Canonical Allele Identifier: CA349504290
Community Standard Title: NM_001267550.2(TTN):c.58581G>A (p.Trp19527Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593719C>T , CM000664.2:g.178593719C>T GRCh38
NC_000002.11:g.179458446C>T , CM000664.1:g.179458446C>T GRCh37
NC_000002.10:g.179166692C>T NCBI36
NG_011618.3:g.242084G>A , LRG_391:g.242084G>A
NG_051363.1:g.75893C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.58581G>A (TTN) MANE Select NP_001254479.2:p.Trp19527Ter
ENST00000589042.5:c.58581G>A (TTN) MANE Select ENSP00000467141.1:p.Trp19527Ter
NM_001256850.1:c.53658G>A (TTN) NP_001243779.1:p.Trp17886Ter
NM_003319.4:c.31386G>A (TTN) NP_003310.4:p.Trp10462Ter
NM_133378.4:c.50877G>A (TTN) NP_596869.4:p.Trp16959Ter
NM_133432.3:c.31761G>A (TTN) NP_597676.3:p.Trp10587Ter
NM_133437.4:c.31962G>A (TTN) NP_597681.4:p.Trp10654Ter
NR_038271.1:n.597-3877C>T (TTN-AS1)
NR_038272.1:n.3364+2405C>T (TTN-AS1)
ENST00000342175.10:c.31962G>A (TTN) ENSP00000340554.6:p.Trp10654Ter
ENST00000342175.11:c.31962G>A (TTN) ENSP00000340554.6:p.Trp10654Ter
ENST00000342992.10:c.50877G>A (TTN) ENSP00000343764.6:p.Trp16959Ter
ENST00000342992.11:c.50877G>A (TTN) ENSP00000343764.6:p.Trp16959Ter
ENST00000359218.10:c.31761G>A (TTN) ENSP00000352154.5:p.Trp10587Ter
ENST00000359218.9:c.31761G>A (TTN) ENSP00000352154.5:p.Trp10587Ter
ENST00000460472.6:c.31386G>A (TTN) ENSP00000434586.1:p.Trp10462Ter
ENST00000591111.5:c.53658G>A (TTN) ENSP00000465570.1:p.Trp17886Ter
ENST00000615779.4:c.53658G>A (TTN) ENSP00000483597.1:p.Trp17886Ter
XM_011511729.1:c.57678G>A (TTN) XP_011510031.1:p.Trp19226Ter
XM_011511730.1:c.31572G>A (TTN) XP_011510032.1:p.Trp10524Ter
XM_011511731.1:c.31431G>A (TTN) XP_011510033.1:p.Trp10477Ter
XM_017004819.1:c.57474G>A (TTN) XP_016860308.1:p.Trp19158Ter
XM_017004820.1:c.52872G>A (TTN) XP_016860309.1:p.Trp17624Ter
XM_017004821.1:c.52869G>A (TTN) XP_016860310.1:p.Trp17623Ter
XM_017004822.1:c.49911G>A (TTN) XP_016860311.1:p.Trp16637Ter
XM_017004823.1:c.31527G>A (TTN) XP_016860312.1:p.Trp10509Ter
XM_024453094.1:c.53022G>A (TTN) XP_024308862.1:p.Trp17674Ter
XM_024453095.1:c.53019G>A (TTN) XP_024308863.1:p.Trp17673Ter
XM_024453096.1:c.52452G>A (TTN) XP_024308864.1:p.Trp17484Ter
XM_024453097.1:c.49794G>A (TTN) XP_024308865.1:p.Trp16598Ter
XM_024453098.1:c.49713G>A (TTN) XP_024308866.1:p.Trp16571Ter
XM_024453099.1:c.31476G>A (TTN) XP_024308867.1:p.Trp10492Ter
XM_024453100.1:c.21330G>A (TTN) XP_024308868.1:p.Trp7110Ter