Canonical Allele Identifier: CA349647825

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64549A>T (TTN) ENSP00000343764.6:p.Thr21517Ser
ENST00000342175.11:c.45634A>T (TTN) ENSP00000340554.6:p.Thr15212Ser
ENST00000359218.10:c.45433A>T (TTN) ENSP00000352154.5:p.Thr15145Ser
ENST00000342175.10:c.45634A>T (TTN) ENSP00000340554.6:p.Thr15212Ser
ENST00000342992.10:c.64549A>T (TTN) ENSP00000343764.6:p.Thr21517Ser
ENST00000359218.9:c.45433A>T (TTN) ENSP00000352154.5:p.Thr15145Ser
ENST00000460472.6:c.45058A>T (TTN) ENSP00000434586.1:p.Thr15020Ser
ENST00000589042.5:c.72253A>T (TTN) MANE Select ENSP00000467141.1:p.Thr24085Ser
ENST00000591111.5:c.67330A>T (TTN) ENSP00000465570.1:p.Thr22444Ser
ENST00000615779.4:c.67330A>T (TTN) ENSP00000483597.1:p.Thr22444Ser
NM_001256850.1:c.67330A>T (TTN) NP_001243779.1:p.Thr22444Ser
NM_001267550.2:c.72253A>T (TTN) MANE Select NP_001254479.2:p.Thr24085Ser
NM_003319.4:c.45058A>T (TTN) NP_003310.4:p.Thr15020Ser
NM_133378.4:c.64549A>T (TTN) NP_596869.4:p.Thr21517Ser
NM_133432.3:c.45433A>T (TTN) NP_597676.3:p.Thr15145Ser
NM_133437.4:c.45634A>T (TTN) NP_597681.4:p.Thr15212Ser
NR_038271.1:n.596+2430T>A (TTN-AS1)
NR_038272.1:n.2044-8693T>A (TTN-AS1)
XM_011511729.1:c.71350A>T (TTN) XP_011510031.1:p.Thr23784Ser
XM_011511730.1:c.45244A>T (TTN) XP_011510032.1:p.Thr15082Ser
XM_011511731.1:c.45103A>T (TTN) XP_011510033.1:p.Thr15035Ser
XM_017004819.1:c.71146A>T (TTN) XP_016860308.1:p.Thr23716Ser
XM_017004820.1:c.66544A>T (TTN) XP_016860309.1:p.Thr22182Ser
XM_017004821.1:c.66541A>T (TTN) XP_016860310.1:p.Thr22181Ser
XM_017004822.1:c.63583A>T (TTN) XP_016860311.1:p.Thr21195Ser
XM_017004823.1:c.45199A>T (TTN) XP_016860312.1:p.Thr15067Ser
XM_024453094.1:c.66694A>T (TTN) XP_024308862.1:p.Thr22232Ser
XM_024453095.1:c.66691A>T (TTN) XP_024308863.1:p.Thr22231Ser
XM_024453096.1:c.66124A>T (TTN) XP_024308864.1:p.Thr22042Ser
XM_024453097.1:c.63466A>T (TTN) XP_024308865.1:p.Thr21156Ser
XM_024453098.1:c.63385A>T (TTN) XP_024308866.1:p.Thr21129Ser
XM_024453099.1:c.45148A>T (TTN) XP_024308867.1:p.Thr15050Ser
XM_024453100.1:c.35002A>T (TTN) XP_024308868.1:p.Thr11668Ser