Canonical Allele Identifier: CA349602507
Community Standard Title: NM_001267550.2(TTN):c.49533-2A>G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613278T>C , CM000664.2:g.178613278T>C GRCh38
NC_000002.11:g.179478005T>C , CM000664.1:g.179478005T>C GRCh37
NC_000002.10:g.179186250T>C NCBI36
NG_011618.3:g.222525A>G , LRG_391:g.222525A>G
NG_051363.1:g.95452T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.49533-2A>G (TTN) MANE Select NP_001254479.2:n.49533-2A>G
ENST00000589042.5:c.49533-2A>G (TTN) MANE Select ENSP00000467141.1:n.49533-2A>G
NM_001256850.1:c.44610-2A>G (TTN) NP_001243779.1:n.44610-2A>G
NM_003319.4:c.22338-2A>G (TTN) NP_003310.4:n.22338-2A>G
NM_133378.4:c.41829-2A>G (TTN) NP_596869.4:n.41829-2A>G
NM_133432.3:c.22713-2A>G (TTN) NP_597676.3:n.22713-2A>G
NM_133437.4:c.22914-2A>G (TTN) NP_597681.4:n.22914-2A>G
NR_038271.1:n.783-757T>C (TTN-AS1)
ENST00000342175.10:c.22914-2A>G (TTN) ENSP00000340554.6:n.22914-2A>G
ENST00000342175.11:c.22914-2A>G (TTN) ENSP00000340554.6:n.22914-2A>G
ENST00000342992.10:c.41829-2A>G (TTN) ENSP00000343764.6:n.41829-2A>G
ENST00000342992.11:c.41829-2A>G (TTN) ENSP00000343764.6:n.41829-2A>G
ENST00000359218.10:c.22713-2A>G (TTN) ENSP00000352154.5:n.22713-2A>G
ENST00000359218.9:c.22713-2A>G (TTN) ENSP00000352154.5:n.22713-2A>G
ENST00000460472.6:c.22338-2A>G (TTN) ENSP00000434586.1:n.22338-2A>G
ENST00000591111.5:c.44610-2A>G (TTN) ENSP00000465570.1:n.44610-2A>G
ENST00000615779.4:c.44610-2A>G (TTN) ENSP00000483597.1:n.44610-2A>G
XM_011511729.1:c.48630-2A>G (TTN) XP_011510031.1:n.48630-2A>G
XM_011511730.1:c.22524-2A>G (TTN) XP_011510032.1:n.22524-2A>G
XM_011511731.1:c.22383-2A>G (TTN) XP_011510033.1:n.22383-2A>G
XM_017004819.1:c.48426-2A>G (TTN) XP_016860308.1:n.48426-2A>G
XM_017004820.1:c.43824-2A>G (TTN) XP_016860309.1:n.43824-2A>G
XM_017004821.1:c.43821-2A>G (TTN) XP_016860310.1:n.43821-2A>G
XM_017004822.1:c.40863-2A>G (TTN) XP_016860311.1:n.40863-2A>G
XM_017004823.1:c.22479-2A>G (TTN) XP_016860312.1:n.22479-2A>G
XM_024453094.1:c.43974-2A>G (TTN) XP_024308862.1:n.43974-2A>G
XM_024453095.1:c.43971-2A>G (TTN) XP_024308863.1:n.43971-2A>G
XM_024453096.1:c.43404-2A>G (TTN) XP_024308864.1:n.43404-2A>G
XM_024453097.1:c.40746-2A>G (TTN) XP_024308865.1:n.40746-2A>G
XM_024453098.1:c.40665-2A>G (TTN) XP_024308866.1:n.40665-2A>G
XM_024453099.1:c.22428-2A>G (TTN) XP_024308867.1:n.22428-2A>G
XM_024453100.1:c.12282-2A>G (TTN) XP_024308868.1:n.12282-2A>G