G>T (TTN) XP_016860312.1:p.Asp21624Tyr
XM_024453094.1:c.86365G>T (TTN) XP_024308862.1:p.Asp28789Tyr
XM_024453095.1:c.86362G>T (TTN) XP_024308863.1:p.Asp28788Tyr
XM_024453096.1:c.85795G>T (TTN) XP_024308864.1:p.Asp28599Tyr
XM_024453097.1:c.83137G>T (TTN) XP_024308865.1:p.Asp27713Tyr
XM_024453098.1:c.83056G>T (TTN) XP_024308866.1:p.Asp27686Tyr
XM_024453099.1:c.64819G>T (TTN) XP_024308867.1:p.Asp21607Tyr
XM_024453100.1:c.54673G>T (TTN) XP_024308868.1:p.Asp18225Tyr