Canonical Allele Identifier: CA349487075
Community Standard Title: NM_001267550.2(TTN):c.60124C>T (p.Gln20042Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591695G>A , CM000664.2:g.178591695G>A GRCh38
NC_000002.11:g.179456422G>A , CM000664.1:g.179456422G>A GRCh37
NC_000002.10:g.179164668G>A NCBI36
NG_011618.3:g.244108C>T , LRG_391:g.244108C>T
NG_051363.1:g.73869G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.60124C>T (TTN) MANE Select NP_001254479.2:p.Gln20042Ter
ENST00000589042.5:c.60124C>T (TTN) MANE Select ENSP00000467141.1:p.Gln20042Ter
NM_001256850.1:c.55201C>T (TTN) NP_001243779.1:p.Gln18401Ter
NM_003319.4:c.32929C>T (TTN) NP_003310.4:p.Gln10977Ter
NM_133378.4:c.52420C>T (TTN) NP_596869.4:p.Gln17474Ter
NM_133432.3:c.33304C>T (TTN) NP_597676.3:p.Gln11102Ter
NM_133437.4:c.33505C>T (TTN) NP_597681.4:p.Gln11169Ter
NR_038271.1:n.597-5901G>A (TTN-AS1)
NR_038272.1:n.3364+381G>A (TTN-AS1)
ENST00000342175.10:c.33505C>T (TTN) ENSP00000340554.6:p.Gln11169Ter
ENST00000342175.11:c.33505C>T (TTN) ENSP00000340554.6:p.Gln11169Ter
ENST00000342992.10:c.52420C>T (TTN) ENSP00000343764.6:p.Gln17474Ter
ENST00000342992.11:c.52420C>T (TTN) ENSP00000343764.6:p.Gln17474Ter
ENST00000359218.10:c.33304C>T (TTN) ENSP00000352154.5:p.Gln11102Ter
ENST00000359218.9:c.33304C>T (TTN) ENSP00000352154.5:p.Gln11102Ter
ENST00000460472.6:c.32929C>T (TTN) ENSP00000434586.1:p.Gln10977Ter
ENST00000591111.5:c.55201C>T (TTN) ENSP00000465570.1:p.Gln18401Ter
ENST00000615779.4:c.55201C>T (TTN) ENSP00000483597.1:p.Gln18401Ter
XM_011511729.1:c.59221C>T (TTN) XP_011510031.1:p.Gln19741Ter
XM_011511730.1:c.33115C>T (TTN) XP_011510032.1:p.Gln11039Ter
XM_011511731.1:c.32974C>T (TTN) XP_011510033.1:p.Gln10992Ter
XM_017004819.1:c.59017C>T (TTN) XP_016860308.1:p.Gln19673Ter
XM_017004820.1:c.54415C>T (TTN) XP_016860309.1:p.Gln18139Ter
XM_017004821.1:c.54412C>T (TTN) XP_016860310.1:p.Gln18138Ter
XM_017004822.1:c.51454C>T (TTN) XP_016860311.1:p.Gln17152Ter
XM_017004823.1:c.33070C>T (TTN) XP_016860312.1:p.Gln11024Ter
XM_024453094.1:c.54565C>T (TTN) XP_024308862.1:p.Gln18189Ter
XM_024453095.1:c.54562C>T (TTN) XP_024308863.1:p.Gln18188Ter
XM_024453096.1:c.53995C>T (TTN) XP_024308864.1:p.Gln17999Ter
XM_024453097.1:c.51337C>T (TTN) XP_024308865.1:p.Gln17113Ter
XM_024453098.1:c.51256C>T (TTN) XP_024308866.1:p.Gln17086Ter
XM_024453099.1:c.33019C>T (TTN) XP_024308867.1:p.Gln11007Ter
XM_024453100.1:c.22873C>T (TTN) XP_024308868.1:p.Gln7625Ter