Canonical Allele Identifier: CA430276141
Community Standard Title: NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178621151G>A , CM000664.2:g.178621151G>A GRCh38
NC_000002.11:g.179485878G>A , CM000664.1:g.179485878G>A GRCh37
NC_000002.10:g.179194123G>A NCBI36
NG_011618.3:g.214652C>T , LRG_391:g.214652C>T
NG_051363.1:g.103325G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.45567C>T MANE Select NP_001254479.2:p.Tyr15189=
ENST00000589042.5:c.45567C>T MANE Select ENSP00000467141.1:p.Tyr15189=
NM_001256850.1:c.40644C>T NP_001243779.1:p.Tyr13548=
NM_003319.4:c.18372C>T NP_003310.4:p.Tyr6124=
NM_133378.4:c.37863C>T NP_596869.4:p.Tyr12621=
NM_133432.3:c.18747C>T NP_597676.3:p.Tyr6249=
NM_133437.4:c.18948C>T NP_597681.4:p.Tyr6316=
ENST00000342175.10:c.18948C>T ENSP00000340554.6:p.Tyr6316=
ENST00000342175.11:c.18948C>T ENSP00000340554.6:p.Tyr6316=
ENST00000342992.10:c.37863C>T ENSP00000343764.6:p.Tyr12621=
ENST00000342992.11:c.37863C>T ENSP00000343764.6:p.Tyr12621=
ENST00000359218.10:c.18747C>T ENSP00000352154.5:p.Tyr6249=
ENST00000359218.9:c.18747C>T ENSP00000352154.5:p.Tyr6249=
ENST00000460472.6:c.18372C>T ENSP00000434586.1:p.Tyr6124=
ENST00000591111.5:c.40644C>T ENSP00000465570.1:p.Tyr13548=
ENST00000615779.4:c.40644C>T ENSP00000483597.1:p.Tyr13548=
XM_011511729.1:c.44664C>T XP_011510031.1:p.Tyr14888=
XM_011511730.1:c.18558C>T XP_011510032.1:p.Tyr6186=
XM_011511731.1:c.18417C>T XP_011510033.1:p.Tyr6139=
XM_017004819.1:c.44460C>T XP_016860308.1:p.Tyr14820=
XM_017004820.1:c.39858C>T XP_016860309.1:p.Tyr13286=
XM_017004821.1:c.39855C>T XP_016860310.1:p.Tyr13285=
XM_017004822.1:c.36897C>T XP_016860311.1:p.Tyr12299=
XM_017004823.1:c.18513C>T XP_016860312.1:p.Tyr6171=
XM_024453094.1:c.40008C>T XP_024308862.1:p.Tyr13336=
XM_024453095.1:c.40005C>T XP_024308863.1:p.Tyr13335=
XM_024453096.1:c.39438C>T XP_024308864.1:p.Tyr13146=
XM_024453097.1:c.36780C>T XP_024308865.1:p.Tyr12260=
XM_024453098.1:c.36699C>T XP_024308866.1:p.Tyr12233=
XM_024453099.1:c.18462C>T XP_024308867.1:p.Tyr6154=
XM_024453100.1:c.8316C>T XP_024308868.1:p.Tyr2772=