Canonical Allele Identifier: CA1985989

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178535860A>G , CM000664.2:g.178535860A>G GRCh38
NC_000002.11:g.179400587A>G , CM000664.1:g.179400587A>G GRCh37
NC_000002.10:g.179108833A>G NCBI36
NG_011618.3:g.299943T>C , LRG_391:g.299943T>C
NG_051363.1:g.18034A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.93062-11T>C (TTN) ENSP00000343764.6:n.93062-11T>C
ENST00000342175.11:c.74147-11T>C (TTN) ENSP00000340554.6:n.74147-11T>C
ENST00000359218.10:c.73946-11T>C (TTN) ENSP00000352154.5:n.73946-11T>C
ENST00000342175.10:c.74147-11T>C (TTN) ENSP00000340554.6:n.74147-11T>C
ENST00000342992.10:c.93062-11T>C (TTN) ENSP00000343764.6:n.93062-11T>C
ENST00000359218.9:c.73946-11T>C (TTN) ENSP00000352154.5:n.73946-11T>C
ENST00000460472.6:c.73571-11T>C (TTN) ENSP00000434586.1:n.73571-11T>C
ENST00000589042.5:c.100766-11T>C (TTN) MANE Select ENSP00000467141.1:n.100766-11T>C
ENST00000591111.5:c.95843-11T>C (TTN) ENSP00000465570.1:n.95843-11T>C
ENST00000615779.4:c.95843-11T>C (TTN) ENSP00000483597.1:n.95843-11T>C
NM_001256850.1:c.95843-11T>C (TTN) NP_001243779.1:n.95843-11T>C
NM_001267550.2:c.100766-11T>C (TTN) MANE Select NP_001254479.2:n.100766-11T>C
NM_003319.4:c.73571-11T>C (TTN) NP_003310.4:n.73571-11T>C
NM_133378.4:c.93062-11T>C (TTN) NP_596869.4:n.93062-11T>C
NM_133432.3:c.73946-11T>C (TTN) NP_597676.3:n.73946-11T>C
NM_133437.4:c.74147-11T>C (TTN) NP_597681.4:n.74147-11T>C
NR_038271.1:n.446+12224A>G (TTN-AS1)
NR_038272.1:n.316+32A>G (TTN-AS1)
XM_011511729.1:c.99863-11T>C (TTN) XP_011510031.1:n.99863-11T>C
XM_011511730.1:c.73757-11T>C (TTN) XP_011510032.1:n.73757-11T>C
XM_011511731.1:c.73616-11T>C (TTN) XP_011510033.1:n.73616-11T>C
XM_017004819.1:c.99659-11T>C (TTN) XP_016860308.1:n.99659-11T>C
XM_017004820.1:c.95057-11T>C (TTN) XP_016860309.1:n.95057-11T>C
XM_017004821.1:c.95054-11T>C (TTN) XP_016860310.1:n.95054-11T>C
XM_017004822.1:c.92096-11T>C (TTN) XP_016860311.1:n.92096-11T>C
XM_017004823.1:c.73712-11T>C (TTN) XP_016860312.1:n.73712-11T>C
XM_024453094.1:c.95207-11T>C (TTN) XP_024308862.1:n.95207-11T>C
XM_024453095.1:c.95204-11T>C (TTN) XP_024308863.1:n.95204-11T>C
XM_024453096.1:c.94637-11T>C (TTN) XP_024308864.1:n.94637-11T>C
XM_024453097.1:c.91979-11T>C (TTN) XP_024308865.1:n.91979-11T>C
XM_024453098.1:c.91898-11T>C (TTN) XP_024308866.1:n.91898-11T>C
XM_024453099.1:c.73661-11T>C (TTN) XP_024308867.1:n.73661-11T>C
XM_024453100.1:c.63515-11T>C (TTN) XP_024308868.1:n.63515-11T>C