Canonical Allele Identifier: CA349673184

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178578642G>C , CM000664.2:g.178578642G>C GRCh38
NC_000002.11:g.179443369G>C , CM000664.1:g.179443369G>C GRCh37
NC_000002.10:g.179151615G>C NCBI36
NG_011618.3:g.257161C>G , LRG_391:g.257161C>G
NG_051363.1:g.60816G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.60594C>G (TTN) ENSP00000343764.6:p.Asp20198Glu
ENST00000342175.11:c.41679C>G (TTN) ENSP00000340554.6:p.Asp13893Glu
ENST00000359218.10:c.41478C>G (TTN) ENSP00000352154.5:p.Asp13826Glu
ENST00000342175.10:c.41679C>G (TTN) ENSP00000340554.6:p.Asp13893Glu
ENST00000342992.10:c.60594C>G (TTN) ENSP00000343764.6:p.Asp20198Glu
ENST00000359218.9:c.41478C>G (TTN) ENSP00000352154.5:p.Asp13826Glu
ENST00000460472.6:c.41103C>G (TTN) ENSP00000434586.1:p.Asp13701Glu
ENST00000589042.5:c.68298C>G (TTN) MANE Select ENSP00000467141.1:p.Asp22766Glu
ENST00000591111.5:c.63375C>G (TTN) ENSP00000465570.1:p.Asp21125Glu
ENST00000615779.4:c.63375C>G (TTN) ENSP00000483597.1:p.Asp21125Glu
NM_001256850.1:c.63375C>G (TTN) NP_001243779.1:p.Asp21125Glu
NM_001267550.2:c.68298C>G (TTN) MANE Select NP_001254479.2:p.Asp22766Glu
NM_003319.4:c.41103C>G (TTN) NP_003310.4:p.Asp13701Glu
NM_133378.4:c.60594C>G (TTN) NP_596869.4:p.Asp20198Glu
NM_133432.3:c.41478C>G (TTN) NP_597676.3:p.Asp13826Glu
NM_133437.4:c.41679C>G (TTN) NP_597681.4:p.Asp13893Glu
NR_038271.1:n.596+7193G>C (TTN-AS1)
NR_038272.1:n.2044-3930G>C (TTN-AS1)
XM_011511729.1:c.67395C>G (TTN) XP_011510031.1:p.Asp22465Glu
XM_011511730.1:c.41289C>G (TTN) XP_011510032.1:p.Asp13763Glu
XM_011511731.1:c.41148C>G (TTN) XP_011510033.1:p.Asp13716Glu
XM_017004819.1:c.67191C>G (TTN) XP_016860308.1:p.Asp22397Glu
XM_017004820.1:c.62589C>G (TTN) XP_016860309.1:p.Asp20863Glu
XM_017004821.1:c.62586C>G (TTN) XP_016860310.1:p.Asp20862Glu
XM_017004822.1:c.59628C>G (TTN) XP_016860311.1:p.Asp19876Glu
XM_017004823.1:c.41244C>G (TTN) XP_016860312.1:p.Asp13748Glu
XM_024453094.1:c.62739C>G (TTN) XP_024308862.1:p.Asp20913Glu
XM_024453095.1:c.62736C>G (TTN) XP_024308863.1:p.Asp20912Glu
XM_024453096.1:c.62169C>G (TTN) XP_024308864.1:p.Asp20723Glu
XM_024453097.1:c.59511C>G (TTN) XP_024308865.1:p.Asp19837Glu
XM_024453098.1:c.59430C>G (TTN) XP_024308866.1:p.Asp19810Glu
XM_024453099.1:c.41193C>G (TTN) XP_024308867.1:p.Asp13731Glu
XM_024453100.1:c.31047C>G (TTN) XP_024308868.1:p.Asp10349Glu