Canonical Allele Identifier: CA349601647
Community Standard Title: NM_001267550.2(TTN):c.49649-2A>T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613074T>A , CM000664.2:g.178613074T>A GRCh38
NC_000002.11:g.179477801T>A , CM000664.1:g.179477801T>A GRCh37
NC_000002.10:g.179186046T>A NCBI36
NG_011618.3:g.222729A>T , LRG_391:g.222729A>T
NG_051363.1:g.95248T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.49649-2A>T (TTN) MANE Select NP_001254479.2:n.49649-2A>T
ENST00000589042.5:c.49649-2A>T (TTN) MANE Select ENSP00000467141.1:n.49649-2A>T
NM_001256850.1:c.44726-2A>T (TTN) NP_001243779.1:n.44726-2A>T
NM_003319.4:c.22454-2A>T (TTN) NP_003310.4:n.22454-2A>T
NM_133378.4:c.41945-2A>T (TTN) NP_596869.4:n.41945-2A>T
NM_133432.3:c.22829-2A>T (TTN) NP_597676.3:n.22829-2A>T
NM_133437.4:c.23030-2A>T (TTN) NP_597681.4:n.23030-2A>T
NR_038271.1:n.783-961T>A (TTN-AS1)
ENST00000342175.10:c.23030-2A>T (TTN) ENSP00000340554.6:n.23030-2A>T
ENST00000342175.11:c.23030-2A>T (TTN) ENSP00000340554.6:n.23030-2A>T
ENST00000342992.10:c.41945-2A>T (TTN) ENSP00000343764.6:n.41945-2A>T
ENST00000342992.11:c.41945-2A>T (TTN) ENSP00000343764.6:n.41945-2A>T
ENST00000359218.10:c.22829-2A>T (TTN) ENSP00000352154.5:n.22829-2A>T
ENST00000359218.9:c.22829-2A>T (TTN) ENSP00000352154.5:n.22829-2A>T
ENST00000460472.6:c.22454-2A>T (TTN) ENSP00000434586.1:n.22454-2A>T
ENST00000591111.5:c.44726-2A>T (TTN) ENSP00000465570.1:n.44726-2A>T
ENST00000615779.4:c.44726-2A>T (TTN) ENSP00000483597.1:n.44726-2A>T
XM_011511729.1:c.48746-2A>T (TTN) XP_011510031.1:n.48746-2A>T
XM_011511730.1:c.22640-2A>T (TTN) XP_011510032.1:n.22640-2A>T
XM_011511731.1:c.22499-2A>T (TTN) XP_011510033.1:n.22499-2A>T
XM_017004819.1:c.48542-2A>T (TTN) XP_016860308.1:n.48542-2A>T
XM_017004820.1:c.43940-2A>T (TTN) XP_016860309.1:n.43940-2A>T
XM_017004821.1:c.43937-2A>T (TTN) XP_016860310.1:n.43937-2A>T
XM_017004822.1:c.40979-2A>T (TTN) XP_016860311.1:n.40979-2A>T
XM_017004823.1:c.22595-2A>T (TTN) XP_016860312.1:n.22595-2A>T
XM_024453094.1:c.44090-2A>T (TTN) XP_024308862.1:n.44090-2A>T
XM_024453095.1:c.44087-2A>T (TTN) XP_024308863.1:n.44087-2A>T
XM_024453096.1:c.43520-2A>T (TTN) XP_024308864.1:n.43520-2A>T
XM_024453097.1:c.40862-2A>T (TTN) XP_024308865.1:n.40862-2A>T
XM_024453098.1:c.40781-2A>T (TTN) XP_024308866.1:n.40781-2A>T
XM_024453099.1:c.22544-2A>T (TTN) XP_024308867.1:n.22544-2A>T
XM_024453100.1:c.12398-2A>T (TTN) XP_024308868.1:n.12398-2A>T