Canonical Allele Identifier: CA2577171488
Community Standard Title: NM_001267550.2(TTN):c.43087-9T>C
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178633053A>G , CM000664.2:g.178633053A>G GRCh38
NC_000002.11:g.179497780A>G , CM000664.1:g.179497780A>G GRCh37
NC_000002.10:g.179206025A>G NCBI36
NG_011618.3:g.202750T>C , LRG_391:g.202750T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.43087-9T>C MANE Select NP_001254479.2:n.43087-9T>C
ENST00000589042.5:c.43087-9T>C MANE Select ENSP00000467141.1:n.43087-9T>C
NM_001256850.1:c.38164-9T>C NP_001243779.1:n.38164-9T>C
NM_003319.4:c.15892-9T>C NP_003310.4:n.15892-9T>C
NM_133378.4:c.35383-9T>C NP_596869.4:n.35383-9T>C
NM_133432.3:c.16267-9T>C NP_597676.3:n.16267-9T>C
NM_133437.4:c.16468-9T>C NP_597681.4:n.16468-9T>C
ENST00000342175.10:c.16468-9T>C ENSP00000340554.6:n.16468-9T>C
ENST00000342175.11:c.16468-9T>C ENSP00000340554.6:n.16468-9T>C
ENST00000342992.10:c.35383-9T>C ENSP00000343764.6:n.35383-9T>C
ENST00000342992.11:c.35383-9T>C ENSP00000343764.6:n.35383-9T>C
ENST00000359218.10:c.16267-9T>C ENSP00000352154.5:n.16267-9T>C
ENST00000359218.9:c.16267-9T>C ENSP00000352154.5:n.16267-9T>C
ENST00000460472.6:c.15892-9T>C ENSP00000434586.1:n.15892-9T>C
ENST00000591111.5:c.38164-9T>C ENSP00000465570.1:n.38164-9T>C
ENST00000615779.4:c.38164-9T>C ENSP00000483597.1:n.38164-9T>C
XM_011511729.1:c.42184-9T>C XP_011510031.1:n.42184-9T>C
XM_011511730.1:c.16078-9T>C XP_011510032.1:n.16078-9T>C
XM_011511731.1:c.15937-9T>C XP_011510033.1:n.15937-9T>C
XM_017004819.1:c.41980-9T>C XP_016860308.1:n.41980-9T>C
XM_017004820.1:c.37378-9T>C XP_016860309.1:n.37378-9T>C
XM_017004821.1:c.37375-9T>C XP_016860310.1:n.37375-9T>C
XM_017004822.1:c.34417-9T>C XP_016860311.1:n.34417-9T>C
XM_017004823.1:c.16033-9T>C XP_016860312.1:n.16033-9T>C
XM_024453094.1:c.37528-9T>C XP_024308862.1:n.37528-9T>C
XM_024453095.1:c.37525-9T>C XP_024308863.1:n.37525-9T>C
XM_024453096.1:c.36958-9T>C XP_024308864.1:n.36958-9T>C
XM_024453097.1:c.34300-9T>C XP_024308865.1:n.34300-9T>C
XM_024453098.1:c.34219-9T>C XP_024308866.1:n.34219-9T>C
XM_024453099.1:c.15982-9T>C XP_024308867.1:n.15982-9T>C
XM_024453100.1:c.5836-9T>C XP_024308868.1:n.5836-9T>C