Canonical Allele Identifier: CA349443997
Community Standard Title: NM_001267550.2(TTN):c.64094-1G>C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178586808C>G , CM000664.2:g.178586808C>G GRCh38
NC_000002.11:g.179451535C>G , CM000664.1:g.179451535C>G GRCh37
NC_000002.10:g.179159781C>G NCBI36
NG_011618.3:g.248995G>C , LRG_391:g.248995G>C
NG_051363.1:g.68982C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64094-1G>C (TTN) MANE Select NP_001254479.2:n.64094-1G>C
ENST00000589042.5:c.64094-1G>C (TTN) MANE Select ENSP00000467141.1:n.64094-1G>C
NM_001256850.1:c.59171-1G>C (TTN) NP_001243779.1:n.59171-1G>C
NM_003319.4:c.36899-1G>C (TTN) NP_003310.4:n.36899-1G>C
NM_133378.4:c.56390-1G>C (TTN) NP_596869.4:n.56390-1G>C
NM_133432.3:c.37274-1G>C (TTN) NP_597676.3:n.37274-1G>C
NM_133437.4:c.37475-1G>C (TTN) NP_597681.4:n.37475-1G>C
NR_038271.1:n.597-10788C>G (TTN-AS1)
NR_038272.1:n.3188+1815C>G (TTN-AS1)
ENST00000342175.10:c.37475-1G>C (TTN) ENSP00000340554.6:n.37475-1G>C
ENST00000342175.11:c.37475-1G>C (TTN) ENSP00000340554.6:n.37475-1G>C
ENST00000342992.10:c.56390-1G>C (TTN) ENSP00000343764.6:n.56390-1G>C
ENST00000342992.11:c.56390-1G>C (TTN) ENSP00000343764.6:n.56390-1G>C
ENST00000359218.10:c.37274-1G>C (TTN) ENSP00000352154.5:n.37274-1G>C
ENST00000359218.9:c.37274-1G>C (TTN) ENSP00000352154.5:n.37274-1G>C
ENST00000460472.6:c.36899-1G>C (TTN) ENSP00000434586.1:n.36899-1G>C
ENST00000591111.5:c.59171-1G>C (TTN) ENSP00000465570.1:n.59171-1G>C
ENST00000615779.4:c.59171-1G>C (TTN) ENSP00000483597.1:n.59171-1G>C
XM_011511729.1:c.63191-1G>C (TTN) XP_011510031.1:n.63191-1G>C
XM_011511730.1:c.37085-1G>C (TTN) XP_011510032.1:n.37085-1G>C
XM_011511731.1:c.36944-1G>C (TTN) XP_011510033.1:n.36944-1G>C
XM_017004819.1:c.62987-1G>C (TTN) XP_016860308.1:n.62987-1G>C
XM_017004820.1:c.58385-1G>C (TTN) XP_016860309.1:n.58385-1G>C
XM_017004821.1:c.58382-1G>C (TTN) XP_016860310.1:n.58382-1G>C
XM_017004822.1:c.55424-1G>C (TTN) XP_016860311.1:n.55424-1G>C
XM_017004823.1:c.37040-1G>C (TTN) XP_016860312.1:n.37040-1G>C
XM_024453094.1:c.58535-1G>C (TTN) XP_024308862.1:n.58535-1G>C
XM_024453095.1:c.58532-1G>C (TTN) XP_024308863.1:n.58532-1G>C
XM_024453096.1:c.57965-1G>C (TTN) XP_024308864.1:n.57965-1G>C
XM_024453097.1:c.55307-1G>C (TTN) XP_024308865.1:n.55307-1G>C
XM_024453098.1:c.55226-1G>C (TTN) XP_024308866.1:n.55226-1G>C
XM_024453099.1:c.36989-1G>C (TTN) XP_024308867.1:n.36989-1G>C
XM_024453100.1:c.26843-1G>C (TTN) XP_024308868.1:n.26843-1G>C