Canonical Allele Identifier: CA349490501
Community Standard Title: NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178592137G>A , CM000664.2:g.178592137G>A GRCh38
NC_000002.11:g.179456864G>A , CM000664.1:g.179456864G>A GRCh37
NC_000002.10:g.179165110G>A NCBI36
NG_011618.3:g.243666C>T , LRG_391:g.243666C>T
NG_051363.1:g.74311G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.59767C>T (TTN) MANE Select NP_001254479.2:p.Gln19923Ter
ENST00000589042.5:c.59767C>T (TTN) MANE Select ENSP00000467141.1:p.Gln19923Ter
NM_001256850.1:c.54844C>T (TTN) NP_001243779.1:p.Gln18282Ter
NM_003319.4:c.32572C>T (TTN) NP_003310.4:p.Gln10858Ter
NM_133378.4:c.52063C>T (TTN) NP_596869.4:p.Gln17355Ter
NM_133432.3:c.32947C>T (TTN) NP_597676.3:p.Gln10983Ter
NM_133437.4:c.33148C>T (TTN) NP_597681.4:p.Gln11050Ter
NR_038271.1:n.597-5459G>A (TTN-AS1)
NR_038272.1:n.3364+823G>A (TTN-AS1)
ENST00000342175.10:c.33148C>T (TTN) ENSP00000340554.6:p.Gln11050Ter
ENST00000342175.11:c.33148C>T (TTN) ENSP00000340554.6:p.Gln11050Ter
ENST00000342992.10:c.52063C>T (TTN) ENSP00000343764.6:p.Gln17355Ter
ENST00000342992.11:c.52063C>T (TTN) ENSP00000343764.6:p.Gln17355Ter
ENST00000359218.10:c.32947C>T (TTN) ENSP00000352154.5:p.Gln10983Ter
ENST00000359218.9:c.32947C>T (TTN) ENSP00000352154.5:p.Gln10983Ter
ENST00000460472.6:c.32572C>T (TTN) ENSP00000434586.1:p.Gln10858Ter
ENST00000591111.5:c.54844C>T (TTN) ENSP00000465570.1:p.Gln18282Ter
ENST00000615779.4:c.54844C>T (TTN) ENSP00000483597.1:p.Gln18282Ter
XM_011511729.1:c.58864C>T (TTN) XP_011510031.1:p.Gln19622Ter
XM_011511730.1:c.32758C>T (TTN) XP_011510032.1:p.Gln10920Ter
XM_011511731.1:c.32617C>T (TTN) XP_011510033.1:p.Gln10873Ter
XM_017004819.1:c.58660C>T (TTN) XP_016860308.1:p.Gln19554Ter
XM_017004820.1:c.54058C>T (TTN) XP_016860309.1:p.Gln18020Ter
XM_017004821.1:c.54055C>T (TTN) XP_016860310.1:p.Gln18019Ter
XM_017004822.1:c.51097C>T (TTN) XP_016860311.1:p.Gln17033Ter
XM_017004823.1:c.32713C>T (TTN) XP_016860312.1:p.Gln10905Ter
XM_024453094.1:c.54208C>T (TTN) XP_024308862.1:p.Gln18070Ter
XM_024453095.1:c.54205C>T (TTN) XP_024308863.1:p.Gln18069Ter
XM_024453096.1:c.53638C>T (TTN) XP_024308864.1:p.Gln17880Ter
XM_024453097.1:c.50980C>T (TTN) XP_024308865.1:p.Gln16994Ter
XM_024453098.1:c.50899C>T (TTN) XP_024308866.1:p.Gln16967Ter
XM_024453099.1:c.32662C>T (TTN) XP_024308867.1:p.Gln10888Ter
XM_024453100.1:c.22516C>T (TTN) XP_024308868.1:p.Gln7506Ter