Canonical Allele Identifier: CA349434186
Community Standard Title: NM_001267550.2(TTN):c.65437C>T (p.Gln21813Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178583745G>A , CM000664.2:g.178583745G>A GRCh38
NC_000002.11:g.179448472G>A , CM000664.1:g.179448472G>A GRCh37
NC_000002.10:g.179156718G>A NCBI36
NG_011618.3:g.252058C>T , LRG_391:g.252058C>T
NG_051363.1:g.65919G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.65437C>T (TTN) MANE Select NP_001254479.2:p.Gln21813Ter
ENST00000589042.5:c.65437C>T (TTN) MANE Select ENSP00000467141.1:p.Gln21813Ter
NM_001256850.1:c.60514C>T (TTN) NP_001243779.1:p.Gln20172Ter
NM_003319.4:c.38242C>T (TTN) NP_003310.4:p.Gln12748Ter
NM_133378.4:c.57733C>T (TTN) NP_596869.4:p.Gln19245Ter
NM_133432.3:c.38617C>T (TTN) NP_597676.3:p.Gln12873Ter
NM_133437.4:c.38818C>T (TTN) NP_597681.4:p.Gln12940Ter
NR_038271.1:n.596+12296G>A (TTN-AS1)
NR_038272.1:n.2591G>A (TTN-AS1)
ENST00000342175.10:c.38818C>T (TTN) ENSP00000340554.6:p.Gln12940Ter
ENST00000342175.11:c.38818C>T (TTN) ENSP00000340554.6:p.Gln12940Ter
ENST00000342992.10:c.57733C>T (TTN) ENSP00000343764.6:p.Gln19245Ter
ENST00000342992.11:c.57733C>T (TTN) ENSP00000343764.6:p.Gln19245Ter
ENST00000359218.10:c.38617C>T (TTN) ENSP00000352154.5:p.Gln12873Ter
ENST00000359218.9:c.38617C>T (TTN) ENSP00000352154.5:p.Gln12873Ter
ENST00000460472.6:c.38242C>T (TTN) ENSP00000434586.1:p.Gln12748Ter
ENST00000591111.5:c.60514C>T (TTN) ENSP00000465570.1:p.Gln20172Ter
ENST00000615779.4:c.60514C>T (TTN) ENSP00000483597.1:p.Gln20172Ter
XM_011511729.1:c.64534C>T (TTN) XP_011510031.1:p.Gln21512Ter
XM_011511730.1:c.38428C>T (TTN) XP_011510032.1:p.Gln12810Ter
XM_011511731.1:c.38287C>T (TTN) XP_011510033.1:p.Gln12763Ter
XM_017004819.1:c.64330C>T (TTN) XP_016860308.1:p.Gln21444Ter
XM_017004820.1:c.59728C>T (TTN) XP_016860309.1:p.Gln19910Ter
XM_017004821.1:c.59725C>T (TTN) XP_016860310.1:p.Gln19909Ter
XM_017004822.1:c.56767C>T (TTN) XP_016860311.1:p.Gln18923Ter
XM_017004823.1:c.38383C>T (TTN) XP_016860312.1:p.Gln12795Ter
XM_024453094.1:c.59878C>T (TTN) XP_024308862.1:p.Gln19960Ter
XM_024453095.1:c.59875C>T (TTN) XP_024308863.1:p.Gln19959Ter
XM_024453096.1:c.59308C>T (TTN) XP_024308864.1:p.Gln19770Ter
XM_024453097.1:c.56650C>T (TTN) XP_024308865.1:p.Gln18884Ter
XM_024453098.1:c.56569C>T (TTN) XP_024308866.1:p.Gln18857Ter
XM_024453099.1:c.38332C>T (TTN) XP_024308867.1:p.Gln12778Ter
XM_024453100.1:c.28186C>T (TTN) XP_024308868.1:p.Gln9396Ter