Canonical Allele Identifier: CA349429929
Community Standard Title: NM_001267550.2(TTN):c.66079C>T (p.Gln22027Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178582377G>A , CM000664.2:g.178582377G>A GRCh38
NC_000002.11:g.179447104G>A , CM000664.1:g.179447104G>A GRCh37
NC_000002.10:g.179155350G>A NCBI36
NG_011618.3:g.253426C>T , LRG_391:g.253426C>T
NG_051363.1:g.64551G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66079C>T (TTN) MANE Select NP_001254479.2:p.Gln22027Ter
ENST00000589042.5:c.66079C>T (TTN) MANE Select ENSP00000467141.1:p.Gln22027Ter
NM_001256850.1:c.61156C>T (TTN) NP_001243779.1:p.Gln20386Ter
NM_003319.4:c.38884C>T (TTN) NP_003310.4:p.Gln12962Ter
NM_133378.4:c.58375C>T (TTN) NP_596869.4:p.Gln19459Ter
NM_133432.3:c.39259C>T (TTN) NP_597676.3:p.Gln13087Ter
NM_133437.4:c.39460C>T (TTN) NP_597681.4:p.Gln13154Ter
NR_038271.1:n.596+10928G>A (TTN-AS1)
NR_038272.1:n.2044-195G>A (TTN-AS1)
ENST00000342175.10:c.39460C>T (TTN) ENSP00000340554.6:p.Gln13154Ter
ENST00000342175.11:c.39460C>T (TTN) ENSP00000340554.6:p.Gln13154Ter
ENST00000342992.10:c.58375C>T (TTN) ENSP00000343764.6:p.Gln19459Ter
ENST00000342992.11:c.58375C>T (TTN) ENSP00000343764.6:p.Gln19459Ter
ENST00000359218.10:c.39259C>T (TTN) ENSP00000352154.5:p.Gln13087Ter
ENST00000359218.9:c.39259C>T (TTN) ENSP00000352154.5:p.Gln13087Ter
ENST00000460472.6:c.38884C>T (TTN) ENSP00000434586.1:p.Gln12962Ter
ENST00000591111.5:c.61156C>T (TTN) ENSP00000465570.1:p.Gln20386Ter
ENST00000615779.4:c.61156C>T (TTN) ENSP00000483597.1:p.Gln20386Ter
XM_011511729.1:c.65176C>T (TTN) XP_011510031.1:p.Gln21726Ter
XM_011511730.1:c.39070C>T (TTN) XP_011510032.1:p.Gln13024Ter
XM_011511731.1:c.38929C>T (TTN) XP_011510033.1:p.Gln12977Ter
XM_017004819.1:c.64972C>T (TTN) XP_016860308.1:p.Gln21658Ter
XM_017004820.1:c.60370C>T (TTN) XP_016860309.1:p.Gln20124Ter
XM_017004821.1:c.60367C>T (TTN) XP_016860310.1:p.Gln20123Ter
XM_017004822.1:c.57409C>T (TTN) XP_016860311.1:p.Gln19137Ter
XM_017004823.1:c.39025C>T (TTN) XP_016860312.1:p.Gln13009Ter
XM_024453094.1:c.60520C>T (TTN) XP_024308862.1:p.Gln20174Ter
XM_024453095.1:c.60517C>T (TTN) XP_024308863.1:p.Gln20173Ter
XM_024453096.1:c.59950C>T (TTN) XP_024308864.1:p.Gln19984Ter
XM_024453097.1:c.57292C>T (TTN) XP_024308865.1:p.Gln19098Ter
XM_024453098.1:c.57211C>T (TTN) XP_024308866.1:p.Gln19071Ter
XM_024453099.1:c.38974C>T (TTN) XP_024308867.1:p.Gln12992Ter
XM_024453100.1:c.28828C>T (TTN) XP_024308868.1:p.Gln9610Ter