Canonical Allele Identifier: CA349568944

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607686C>T , CM000664.2:g.178607686C>T GRCh38
NC_000002.11:g.179472413C>T , CM000664.1:g.179472413C>T GRCh37
NC_000002.10:g.179180658C>T NCBI36
NG_011618.3:g.228117G>A , LRG_391:g.228117G>A
NG_051363.1:g.89860C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.45299-1G>A (TTN) ENSP00000343764.6:n.45299-1G>A
ENST00000342175.11:c.26384-1G>A (TTN) ENSP00000340554.6:n.26384-1G>A
ENST00000359218.10:c.26183-1G>A (TTN) ENSP00000352154.5:n.26183-1G>A
ENST00000342175.10:c.26384-1G>A (TTN) ENSP00000340554.6:n.26384-1G>A
ENST00000342992.10:c.45299-1G>A (TTN) ENSP00000343764.6:n.45299-1G>A
ENST00000359218.9:c.26183-1G>A (TTN) ENSP00000352154.5:n.26183-1G>A
ENST00000460472.6:c.25808-1G>A (TTN) ENSP00000434586.1:n.25808-1G>A
ENST00000589042.5:c.53003-1G>A (TTN) MANE Select ENSP00000467141.1:n.53003-1G>A
ENST00000591111.5:c.48080-1G>A (TTN) ENSP00000465570.1:n.48080-1G>A
ENST00000615779.4:c.48080-1G>A (TTN) ENSP00000483597.1:n.48080-1G>A
NM_001256850.1:c.48080-1G>A (TTN) NP_001243779.1:n.48080-1G>A
NM_001267550.2:c.53003-1G>A (TTN) MANE Select NP_001254479.2:n.53003-1G>A
NM_003319.4:c.25808-1G>A (TTN) NP_003310.4:n.25808-1G>A
NM_133378.4:c.45299-1G>A (TTN) NP_596869.4:n.45299-1G>A
NM_133432.3:c.26183-1G>A (TTN) NP_597676.3:n.26183-1G>A
NM_133437.4:c.26384-1G>A (TTN) NP_597681.4:n.26384-1G>A
NR_038271.1:n.683-481C>T (TTN-AS1)
XM_011511729.1:c.52100-1G>A (TTN) XP_011510031.1:n.52100-1G>A
XM_011511730.1:c.25994-1G>A (TTN) XP_011510032.1:n.25994-1G>A
XM_011511731.1:c.25853-1G>A (TTN) XP_011510033.1:n.25853-1G>A
XM_017004819.1:c.51896-1G>A (TTN) XP_016860308.1:n.51896-1G>A
XM_017004820.1:c.47294-1G>A (TTN) XP_016860309.1:n.47294-1G>A
XM_017004821.1:c.47291-1G>A (TTN) XP_016860310.1:n.47291-1G>A
XM_017004822.1:c.44333-1G>A (TTN) XP_016860311.1:n.44333-1G>A
XM_017004823.1:c.25949-1G>A (TTN) XP_016860312.1:n.25949-1G>A
XM_024453094.1:c.47444-1G>A (TTN) XP_024308862.1:n.47444-1G>A
XM_024453095.1:c.47441-1G>A (TTN) XP_024308863.1:n.47441-1G>A
XM_024453096.1:c.46874-1G>A (TTN) XP_024308864.1:n.46874-1G>A
XM_024453097.1:c.44216-1G>A (TTN) XP_024308865.1:n.44216-1G>A
XM_024453098.1:c.44135-1G>A (TTN) XP_024308866.1:n.44135-1G>A
XM_024453099.1:c.25898-1G>A (TTN) XP_024308867.1:n.25898-1G>A
XM_024453100.1:c.15752-1G>A (TTN) XP_024308868.1:n.15752-1G>A