Canonical Allele Identifier: CA349606840
Community Standard Title: NM_001267550.2(TTN):c.49049-2A>C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614350T>G , CM000664.2:g.178614350T>G GRCh38
NC_000002.11:g.179479077T>G , CM000664.1:g.179479077T>G GRCh37
NC_000002.10:g.179187322T>G NCBI36
NG_011618.3:g.221453A>C , LRG_391:g.221453A>C
NG_051363.1:g.96524T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.49049-2A>C (TTN) MANE Select NP_001254479.2:n.49049-2A>C
ENST00000589042.5:c.49049-2A>C (TTN) MANE Select ENSP00000467141.1:n.49049-2A>C
NM_001256850.1:c.44126-2A>C (TTN) NP_001243779.1:n.44126-2A>C
NM_003319.4:c.21854-2A>C (TTN) NP_003310.4:n.21854-2A>C
NM_133378.4:c.41345-2A>C (TTN) NP_596869.4:n.41345-2A>C
NM_133432.3:c.22229-2A>C (TTN) NP_597676.3:n.22229-2A>C
NM_133437.4:c.22430-2A>C (TTN) NP_597681.4:n.22430-2A>C
NR_038271.1:n.1098T>G (TTN-AS1)
ENST00000342175.10:c.22430-2A>C (TTN) ENSP00000340554.6:n.22430-2A>C
ENST00000342175.11:c.22430-2A>C (TTN) ENSP00000340554.6:n.22430-2A>C
ENST00000342992.10:c.41345-2A>C (TTN) ENSP00000343764.6:n.41345-2A>C
ENST00000342992.11:c.41345-2A>C (TTN) ENSP00000343764.6:n.41345-2A>C
ENST00000359218.10:c.22229-2A>C (TTN) ENSP00000352154.5:n.22229-2A>C
ENST00000359218.9:c.22229-2A>C (TTN) ENSP00000352154.5:n.22229-2A>C
ENST00000460472.6:c.21854-2A>C (TTN) ENSP00000434586.1:n.21854-2A>C
ENST00000591111.5:c.44126-2A>C (TTN) ENSP00000465570.1:n.44126-2A>C
ENST00000615779.4:c.44126-2A>C (TTN) ENSP00000483597.1:n.44126-2A>C
XM_011511729.1:c.48146-2A>C (TTN) XP_011510031.1:n.48146-2A>C
XM_011511730.1:c.22040-2A>C (TTN) XP_011510032.1:n.22040-2A>C
XM_011511731.1:c.21899-2A>C (TTN) XP_011510033.1:n.21899-2A>C
XM_017004819.1:c.47942-2A>C (TTN) XP_016860308.1:n.47942-2A>C
XM_017004820.1:c.43340-2A>C (TTN) XP_016860309.1:n.43340-2A>C
XM_017004821.1:c.43337-2A>C (TTN) XP_016860310.1:n.43337-2A>C
XM_017004822.1:c.40379-2A>C (TTN) XP_016860311.1:n.40379-2A>C
XM_017004823.1:c.21995-2A>C (TTN) XP_016860312.1:n.21995-2A>C
XM_024453094.1:c.43490-2A>C (TTN) XP_024308862.1:n.43490-2A>C
XM_024453095.1:c.43487-2A>C (TTN) XP_024308863.1:n.43487-2A>C
XM_024453096.1:c.42920-2A>C (TTN) XP_024308864.1:n.42920-2A>C
XM_024453097.1:c.40262-2A>C (TTN) XP_024308865.1:n.40262-2A>C
XM_024453098.1:c.40181-2A>C (TTN) XP_024308866.1:n.40181-2A>C
XM_024453099.1:c.21944-2A>C (TTN) XP_024308867.1:n.21944-2A>C
XM_024453100.1:c.11798-2A>C (TTN) XP_024308868.1:n.11798-2A>C