Canonical Allele Identifier: CA430271776
Community Standard Title: NM_001267550.2(TTN):c.51633A>T (p.Gly17211=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609790T>A , CM000664.2:g.178609790T>A GRCh38
NC_000002.11:g.179474517T>A , CM000664.1:g.179474517T>A GRCh37
NC_000002.10:g.179182762T>A NCBI36
NG_011618.3:g.226013A>T , LRG_391:g.226013A>T
NG_051363.1:g.91964T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.51633A>T (TTN) MANE Select NP_001254479.2:p.Gly17211=
ENST00000589042.5:c.51633A>T (TTN) MANE Select ENSP00000467141.1:p.Gly17211=
NM_001256850.1:c.46710A>T (TTN) NP_001243779.1:p.Gly15570=
NM_003319.4:c.24438A>T (TTN) NP_003310.4:p.Gly8146=
NM_133378.4:c.43929A>T (TTN) NP_596869.4:p.Gly14643=
NM_133432.3:c.24813A>T (TTN) NP_597676.3:p.Gly8271=
NM_133437.4:c.25014A>T (TTN) NP_597681.4:p.Gly8338=
NR_038271.1:n.782+1524T>A (TTN-AS1)
ENST00000342175.10:c.25014A>T (TTN) ENSP00000340554.6:p.Gly8338=
ENST00000342175.11:c.25014A>T (TTN) ENSP00000340554.6:p.Gly8338=
ENST00000342992.10:c.43929A>T (TTN) ENSP00000343764.6:p.Gly14643=
ENST00000342992.11:c.43929A>T (TTN) ENSP00000343764.6:p.Gly14643=
ENST00000359218.10:c.24813A>T (TTN) ENSP00000352154.5:p.Gly8271=
ENST00000359218.9:c.24813A>T (TTN) ENSP00000352154.5:p.Gly8271=
ENST00000460472.6:c.24438A>T (TTN) ENSP00000434586.1:p.Gly8146=
ENST00000591111.5:c.46710A>T (TTN) ENSP00000465570.1:p.Gly15570=
ENST00000615779.4:c.46710A>T (TTN) ENSP00000483597.1:p.Gly15570=
XM_011511729.1:c.50730A>T (TTN) XP_011510031.1:p.Gly16910=
XM_011511730.1:c.24624A>T (TTN) XP_011510032.1:p.Gly8208=
XM_011511731.1:c.24483A>T (TTN) XP_011510033.1:p.Gly8161=
XM_017004819.1:c.50526A>T (TTN) XP_016860308.1:p.Gly16842=
XM_017004820.1:c.45924A>T (TTN) XP_016860309.1:p.Gly15308=
XM_017004821.1:c.45921A>T (TTN) XP_016860310.1:p.Gly15307=
XM_017004822.1:c.42963A>T (TTN) XP_016860311.1:p.Gly14321=
XM_017004823.1:c.24579A>T (TTN) XP_016860312.1:p.Gly8193=
XM_024453094.1:c.46074A>T (TTN) XP_024308862.1:p.Gly15358=
XM_024453095.1:c.46071A>T (TTN) XP_024308863.1:p.Gly15357=
XM_024453096.1:c.45504A>T (TTN) XP_024308864.1:p.Gly15168=
XM_024453097.1:c.42846A>T (TTN) XP_024308865.1:p.Gly14282=
XM_024453098.1:c.42765A>T (TTN) XP_024308866.1:p.Gly14255=
XM_024453099.1:c.24528A>T (TTN) XP_024308867.1:p.Gly8176=
XM_024453100.1:c.14382A>T (TTN) XP_024308868.1:p.Gly4794=