Canonical Allele Identifier: CA349612201
Community Standard Title: NM_001267550.2(TTN):c.77157G>A (p.Trp25719Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568975C>T , CM000664.2:g.178568975C>T GRCh38
NC_000002.11:g.179433702C>T , CM000664.1:g.179433702C>T GRCh37
NC_000002.10:g.179141948C>T NCBI36
NG_011618.3:g.266828G>A , LRG_391:g.266828G>A
NG_051363.1:g.51149C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.77157G>A (TTN) MANE Select NP_001254479.2:p.Trp25719Ter
ENST00000589042.5:c.77157G>A (TTN) MANE Select ENSP00000467141.1:p.Trp25719Ter
NM_001256850.1:c.72234G>A (TTN) NP_001243779.1:p.Trp24078Ter
NM_003319.4:c.49962G>A (TTN) NP_003310.4:p.Trp16654Ter
NM_133378.4:c.69453G>A (TTN) NP_596869.4:p.Trp23151Ter
NM_133432.3:c.50337G>A (TTN) NP_597676.3:p.Trp16779Ter
NM_133437.4:c.50538G>A (TTN) NP_597681.4:p.Trp16846Ter
NR_038271.1:n.447-2325C>T (TTN-AS1)
NR_038272.1:n.2044-13597C>T (TTN-AS1)
ENST00000342175.10:c.50538G>A (TTN) ENSP00000340554.6:p.Trp16846Ter
ENST00000342175.11:c.50538G>A (TTN) ENSP00000340554.6:p.Trp16846Ter
ENST00000342992.10:c.69453G>A (TTN) ENSP00000343764.6:p.Trp23151Ter
ENST00000342992.11:c.69453G>A (TTN) ENSP00000343764.6:p.Trp23151Ter
ENST00000359218.10:c.50337G>A (TTN) ENSP00000352154.5:p.Trp16779Ter
ENST00000359218.9:c.50337G>A (TTN) ENSP00000352154.5:p.Trp16779Ter
ENST00000460472.6:c.49962G>A (TTN) ENSP00000434586.1:p.Trp16654Ter
ENST00000591111.5:c.72234G>A (TTN) ENSP00000465570.1:p.Trp24078Ter
ENST00000615779.4:c.72234G>A (TTN) ENSP00000483597.1:p.Trp24078Ter
XM_011511729.1:c.76254G>A (TTN) XP_011510031.1:p.Trp25418Ter
XM_011511730.1:c.50148G>A (TTN) XP_011510032.1:p.Trp16716Ter
XM_011511731.1:c.50007G>A (TTN) XP_011510033.1:p.Trp16669Ter
XM_017004819.1:c.76050G>A (TTN) XP_016860308.1:p.Trp25350Ter
XM_017004820.1:c.71448G>A (TTN) XP_016860309.1:p.Trp23816Ter
XM_017004821.1:c.71445G>A (TTN) XP_016860310.1:p.Trp23815Ter
XM_017004822.1:c.68487G>A (TTN) XP_016860311.1:p.Trp22829Ter
XM_017004823.1:c.50103G>A (TTN) XP_016860312.1:p.Trp16701Ter
XM_024453094.1:c.71598G>A (TTN) XP_024308862.1:p.Trp23866Ter
XM_024453095.1:c.71595G>A (TTN) XP_024308863.1:p.Trp23865Ter
XM_024453096.1:c.71028G>A (TTN) XP_024308864.1:p.Trp23676Ter
XM_024453097.1:c.68370G>A (TTN) XP_024308865.1:p.Trp22790Ter
XM_024453098.1:c.68289G>A (TTN) XP_024308866.1:p.Trp22763Ter
XM_024453099.1:c.50052G>A (TTN) XP_024308867.1:p.Trp16684Ter
XM_024453100.1:c.39906G>A (TTN) XP_024308868.1:p.Trp13302Ter