Canonical Allele Identifier: CA349456676

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544366G>T , CM000664.2:g.178544366G>T GRCh38
NC_000002.11:g.179409093G>T , CM000664.1:g.179409093G>T GRCh37
NC_000002.10:g.179117339G>T NCBI36
NG_011618.3:g.291437C>A , LRG_391:g.291437C>A
NG_051363.1:g.26540G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88159C>A (TTN) ENSP00000343764.6:p.Gln29387Lys
ENST00000342175.11:c.69244C>A (TTN) ENSP00000340554.6:p.Gln23082Lys
ENST00000359218.10:c.69043C>A (TTN) ENSP00000352154.5:p.Gln23015Lys
ENST00000342175.10:c.69244C>A (TTN) ENSP00000340554.6:p.Gln23082Lys
ENST00000342992.10:c.88159C>A (TTN) ENSP00000343764.6:p.Gln29387Lys
ENST00000359218.9:c.69043C>A (TTN) ENSP00000352154.5:p.Gln23015Lys
ENST00000460472.6:c.68668C>A (TTN) ENSP00000434586.1:p.Gln22890Lys
ENST00000589042.5:c.95863C>A (TTN) MANE Select ENSP00000467141.1:p.Gln31955Lys
ENST00000591111.5:c.90940C>A (TTN) ENSP00000465570.1:p.Gln30314Lys
ENST00000615779.4:c.90940C>A (TTN) ENSP00000483597.1:p.Gln30314Lys
NM_001256850.1:c.90940C>A (TTN) NP_001243779.1:p.Gln30314Lys
NM_001267550.2:c.95863C>A (TTN) MANE Select NP_001254479.2:p.Gln31955Lys
NM_003319.4:c.68668C>A (TTN) NP_003310.4:p.Gln22890Lys
NM_133378.4:c.88159C>A (TTN) NP_596869.4:p.Gln29387Lys
NM_133432.3:c.69043C>A (TTN) NP_597676.3:p.Gln23015Lys
NM_133437.4:c.69244C>A (TTN) NP_597681.4:p.Gln23082Lys
NR_038271.1:n.446+20730G>T (TTN-AS1)
NR_038272.1:n.2043+2005G>T (TTN-AS1)
XM_011511729.1:c.94960C>A (TTN) XP_011510031.1:p.Gln31654Lys
XM_011511730.1:c.68854C>A (TTN) XP_011510032.1:p.Gln22952Lys
XM_011511731.1:c.68713C>A (TTN) XP_011510033.1:p.Gln22905Lys
XM_017004819.1:c.94756C>A (TTN) XP_016860308.1:p.Gln31586Lys
XM_017004820.1:c.90154C>A (TTN) XP_016860309.1:p.Gln30052Lys
XM_017004821.1:c.90151C>A (TTN) XP_016860310.1:p.Gln30051Lys
XM_017004822.1:c.87193C>A (TTN) XP_016860311.1:p.Gln29065Lys
XM_017004823.1:c.68809C>A (TTN) XP_016860312.1:p.Gln22937Lys
XM_024453094.1:c.90304C>A (TTN) XP_024308862.1:p.Gln30102Lys
XM_024453095.1:c.90301C>A (TTN) XP_024308863.1:p.Gln30101Lys
XM_024453096.1:c.89734C>A (TTN) XP_024308864.1:p.Gln29912Lys
XM_024453097.1:c.87076C>A (TTN) XP_024308865.1:p.Gln29026Lys
XM_024453098.1:c.86995C>A (TTN) XP_024308866.1:p.Gln28999Lys
XM_024453099.1:c.68758C>A (TTN) XP_024308867.1:p.Gln22920Lys
XM_024453100.1:c.58612C>A (TTN) XP_024308868.1:p.Gln19538Lys