Canonical Allele Identifier: CA349426692
Community Standard Title: NM_001267550.2(TTN):c.100135G>T (p.Glu33379Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536974C>A , CM000664.2:g.178536974C>A GRCh38
NC_000002.11:g.179401701C>A , CM000664.1:g.179401701C>A GRCh37
NC_000002.10:g.179109947C>A NCBI36
NG_011618.3:g.298829G>T , LRG_391:g.298829G>T
NG_051363.1:g.19148C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.100135G>T (TTN) MANE Select NP_001254479.2:p.Glu33379Ter
ENST00000589042.5:c.100135G>T (TTN) MANE Select ENSP00000467141.1:p.Glu33379Ter
NM_001256850.1:c.95212G>T (TTN) NP_001243779.1:p.Glu31738Ter
NM_003319.4:c.72940G>T (TTN) NP_003310.4:p.Glu24314Ter
NM_133378.4:c.92431G>T (TTN) NP_596869.4:p.Glu30811Ter
NM_133432.3:c.73315G>T (TTN) NP_597676.3:p.Glu24439Ter
NM_133437.4:c.73516G>T (TTN) NP_597681.4:p.Glu24506Ter
NR_038271.1:n.446+13338C>A (TTN-AS1)
NR_038272.1:n.317-387C>A (TTN-AS1)
ENST00000342175.10:c.73516G>T (TTN) ENSP00000340554.6:p.Glu24506Ter
ENST00000342175.11:c.73516G>T (TTN) ENSP00000340554.6:p.Glu24506Ter
ENST00000342992.10:c.92431G>T (TTN) ENSP00000343764.6:p.Glu30811Ter
ENST00000342992.11:c.92431G>T (TTN) ENSP00000343764.6:p.Glu30811Ter
ENST00000359218.10:c.73315G>T (TTN) ENSP00000352154.5:p.Glu24439Ter
ENST00000359218.9:c.73315G>T (TTN) ENSP00000352154.5:p.Glu24439Ter
ENST00000460472.6:c.72940G>T (TTN) ENSP00000434586.1:p.Glu24314Ter
ENST00000591111.5:c.95212G>T (TTN) ENSP00000465570.1:p.Glu31738Ter
ENST00000615779.4:c.95212G>T (TTN) ENSP00000483597.1:p.Glu31738Ter
XM_011511729.1:c.99232G>T (TTN) XP_011510031.1:p.Glu33078Ter
XM_011511730.1:c.73126G>T (TTN) XP_011510032.1:p.Glu24376Ter
XM_011511731.1:c.72985G>T (TTN) XP_011510033.1:p.Glu24329Ter
XM_017004819.1:c.99028G>T (TTN) XP_016860308.1:p.Glu33010Ter
XM_017004820.1:c.94426G>T (TTN) XP_016860309.1:p.Glu31476Ter
XM_017004821.1:c.94423G>T (TTN) XP_016860310.1:p.Glu31475Ter
XM_017004822.1:c.91465G>T (TTN) XP_016860311.1:p.Glu30489Ter
XM_017004823.1:c.73081G>T (TTN) XP_016860312.1:p.Glu24361Ter
XM_024453094.1:c.94576G>T (TTN) XP_024308862.1:p.Glu31526Ter
XM_024453095.1:c.94573G>T (TTN) XP_024308863.1:p.Glu31525Ter
XM_024453096.1:c.94006G>T (TTN) XP_024308864.1:p.Glu31336Ter
XM_024453097.1:c.91348G>T (TTN) XP_024308865.1:p.Glu30450Ter
XM_024453098.1:c.91267G>T (TTN) XP_024308866.1:p.Glu30423Ter
XM_024453099.1:c.73030G>T (TTN) XP_024308867.1:p.Glu24344Ter
XM_024453100.1:c.62884G>T (TTN) XP_024308868.1:p.Glu20962Ter