Canonical Allele Identifier: CA430275809
Community Standard Title: NM_001267550.2(TTN):c.46092C>A (p.Gly15364=)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620429G>T , CM000664.2:g.178620429G>T GRCh38
NC_000002.11:g.179485156G>T , CM000664.1:g.179485156G>T GRCh37
NC_000002.10:g.179193401G>T NCBI36
NG_011618.3:g.215374C>A , LRG_391:g.215374C>A
NG_051363.1:g.102603G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46092C>A MANE Select NP_001254479.2:p.Gly15364=
ENST00000589042.5:c.46092C>A MANE Select ENSP00000467141.1:p.Gly15364=
NM_001256850.1:c.41169C>A NP_001243779.1:p.Gly13723=
NM_003319.4:c.18897C>A NP_003310.4:p.Gly6299=
NM_133378.4:c.38388C>A NP_596869.4:p.Gly12796=
NM_133432.3:c.19272C>A NP_597676.3:p.Gly6424=
NM_133437.4:c.19473C>A NP_597681.4:p.Gly6491=
ENST00000342175.10:c.19473C>A ENSP00000340554.6:p.Gly6491=
ENST00000342175.11:c.19473C>A ENSP00000340554.6:p.Gly6491=
ENST00000342992.10:c.38388C>A ENSP00000343764.6:p.Gly12796=
ENST00000342992.11:c.38388C>A ENSP00000343764.6:p.Gly12796=
ENST00000359218.10:c.19272C>A ENSP00000352154.5:p.Gly6424=
ENST00000359218.9:c.19272C>A ENSP00000352154.5:p.Gly6424=
ENST00000460472.6:c.18897C>A ENSP00000434586.1:p.Gly6299=
ENST00000591111.5:c.41169C>A ENSP00000465570.1:p.Gly13723=
ENST00000615779.4:c.41169C>A ENSP00000483597.1:p.Gly13723=
XM_011511729.1:c.45189C>A XP_011510031.1:p.Gly15063=
XM_011511730.1:c.19083C>A XP_011510032.1:p.Gly6361=
XM_011511731.1:c.18942C>A XP_011510033.1:p.Gly6314=
XM_017004819.1:c.44985C>A XP_016860308.1:p.Gly14995=
XM_017004820.1:c.40383C>A XP_016860309.1:p.Gly13461=
XM_017004821.1:c.40380C>A XP_016860310.1:p.Gly13460=
XM_017004822.1:c.37422C>A XP_016860311.1:p.Gly12474=
XM_017004823.1:c.19038C>A XP_016860312.1:p.Gly6346=
XM_024453094.1:c.40533C>A XP_024308862.1:p.Gly13511=
XM_024453095.1:c.40530C>A XP_024308863.1:p.Gly13510=
XM_024453096.1:c.39963C>A XP_024308864.1:p.Gly13321=
XM_024453097.1:c.37305C>A XP_024308865.1:p.Gly12435=
XM_024453098.1:c.37224C>A XP_024308866.1:p.Gly12408=
XM_024453099.1:c.18987C>A XP_024308867.1:p.Gly6329=
XM_024453100.1:c.8841C>A XP_024308868.1:p.Gly2947=