Canonical Allele Identifier: CA284060

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548725G>A , CM000664.2:g.178548725G>A GRCh38
NC_000002.11:g.179413452G>A , CM000664.1:g.179413452G>A GRCh37
NC_000002.10:g.179121698G>A NCBI36
NG_011618.3:g.287078C>T , LRG_391:g.287078C>T
NG_051363.1:g.30899G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.85197C>T (TTN) ENSP00000343764.6:p.Ser28399=
ENST00000342175.11:c.66282C>T (TTN) ENSP00000340554.6:p.Ser22094=
ENST00000359218.10:c.66081C>T (TTN) ENSP00000352154.5:p.Ser22027=
ENST00000342175.10:c.66282C>T (TTN) ENSP00000340554.6:p.Ser22094=
ENST00000342992.10:c.85197C>T (TTN) ENSP00000343764.6:p.Ser28399=
ENST00000359218.9:c.66081C>T (TTN) ENSP00000352154.5:p.Ser22027=
ENST00000460472.6:c.65706C>T (TTN) ENSP00000434586.1:p.Ser21902=
ENST00000589042.5:c.92901C>T (TTN) MANE Select ENSP00000467141.1:p.Ser30967=
ENST00000591111.5:c.87978C>T (TTN) ENSP00000465570.1:p.Ser29326=
ENST00000615779.4:c.87978C>T (TTN) ENSP00000483597.1:p.Ser29326=
NM_001256850.1:c.87978C>T (TTN) NP_001243779.1:p.Ser29326=
NM_001267550.2:c.92901C>T (TTN) MANE Select NP_001254479.2:p.Ser30967=
NM_003319.4:c.65706C>T (TTN) NP_003310.4:p.Ser21902=
NM_133378.4:c.85197C>T (TTN) NP_596869.4:p.Ser28399=
NM_133432.3:c.66081C>T (TTN) NP_597676.3:p.Ser22027=
NM_133437.4:c.66282C>T (TTN) NP_597681.4:p.Ser22094=
NR_038271.1:n.447-22575G>A (TTN-AS1)
NR_038272.1:n.2043+6364G>A (TTN-AS1)
XM_011511729.1:c.91998C>T (TTN) XP_011510031.1:p.Ser30666=
XM_011511730.1:c.65892C>T (TTN) XP_011510032.1:p.Ser21964=
XM_011511731.1:c.65751C>T (TTN) XP_011510033.1:p.Ser21917=
XM_017004819.1:c.91794C>T (TTN) XP_016860308.1:p.Ser30598=
XM_017004820.1:c.87192C>T (TTN) XP_016860309.1:p.Ser29064=
XM_017004821.1:c.87189C>T (TTN) XP_016860310.1:p.Ser29063=
XM_017004822.1:c.84231C>T (TTN) XP_016860311.1:p.Ser28077=
XM_017004823.1:c.65847C>T (TTN) XP_016860312.1:p.Ser21949=
XM_024453094.1:c.87342C>T (TTN) XP_024308862.1:p.Ser29114=
XM_024453095.1:c.87339C>T (TTN) XP_024308863.1:p.Ser29113=
XM_024453096.1:c.86772C>T (TTN) XP_024308864.1:p.Ser28924=
XM_024453097.1:c.84114C>T (TTN) XP_024308865.1:p.Ser28038=
XM_024453098.1:c.84033C>T (TTN) XP_024308866.1:p.Ser28011=
XM_024453099.1:c.65796C>T (TTN) XP_024308867.1:p.Ser21932=
XM_024453100.1:c.55650C>T (TTN) XP_024308868.1:p.Ser18550=