Canonical Allele Identifier: CA1995369
Community Standard Title: NM_001267550.2(TTN):c.45786C>T (p.Tyr15262=)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620824G>A , CM000664.2:g.178620824G>A GRCh38
NC_000002.11:g.179485551G>A , CM000664.1:g.179485551G>A GRCh37
NC_000002.10:g.179193796G>A NCBI36
NG_011618.3:g.214979C>T , LRG_391:g.214979C>T
NG_051363.1:g.102998G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.45786C>T MANE Select NP_001254479.2:p.Tyr15262=
ENST00000589042.5:c.45786C>T MANE Select ENSP00000467141.1:p.Tyr15262=
NM_001256850.1:c.40863C>T NP_001243779.1:p.Tyr13621=
NM_003319.4:c.18591C>T NP_003310.4:p.Tyr6197=
NM_133378.4:c.38082C>T NP_596869.4:p.Tyr12694=
NM_133432.3:c.18966C>T NP_597676.3:p.Tyr6322=
NM_133437.4:c.19167C>T NP_597681.4:p.Tyr6389=
ENST00000342175.10:c.19167C>T ENSP00000340554.6:p.Tyr6389=
ENST00000342175.11:c.19167C>T ENSP00000340554.6:p.Tyr6389=
ENST00000342992.10:c.38082C>T ENSP00000343764.6:p.Tyr12694=
ENST00000342992.11:c.38082C>T ENSP00000343764.6:p.Tyr12694=
ENST00000359218.10:c.18966C>T ENSP00000352154.5:p.Tyr6322=
ENST00000359218.9:c.18966C>T ENSP00000352154.5:p.Tyr6322=
ENST00000460472.6:c.18591C>T ENSP00000434586.1:p.Tyr6197=
ENST00000591111.5:c.40863C>T ENSP00000465570.1:p.Tyr13621=
ENST00000615779.4:c.40863C>T ENSP00000483597.1:p.Tyr13621=
XM_011511729.1:c.44883C>T XP_011510031.1:p.Tyr14961=
XM_011511730.1:c.18777C>T XP_011510032.1:p.Tyr6259=
XM_011511731.1:c.18636C>T XP_011510033.1:p.Tyr6212=
XM_017004819.1:c.44679C>T XP_016860308.1:p.Tyr14893=
XM_017004820.1:c.40077C>T XP_016860309.1:p.Tyr13359=
XM_017004821.1:c.40074C>T XP_016860310.1:p.Tyr13358=
XM_017004822.1:c.37116C>T XP_016860311.1:p.Tyr12372=
XM_017004823.1:c.18732C>T XP_016860312.1:p.Tyr6244=
XM_024453094.1:c.40227C>T XP_024308862.1:p.Tyr13409=
XM_024453095.1:c.40224C>T XP_024308863.1:p.Tyr13408=
XM_024453096.1:c.39657C>T XP_024308864.1:p.Tyr13219=
XM_024453097.1:c.36999C>T XP_024308865.1:p.Tyr12333=
XM_024453098.1:c.36918C>T XP_024308866.1:p.Tyr12306=
XM_024453099.1:c.18681C>T XP_024308867.1:p.Tyr6227=
XM_024453100.1:c.8535C>T XP_024308868.1:p.Tyr2845=