Canonical Allele Identifier: CA349622632
Community Standard Title: NM_001267550.2(TTN):c.46723C>T (p.Gln15575Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618827G>A , CM000664.2:g.178618827G>A GRCh38
NC_000002.11:g.179483554G>A , CM000664.1:g.179483554G>A GRCh37
NC_000002.10:g.179191799G>A NCBI36
NG_011618.3:g.216976C>T , LRG_391:g.216976C>T
NG_051363.1:g.101001G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46723C>T (TTN) MANE Select NP_001254479.2:p.Gln15575Ter
ENST00000589042.5:c.46723C>T (TTN) MANE Select ENSP00000467141.1:p.Gln15575Ter
NM_001256850.1:c.41800C>T (TTN) NP_001243779.1:p.Gln13934Ter
NM_003319.4:c.19528C>T (TTN) NP_003310.4:p.Gln6510Ter
NM_133378.4:c.39019C>T (TTN) NP_596869.4:p.Gln13007Ter
NM_133432.3:c.19903C>T (TTN) NP_597676.3:p.Gln6635Ter
NM_133437.4:c.20104C>T (TTN) NP_597681.4:p.Gln6702Ter
NR_038271.1:n.1605-926G>A (TTN-AS1)
ENST00000342175.10:c.20104C>T (TTN) ENSP00000340554.6:p.Gln6702Ter
ENST00000342175.11:c.20104C>T (TTN) ENSP00000340554.6:p.Gln6702Ter
ENST00000342992.10:c.39019C>T (TTN) ENSP00000343764.6:p.Gln13007Ter
ENST00000342992.11:c.39019C>T (TTN) ENSP00000343764.6:p.Gln13007Ter
ENST00000359218.10:c.19903C>T (TTN) ENSP00000352154.5:p.Gln6635Ter
ENST00000359218.9:c.19903C>T (TTN) ENSP00000352154.5:p.Gln6635Ter
ENST00000460472.6:c.19528C>T (TTN) ENSP00000434586.1:p.Gln6510Ter
ENST00000591111.5:c.41800C>T (TTN) ENSP00000465570.1:p.Gln13934Ter
ENST00000615779.4:c.41800C>T (TTN) ENSP00000483597.1:p.Gln13934Ter
XM_011511729.1:c.45820C>T (TTN) XP_011510031.1:p.Gln15274Ter
XM_011511730.1:c.19714C>T (TTN) XP_011510032.1:p.Gln6572Ter
XM_011511731.1:c.19573C>T (TTN) XP_011510033.1:p.Gln6525Ter
XM_017004819.1:c.45616C>T (TTN) XP_016860308.1:p.Gln15206Ter
XM_017004820.1:c.41014C>T (TTN) XP_016860309.1:p.Gln13672Ter
XM_017004821.1:c.41011C>T (TTN) XP_016860310.1:p.Gln13671Ter
XM_017004822.1:c.38053C>T (TTN) XP_016860311.1:p.Gln12685Ter
XM_017004823.1:c.19669C>T (TTN) XP_016860312.1:p.Gln6557Ter
XM_024453094.1:c.41164C>T (TTN) XP_024308862.1:p.Gln13722Ter
XM_024453095.1:c.41161C>T (TTN) XP_024308863.1:p.Gln13721Ter
XM_024453096.1:c.40594C>T (TTN) XP_024308864.1:p.Gln13532Ter
XM_024453097.1:c.37936C>T (TTN) XP_024308865.1:p.Gln12646Ter
XM_024453098.1:c.37855C>T (TTN) XP_024308866.1:p.Gln12619Ter
XM_024453099.1:c.19618C>T (TTN) XP_024308867.1:p.Gln6540Ter
XM_024453100.1:c.9472C>T (TTN) XP_024308868.1:p.Gln3158Ter