Canonical Allele Identifier: CA10604156
Community Standard Title: NM_001267550.2(TTN):c.86601T>C (p.Asp28867=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559531A>G , CM000664.2:g.178559531A>G GRCh38
NC_000002.11:g.179424258A>G , CM000664.1:g.179424258A>G GRCh37
NC_000002.10:g.179132504A>G NCBI36
NG_011618.3:g.276272T>C , LRG_391:g.276272T>C
NG_051363.1:g.41705A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.86601T>C (TTN) MANE Select NP_001254479.2:p.Asp28867=
ENST00000589042.5:c.86601T>C (TTN) MANE Select ENSP00000467141.1:p.Asp28867=
NM_001256850.1:c.81678T>C (TTN) NP_001243779.1:p.Asp27226=
NM_003319.4:c.59406T>C (TTN) NP_003310.4:p.Asp19802=
NM_133378.4:c.78897T>C (TTN) NP_596869.4:p.Asp26299=
NM_133432.3:c.59781T>C (TTN) NP_597676.3:p.Asp19927=
NM_133437.4:c.59982T>C (TTN) NP_597681.4:p.Asp19994=
NR_038271.1:n.447-11769A>G (TTN-AS1)
NR_038272.1:n.2043+17170A>G (TTN-AS1)
ENST00000342175.10:c.59982T>C (TTN) ENSP00000340554.6:p.Asp19994=
ENST00000342175.11:c.59982T>C (TTN) ENSP00000340554.6:p.Asp19994=
ENST00000342992.10:c.78897T>C (TTN) ENSP00000343764.6:p.Asp26299=
ENST00000342992.11:c.78897T>C (TTN) ENSP00000343764.6:p.Asp26299=
ENST00000359218.10:c.59781T>C (TTN) ENSP00000352154.5:p.Asp19927=
ENST00000359218.9:c.59781T>C (TTN) ENSP00000352154.5:p.Asp19927=
ENST00000460472.6:c.59406T>C (TTN) ENSP00000434586.1:p.Asp19802=
ENST00000591111.5:c.81678T>C (TTN) ENSP00000465570.1:p.Asp27226=
ENST00000615779.4:c.81678T>C (TTN) ENSP00000483597.1:p.Asp27226=
XM_011511729.1:c.85698T>C (TTN) XP_011510031.1:p.Asp28566=
XM_011511730.1:c.59592T>C (TTN) XP_011510032.1:p.Asp19864=
XM_011511731.1:c.59451T>C (TTN) XP_011510033.1:p.Asp19817=
XM_017004819.1:c.85494T>C (TTN) XP_016860308.1:p.Asp28498=
XM_017004820.1:c.80892T>C (TTN) XP_016860309.1:p.Asp26964=
XM_017004821.1:c.80889T>C (TTN) XP_016860310.1:p.Asp26963=
XM_017004822.1:c.77931T>C (TTN) XP_016860311.1:p.Asp25977=
XM_017004823.1:c.59547T>C (TTN) XP_016860312.1:p.Asp19849=
XM_024453094.1:c.81042T>C (TTN) XP_024308862.1:p.Asp27014=
XM_024453095.1:c.81039T>C (TTN) XP_024308863.1:p.Asp27013=
XM_024453096.1:c.80472T>C (TTN) XP_024308864.1:p.Asp26824=
XM_024453097.1:c.77814T>C (TTN) XP_024308865.1:p.Asp25938=
XM_024453098.1:c.77733T>C (TTN) XP_024308866.1:p.Asp25911=
XM_024453099.1:c.59496T>C (TTN) XP_024308867.1:p.Asp19832=
XM_024453100.1:c.49350T>C (TTN) XP_024308868.1:p.Asp16450=