Canonical Allele Identifier: CA349424619

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178580227T>A , CM000664.2:g.178580227T>A GRCh38
NC_000002.11:g.179444954T>A , CM000664.1:g.179444954T>A GRCh37
NC_000002.10:g.179153200T>A NCBI36
NG_011618.3:g.255576A>T , LRG_391:g.255576A>T
NG_051363.1:g.62401T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59356A>T (TTN) ENSP00000343764.6:p.Thr19786Ser
ENST00000342175.11:c.40441A>T (TTN) ENSP00000340554.6:p.Thr13481Ser
ENST00000359218.10:c.40240A>T (TTN) ENSP00000352154.5:p.Thr13414Ser
ENST00000342175.10:c.40441A>T (TTN) ENSP00000340554.6:p.Thr13481Ser
ENST00000342992.10:c.59356A>T (TTN) ENSP00000343764.6:p.Thr19786Ser
ENST00000359218.9:c.40240A>T (TTN) ENSP00000352154.5:p.Thr13414Ser
ENST00000460472.6:c.39865A>T (TTN) ENSP00000434586.1:p.Thr13289Ser
ENST00000589042.5:c.67060A>T (TTN) MANE Select ENSP00000467141.1:p.Thr22354Ser
ENST00000591111.5:c.62137A>T (TTN) ENSP00000465570.1:p.Thr20713Ser
ENST00000615779.4:c.62137A>T (TTN) ENSP00000483597.1:p.Thr20713Ser
NM_001256850.1:c.62137A>T (TTN) NP_001243779.1:p.Thr20713Ser
NM_001267550.2:c.67060A>T (TTN) MANE Select NP_001254479.2:p.Thr22354Ser
NM_003319.4:c.39865A>T (TTN) NP_003310.4:p.Thr13289Ser
NM_133378.4:c.59356A>T (TTN) NP_596869.4:p.Thr19786Ser
NM_133432.3:c.40240A>T (TTN) NP_597676.3:p.Thr13414Ser
NM_133437.4:c.40441A>T (TTN) NP_597681.4:p.Thr13481Ser
NR_038271.1:n.596+8778T>A (TTN-AS1)
NR_038272.1:n.2044-2345T>A (TTN-AS1)
XM_011511729.1:c.66157A>T (TTN) XP_011510031.1:p.Thr22053Ser
XM_011511730.1:c.40051A>T (TTN) XP_011510032.1:p.Thr13351Ser
XM_011511731.1:c.39910A>T (TTN) XP_011510033.1:p.Thr13304Ser
XM_017004819.1:c.65953A>T (TTN) XP_016860308.1:p.Thr21985Ser
XM_017004820.1:c.61351A>T (TTN) XP_016860309.1:p.Thr20451Ser
XM_017004821.1:c.61348A>T (TTN) XP_016860310.1:p.Thr20450Ser
XM_017004822.1:c.58390A>T (TTN) XP_016860311.1:p.Thr19464Ser
XM_017004823.1:c.40006A>T (TTN) XP_016860312.1:p.Thr13336Ser
XM_024453094.1:c.61501A>T (TTN) XP_024308862.1:p.Thr20501Ser
XM_024453095.1:c.61498A>T (TTN) XP_024308863.1:p.Thr20500Ser
XM_024453096.1:c.60931A>T (TTN) XP_024308864.1:p.Thr20311Ser
XM_024453097.1:c.58273A>T (TTN) XP_024308865.1:p.Thr19425Ser
XM_024453098.1:c.58192A>T (TTN) XP_024308866.1:p.Thr19398Ser
XM_024453099.1:c.39955A>T (TTN) XP_024308867.1:p.Thr13319Ser
XM_024453100.1:c.29809A>T (TTN) XP_024308868.1:p.Thr9937Ser