Canonical Allele Identifier: CA349647827

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573879T>C , CM000664.2:g.178573879T>C GRCh38
NC_000002.11:g.179438606T>C , CM000664.1:g.179438606T>C GRCh37
NC_000002.10:g.179146852T>C NCBI36
NG_011618.3:g.261924A>G , LRG_391:g.261924A>G
NG_051363.1:g.56053T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64549A>G (TTN) ENSP00000343764.6:p.Thr21517Ala
ENST00000342175.11:c.45634A>G (TTN) ENSP00000340554.6:p.Thr15212Ala
ENST00000359218.10:c.45433A>G (TTN) ENSP00000352154.5:p.Thr15145Ala
ENST00000342175.10:c.45634A>G (TTN) ENSP00000340554.6:p.Thr15212Ala
ENST00000342992.10:c.64549A>G (TTN) ENSP00000343764.6:p.Thr21517Ala
ENST00000359218.9:c.45433A>G (TTN) ENSP00000352154.5:p.Thr15145Ala
ENST00000460472.6:c.45058A>G (TTN) ENSP00000434586.1:p.Thr15020Ala
ENST00000589042.5:c.72253A>G (TTN) MANE Select ENSP00000467141.1:p.Thr24085Ala
ENST00000591111.5:c.67330A>G (TTN) ENSP00000465570.1:p.Thr22444Ala
ENST00000615779.4:c.67330A>G (TTN) ENSP00000483597.1:p.Thr22444Ala
NM_001256850.1:c.67330A>G (TTN) NP_001243779.1:p.Thr22444Ala
NM_001267550.2:c.72253A>G (TTN) MANE Select NP_001254479.2:p.Thr24085Ala
NM_003319.4:c.45058A>G (TTN) NP_003310.4:p.Thr15020Ala
NM_133378.4:c.64549A>G (TTN) NP_596869.4:p.Thr21517Ala
NM_133432.3:c.45433A>G (TTN) NP_597676.3:p.Thr15145Ala
NM_133437.4:c.45634A>G (TTN) NP_597681.4:p.Thr15212Ala
NR_038271.1:n.596+2430T>C (TTN-AS1)
NR_038272.1:n.2044-8693T>C (TTN-AS1)
XM_011511729.1:c.71350A>G (TTN) XP_011510031.1:p.Thr23784Ala
XM_011511730.1:c.45244A>G (TTN) XP_011510032.1:p.Thr15082Ala
XM_011511731.1:c.45103A>G (TTN) XP_011510033.1:p.Thr15035Ala
XM_017004819.1:c.71146A>G (TTN) XP_016860308.1:p.Thr23716Ala
XM_017004820.1:c.66544A>G (TTN) XP_016860309.1:p.Thr22182Ala
XM_017004821.1:c.66541A>G (TTN) XP_016860310.1:p.Thr22181Ala
XM_017004822.1:c.63583A>G (TTN) XP_016860311.1:p.Thr21195Ala
XM_017004823.1:c.45199A>G (TTN) XP_016860312.1:p.Thr15067Ala
XM_024453094.1:c.66694A>G (TTN) XP_024308862.1:p.Thr22232Ala
XM_024453095.1:c.66691A>G (TTN) XP_024308863.1:p.Thr22231Ala
XM_024453096.1:c.66124A>G (TTN) XP_024308864.1:p.Thr22042Ala
XM_024453097.1:c.63466A>G (TTN) XP_024308865.1:p.Thr21156Ala
XM_024453098.1:c.63385A>G (TTN) XP_024308866.1:p.Thr21129Ala
XM_024453099.1:c.45148A>G (TTN) XP_024308867.1:p.Thr15050Ala
XM_024453100.1:c.35002A>G (TTN) XP_024308868.1:p.Thr11668Ala