Canonical Allele Identifier: CA1995675
Community Standard Title: NM_001267550.2(TTN):c.44323G>A (p.Val14775Met)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178629402C>T , CM000664.2:g.178629402C>T GRCh38
NC_000002.11:g.179494129C>T , CM000664.1:g.179494129C>T GRCh37
NC_000002.10:g.179202374C>T NCBI36
NG_011618.3:g.206401G>A , LRG_391:g.206401G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.44323G>A MANE Select NP_001254479.2:p.Val14775Met
ENST00000589042.5:c.44323G>A MANE Select ENSP00000467141.1:p.Val14775Met
NM_001256850.1:c.39400G>A NP_001243779.1:p.Val13134Met
NM_003319.4:c.17128G>A NP_003310.4:p.Val5710Met
NM_133378.4:c.36619G>A NP_596869.4:p.Val12207Met
NM_133432.3:c.17503G>A NP_597676.3:p.Val5835Met
NM_133437.4:c.17704G>A NP_597681.4:p.Val5902Met
ENST00000342175.10:c.17704G>A ENSP00000340554.6:p.Val5902Met
ENST00000342175.11:c.17704G>A ENSP00000340554.6:p.Val5902Met
ENST00000342992.10:c.36619G>A ENSP00000343764.6:p.Val12207Met
ENST00000342992.11:c.36619G>A ENSP00000343764.6:p.Val12207Met
ENST00000359218.10:c.17503G>A ENSP00000352154.5:p.Val5835Met
ENST00000359218.9:c.17503G>A ENSP00000352154.5:p.Val5835Met
ENST00000460472.6:c.17128G>A ENSP00000434586.1:p.Val5710Met
ENST00000591111.5:c.39400G>A ENSP00000465570.1:p.Val13134Met
ENST00000615779.4:c.39400G>A ENSP00000483597.1:p.Val13134Met
XM_011511729.1:c.43420G>A XP_011510031.1:p.Val14474Met
XM_011511730.1:c.17314G>A XP_011510032.1:p.Val5772Met
XM_011511731.1:c.17173G>A XP_011510033.1:p.Val5725Met
XM_017004819.1:c.43216G>A XP_016860308.1:p.Val14406Met
XM_017004820.1:c.38614G>A XP_016860309.1:p.Val12872Met
XM_017004821.1:c.38611G>A XP_016860310.1:p.Val12871Met
XM_017004822.1:c.35653G>A XP_016860311.1:p.Val11885Met
XM_017004823.1:c.17269G>A XP_016860312.1:p.Val5757Met
XM_024453094.1:c.38764G>A XP_024308862.1:p.Val12922Met
XM_024453095.1:c.38761G>A XP_024308863.1:p.Val12921Met
XM_024453096.1:c.38194G>A XP_024308864.1:p.Val12732Met
XM_024453097.1:c.35536G>A XP_024308865.1:p.Val11846Met
XM_024453098.1:c.35455G>A XP_024308866.1:p.Val11819Met
XM_024453099.1:c.17218G>A XP_024308867.1:p.Val5740Met
XM_024453100.1:c.7072G>A XP_024308868.1:p.Val2358Met