Canonical Allele Identifier: CA349541169

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601543T>C , CM000664.2:g.178601543T>C GRCh38
NC_000002.11:g.179466270T>C , CM000664.1:g.179466270T>C GRCh37
NC_000002.10:g.179174515T>C NCBI36
NG_011618.3:g.234260A>G , LRG_391:g.234260A>G
NG_051363.1:g.83717T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47750A>G (TTN) ENSP00000343764.6:p.Asp15917Gly
ENST00000342175.11:c.28835A>G (TTN) ENSP00000340554.6:p.Asp9612Gly
ENST00000359218.10:c.28634A>G (TTN) ENSP00000352154.5:p.Asp9545Gly
ENST00000342175.10:c.28835A>G (TTN) ENSP00000340554.6:p.Asp9612Gly
ENST00000342992.10:c.47750A>G (TTN) ENSP00000343764.6:p.Asp15917Gly
ENST00000359218.9:c.28634A>G (TTN) ENSP00000352154.5:p.Asp9545Gly
ENST00000460472.6:c.28259A>G (TTN) ENSP00000434586.1:p.Asp9420Gly
ENST00000589042.5:c.55454A>G (TTN) MANE Select ENSP00000467141.1:p.Asp18485Gly
ENST00000591111.5:c.50531A>G (TTN) ENSP00000465570.1:p.Asp16844Gly
ENST00000615779.4:c.50531A>G (TTN) ENSP00000483597.1:p.Asp16844Gly
NM_001256850.1:c.50531A>G (TTN) NP_001243779.1:p.Asp16844Gly
NM_001267550.2:c.55454A>G (TTN) MANE Select NP_001254479.2:p.Asp18485Gly
NM_003319.4:c.28259A>G (TTN) NP_003310.4:p.Asp9420Gly
NM_133378.4:c.47750A>G (TTN) NP_596869.4:p.Asp15917Gly
NM_133432.3:c.28634A>G (TTN) NP_597676.3:p.Asp9545Gly
NM_133437.4:c.28835A>G (TTN) NP_597681.4:p.Asp9612Gly
NR_038271.1:n.682+3862T>C (TTN-AS1)
NR_038272.1:n.3917+876T>C (TTN-AS1)
XM_011511729.1:c.54551A>G (TTN) XP_011510031.1:p.Asp18184Gly
XM_011511730.1:c.28445A>G (TTN) XP_011510032.1:p.Asp9482Gly
XM_011511731.1:c.28304A>G (TTN) XP_011510033.1:p.Asp9435Gly
XM_017004819.1:c.54347A>G (TTN) XP_016860308.1:p.Asp18116Gly
XM_017004820.1:c.49745A>G (TTN) XP_016860309.1:p.Asp16582Gly
XM_017004821.1:c.49742A>G (TTN) XP_016860310.1:p.Asp16581Gly
XM_017004822.1:c.46784A>G (TTN) XP_016860311.1:p.Asp15595Gly
XM_017004823.1:c.28400A>G (TTN) XP_016860312.1:p.Asp9467Gly
XM_024453094.1:c.49895A>G (TTN) XP_024308862.1:p.Asp16632Gly
XM_024453095.1:c.49892A>G (TTN) XP_024308863.1:p.Asp16631Gly
XM_024453096.1:c.49325A>G (TTN) XP_024308864.1:p.Asp16442Gly
XM_024453097.1:c.46667A>G (TTN) XP_024308865.1:p.Asp15556Gly
XM_024453098.1:c.46586A>G (TTN) XP_024308866.1:p.Asp15529Gly
XM_024453099.1:c.28349A>G (TTN) XP_024308867.1:p.Asp9450Gly
XM_024453100.1:c.18203A>G (TTN) XP_024308868.1:p.Asp6068Gly