Canonical Allele Identifier: CA349495774

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549797T>G , CM000664.2:g.178549797T>G GRCh38
NC_000002.11:g.179414524T>G , CM000664.1:g.179414524T>G GRCh37
NC_000002.10:g.179122770T>G NCBI36
NG_011618.3:g.286006A>C , LRG_391:g.286006A>C
NG_051363.1:g.31971T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84221A>C (TTN) ENSP00000343764.6:p.Asp28074Ala
ENST00000342175.11:c.65306A>C (TTN) ENSP00000340554.6:p.Asp21769Ala
ENST00000359218.10:c.65105A>C (TTN) ENSP00000352154.5:p.Asp21702Ala
ENST00000342175.10:c.65306A>C (TTN) ENSP00000340554.6:p.Asp21769Ala
ENST00000342992.10:c.84221A>C (TTN) ENSP00000343764.6:p.Asp28074Ala
ENST00000359218.9:c.65105A>C (TTN) ENSP00000352154.5:p.Asp21702Ala
ENST00000460472.6:c.64730A>C (TTN) ENSP00000434586.1:p.Asp21577Ala
ENST00000589042.5:c.91925A>C (TTN) MANE Select ENSP00000467141.1:p.Asp30642Ala
ENST00000591111.5:c.87002A>C (TTN) ENSP00000465570.1:p.Asp29001Ala
ENST00000615779.4:c.87002A>C (TTN) ENSP00000483597.1:p.Asp29001Ala
NM_001256850.1:c.87002A>C (TTN) NP_001243779.1:p.Asp29001Ala
NM_001267550.2:c.91925A>C (TTN) MANE Select NP_001254479.2:p.Asp30642Ala
NM_003319.4:c.64730A>C (TTN) NP_003310.4:p.Asp21577Ala
NM_133378.4:c.84221A>C (TTN) NP_596869.4:p.Asp28074Ala
NM_133432.3:c.65105A>C (TTN) NP_597676.3:p.Asp21702Ala
NM_133437.4:c.65306A>C (TTN) NP_597681.4:p.Asp21769Ala
NR_038271.1:n.447-21503T>G (TTN-AS1)
NR_038272.1:n.2043+7436T>G (TTN-AS1)
XM_011511729.1:c.91022A>C (TTN) XP_011510031.1:p.Asp30341Ala
XM_011511730.1:c.64916A>C (TTN) XP_011510032.1:p.Asp21639Ala
XM_011511731.1:c.64775A>C (TTN) XP_011510033.1:p.Asp21592Ala
XM_017004819.1:c.90818A>C (TTN) XP_016860308.1:p.Asp30273Ala
XM_017004820.1:c.86216A>C (TTN) XP_016860309.1:p.Asp28739Ala
XM_017004821.1:c.86213A>C (TTN) XP_016860310.1:p.Asp28738Ala
XM_017004822.1:c.83255A>C (TTN) XP_016860311.1:p.Asp27752Ala
XM_017004823.1:c.64871A>C (TTN) XP_016860312.1:p.Asp21624Ala
XM_024453094.1:c.86366A>C (TTN) XP_024308862.1:p.Asp28789Ala
XM_024453095.1:c.86363A>C (TTN) XP_024308863.1:p.Asp28788Ala
XM_024453096.1:c.85796A>C (TTN) XP_024308864.1:p.Asp28599Ala
XM_024453097.1:c.83138A>C (TTN) XP_024308865.1:p.Asp27713Ala
XM_024453098.1:c.83057A>C (TTN) XP_024308866.1:p.Asp27686Ala
XM_024453099.1:c.64820A>C (TTN) XP_024308867.1:p.Asp21607Ala
XM_024453100.1:c.54674A>C (TTN) XP_024308868.1:p.Asp18225Ala