Canonical Allele Identifier: CA430270019
Community Standard Title: NM_001267550.2(TTN):c.53882-5T>G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178605300A>C , CM000664.2:g.178605300A>C GRCh38
NC_000002.11:g.179470027A>C , CM000664.1:g.179470027A>C GRCh37
NC_000002.10:g.179178272A>C NCBI36
NG_011618.3:g.230503T>G , LRG_391:g.230503T>G
NG_051363.1:g.87474A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.53882-5T>G (TTN) MANE Select NP_001254479.2:n.53882-5T>G
ENST00000589042.5:c.53882-5T>G (TTN) MANE Select ENSP00000467141.1:n.53882-5T>G
NM_001256850.1:c.48959-5T>G (TTN) NP_001243779.1:n.48959-5T>G
NM_003319.4:c.26687-5T>G (TTN) NP_003310.4:n.26687-5T>G
NM_133378.4:c.46178-5T>G (TTN) NP_596869.4:n.46178-5T>G
NM_133432.3:c.27062-5T>G (TTN) NP_597676.3:n.27062-5T>G
NM_133437.4:c.27263-5T>G (TTN) NP_597681.4:n.27263-5T>G
NR_038271.1:n.683-2867A>C (TTN-AS1)
NR_038272.1:n.4487A>C (TTN-AS1)
ENST00000342175.10:c.27263-5T>G (TTN) ENSP00000340554.6:n.27263-5T>G
ENST00000342175.11:c.27263-5T>G (TTN) ENSP00000340554.6:n.27263-5T>G
ENST00000342992.10:c.46178-5T>G (TTN) ENSP00000343764.6:n.46178-5T>G
ENST00000342992.11:c.46178-5T>G (TTN) ENSP00000343764.6:n.46178-5T>G
ENST00000359218.10:c.27062-5T>G (TTN) ENSP00000352154.5:n.27062-5T>G
ENST00000359218.9:c.27062-5T>G (TTN) ENSP00000352154.5:n.27062-5T>G
ENST00000460472.6:c.26687-5T>G (TTN) ENSP00000434586.1:n.26687-5T>G
ENST00000591111.5:c.48959-5T>G (TTN) ENSP00000465570.1:n.48959-5T>G
ENST00000615779.4:c.48959-5T>G (TTN) ENSP00000483597.1:n.48959-5T>G
XM_011511729.1:c.52979-5T>G (TTN) XP_011510031.1:n.52979-5T>G
XM_011511730.1:c.26873-5T>G (TTN) XP_011510032.1:n.26873-5T>G
XM_011511731.1:c.26732-5T>G (TTN) XP_011510033.1:n.26732-5T>G
XM_017004819.1:c.52775-5T>G (TTN) XP_016860308.1:n.52775-5T>G
XM_017004820.1:c.48173-5T>G (TTN) XP_016860309.1:n.48173-5T>G
XM_017004821.1:c.48170-5T>G (TTN) XP_016860310.1:n.48170-5T>G
XM_017004822.1:c.45212-5T>G (TTN) XP_016860311.1:n.45212-5T>G
XM_017004823.1:c.26828-5T>G (TTN) XP_016860312.1:n.26828-5T>G
XM_024453094.1:c.48323-5T>G (TTN) XP_024308862.1:n.48323-5T>G
XM_024453095.1:c.48320-5T>G (TTN) XP_024308863.1:n.48320-5T>G
XM_024453096.1:c.47753-5T>G (TTN) XP_024308864.1:n.47753-5T>G
XM_024453097.1:c.45095-5T>G (TTN) XP_024308865.1:n.45095-5T>G
XM_024453098.1:c.45014-5T>G (TTN) XP_024308866.1:n.45014-5T>G
XM_024453099.1:c.26777-5T>G (TTN) XP_024308867.1:n.26777-5T>G
XM_024453100.1:c.16631-5T>G (TTN) XP_024308868.1:n.16631-5T>G