Canonical Allele Identifier: CA1995628
Community Standard Title: NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178625329C>T , CM000664.2:g.178625329C>T GRCh38
NC_000002.11:g.179490056C>T , CM000664.1:g.179490056C>T GRCh37
NC_000002.10:g.179198301C>T NCBI36
NG_011618.3:g.210474G>A , LRG_391:g.210474G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.44492G>A MANE Select NP_001254479.2:p.Gly14831Glu
ENST00000589042.5:c.44492G>A MANE Select ENSP00000467141.1:p.Gly14831Glu
NM_001256850.1:c.39569G>A NP_001243779.1:p.Gly13190Glu
NM_003319.4:c.17297G>A NP_003310.4:p.Gly5766Glu
NM_133378.4:c.36788G>A NP_596869.4:p.Gly12263Glu
NM_133432.3:c.17672G>A NP_597676.3:p.Gly5891Glu
NM_133437.4:c.17873G>A NP_597681.4:p.Gly5958Glu
ENST00000342175.10:c.17873G>A ENSP00000340554.6:p.Gly5958Glu
ENST00000342175.11:c.17873G>A ENSP00000340554.6:p.Gly5958Glu
ENST00000342992.10:c.36788G>A ENSP00000343764.6:p.Gly12263Glu
ENST00000342992.11:c.36788G>A ENSP00000343764.6:p.Gly12263Glu
ENST00000359218.10:c.17672G>A ENSP00000352154.5:p.Gly5891Glu
ENST00000359218.9:c.17672G>A ENSP00000352154.5:p.Gly5891Glu
ENST00000460472.6:c.17297G>A ENSP00000434586.1:p.Gly5766Glu
ENST00000591111.5:c.39569G>A ENSP00000465570.1:p.Gly13190Glu
ENST00000615779.4:c.39569G>A ENSP00000483597.1:p.Gly13190Glu
XM_011511729.1:c.43589G>A XP_011510031.1:p.Gly14530Glu
XM_011511730.1:c.17483G>A XP_011510032.1:p.Gly5828Glu
XM_011511731.1:c.17342G>A XP_011510033.1:p.Gly5781Glu
XM_017004819.1:c.43385G>A XP_016860308.1:p.Gly14462Glu
XM_017004820.1:c.38783G>A XP_016860309.1:p.Gly12928Glu
XM_017004821.1:c.38780G>A XP_016860310.1:p.Gly12927Glu
XM_017004822.1:c.35822G>A XP_016860311.1:p.Gly11941Glu
XM_017004823.1:c.17438G>A XP_016860312.1:p.Gly5813Glu
XM_024453094.1:c.38933G>A XP_024308862.1:p.Gly12978Glu
XM_024453095.1:c.38930G>A XP_024308863.1:p.Gly12977Glu
XM_024453096.1:c.38363G>A XP_024308864.1:p.Gly12788Glu
XM_024453097.1:c.35705G>A XP_024308865.1:p.Gly11902Glu
XM_024453098.1:c.35624G>A XP_024308866.1:p.Gly11875Glu
XM_024453099.1:c.17387G>A XP_024308867.1:p.Gly5796Glu
XM_024453100.1:c.7241G>A XP_024308868.1:p.Gly2414Glu