Canonical Allele Identifier: CA430256275

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178572689G>A , CM000664.2:g.178572689G>A GRCh38
NC_000002.11:g.179437416G>A , CM000664.1:g.179437416G>A GRCh37
NC_000002.10:g.179145662G>A NCBI36
NG_011618.3:g.263114C>T , LRG_391:g.263114C>T
NG_051363.1:g.54863G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.73443C>T (TTN) MANE Select NP_001254479.2:p.Tyr24481=
ENST00000589042.5:c.73443C>T (TTN) MANE Select ENSP00000467141.1:p.Tyr24481=
NM_001256850.1:c.68520C>T (TTN) NP_001243779.1:p.Tyr22840=
NM_003319.4:c.46248C>T (TTN) NP_003310.4:p.Tyr15416=
NM_133378.4:c.65739C>T (TTN) NP_596869.4:p.Tyr21913=
NM_133432.3:c.46623C>T (TTN) NP_597676.3:p.Tyr15541=
NM_133437.4:c.46824C>T (TTN) NP_597681.4:p.Tyr15608=
NR_038271.1:n.596+1240G>A (TTN-AS1)
NR_038272.1:n.2044-9883G>A (TTN-AS1)
ENST00000342175.10:c.46824C>T (TTN) ENSP00000340554.6:p.Tyr15608=
ENST00000342175.11:c.46824C>T (TTN) ENSP00000340554.6:p.Tyr15608=
ENST00000342992.10:c.65739C>T (TTN) ENSP00000343764.6:p.Tyr21913=
ENST00000342992.11:c.65739C>T (TTN) ENSP00000343764.6:p.Tyr21913=
ENST00000359218.10:c.46623C>T (TTN) ENSP00000352154.5:p.Tyr15541=
ENST00000359218.9:c.46623C>T (TTN) ENSP00000352154.5:p.Tyr15541=
ENST00000460472.6:c.46248C>T (TTN) ENSP00000434586.1:p.Tyr15416=
ENST00000591111.5:c.68520C>T (TTN) ENSP00000465570.1:p.Tyr22840=
ENST00000615779.4:c.68520C>T (TTN) ENSP00000483597.1:p.Tyr22840=
XM_011511729.1:c.72540C>T (TTN) XP_011510031.1:p.Tyr24180=
XM_011511730.1:c.46434C>T (TTN) XP_011510032.1:p.Tyr15478=
XM_011511731.1:c.46293C>T (TTN) XP_011510033.1:p.Tyr15431=
XM_017004819.1:c.72336C>T (TTN) XP_016860308.1:p.Tyr24112=
XM_017004820.1:c.67734C>T (TTN) XP_016860309.1:p.Tyr22578=
XM_017004821.1:c.67731C>T (TTN) XP_016860310.1:p.Tyr22577=
XM_017004822.1:c.64773C>T (TTN) XP_016860311.1:p.Tyr21591=
XM_017004823.1:c.46389C>T (TTN) XP_016860312.1:p.Tyr15463=
XM_024453094.1:c.67884C>T (TTN) XP_024308862.1:p.Tyr22628=
XM_024453095.1:c.67881C>T (TTN) XP_024308863.1:p.Tyr22627=
XM_024453096.1:c.67314C>T (TTN) XP_024308864.1:p.Tyr22438=
XM_024453097.1:c.64656C>T (TTN) XP_024308865.1:p.Tyr21552=
XM_024453098.1:c.64575C>T (TTN) XP_024308866.1:p.Tyr21525=
XM_024453099.1:c.46338C>T (TTN) XP_024308867.1:p.Tyr15446=
XM_024453100.1:c.36192C>T (TTN) XP_024308868.1:p.Tyr12064=