Canonical Allele Identifier: CA349467479

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546310A>C , CM000664.2:g.178546310A>C GRCh38
NC_000002.11:g.179411037A>C , CM000664.1:g.179411037A>C GRCh37
NC_000002.10:g.179119283A>C NCBI36
NG_011618.3:g.289493T>G , LRG_391:g.289493T>G
NG_051363.1:g.28484A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87317T>G (TTN) ENSP00000343764.6:p.Val29106Gly
ENST00000342175.11:c.68402T>G (TTN) ENSP00000340554.6:p.Val22801Gly
ENST00000359218.10:c.68201T>G (TTN) ENSP00000352154.5:p.Val22734Gly
ENST00000342175.10:c.68402T>G (TTN) ENSP00000340554.6:p.Val22801Gly
ENST00000342992.10:c.87317T>G (TTN) ENSP00000343764.6:p.Val29106Gly
ENST00000359218.9:c.68201T>G (TTN) ENSP00000352154.5:p.Val22734Gly
ENST00000460472.6:c.67826T>G (TTN) ENSP00000434586.1:p.Val22609Gly
ENST00000589042.5:c.95021T>G (TTN) MANE Select ENSP00000467141.1:p.Val31674Gly
ENST00000591111.5:c.90098T>G (TTN) ENSP00000465570.1:p.Val30033Gly
ENST00000615779.4:c.90098T>G (TTN) ENSP00000483597.1:p.Val30033Gly
NM_001256850.1:c.90098T>G (TTN) NP_001243779.1:p.Val30033Gly
NM_001267550.2:c.95021T>G (TTN) MANE Select NP_001254479.2:p.Val31674Gly
NM_003319.4:c.67826T>G (TTN) NP_003310.4:p.Val22609Gly
NM_133378.4:c.87317T>G (TTN) NP_596869.4:p.Val29106Gly
NM_133432.3:c.68201T>G (TTN) NP_597676.3:p.Val22734Gly
NM_133437.4:c.68402T>G (TTN) NP_597681.4:p.Val22801Gly
NR_038271.1:n.446+22674A>C (TTN-AS1)
NR_038272.1:n.2043+3949A>C (TTN-AS1)
XM_011511729.1:c.94118T>G (TTN) XP_011510031.1:p.Val31373Gly
XM_011511730.1:c.68012T>G (TTN) XP_011510032.1:p.Val22671Gly
XM_011511731.1:c.67871T>G (TTN) XP_011510033.1:p.Val22624Gly
XM_017004819.1:c.93914T>G (TTN) XP_016860308.1:p.Val31305Gly
XM_017004820.1:c.89312T>G (TTN) XP_016860309.1:p.Val29771Gly
XM_017004821.1:c.89309T>G (TTN) XP_016860310.1:p.Val29770Gly
XM_017004822.1:c.86351T>G (TTN) XP_016860311.1:p.Val28784Gly
XM_017004823.1:c.67967T>G (TTN) XP_016860312.1:p.Val22656Gly
XM_024453094.1:c.89462T>G (TTN) XP_024308862.1:p.Val29821Gly
XM_024453095.1:c.89459T>G (TTN) XP_024308863.1:p.Val29820Gly
XM_024453096.1:c.88892T>G (TTN) XP_024308864.1:p.Val29631Gly
XM_024453097.1:c.86234T>G (TTN) XP_024308865.1:p.Val28745Gly
XM_024453098.1:c.86153T>G (TTN) XP_024308866.1:p.Val28718Gly
XM_024453099.1:c.67916T>G (TTN) XP_024308867.1:p.Val22639Gly
XM_024453100.1:c.57770T>G (TTN) XP_024308868.1:p.Val19257Gly