Canonical Allele Identifier: CA349653424
Community Standard Title: NM_001267550.2(TTN):c.42897T>A (p.Tyr14299Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178633462A>T , CM000664.2:g.178633462A>T GRCh38
NC_000002.11:g.179498189A>T , CM000664.1:g.179498189A>T GRCh37
NC_000002.10:g.179206434A>T NCBI36
NG_011618.3:g.202341T>A , LRG_391:g.202341T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42897T>A MANE Select NP_001254479.2:p.Tyr14299Ter
ENST00000589042.5:c.42897T>A MANE Select ENSP00000467141.1:p.Tyr14299Ter
NM_001256850.1:c.37974T>A NP_001243779.1:p.Tyr12658Ter
NM_003319.4:c.15702T>A NP_003310.4:p.Tyr5234Ter
NM_133378.4:c.35193T>A NP_596869.4:p.Tyr11731Ter
NM_133432.3:c.16077T>A NP_597676.3:p.Tyr5359Ter
NM_133437.4:c.16278T>A NP_597681.4:p.Tyr5426Ter
ENST00000342175.10:c.16278T>A ENSP00000340554.6:p.Tyr5426Ter
ENST00000342175.11:c.16278T>A ENSP00000340554.6:p.Tyr5426Ter
ENST00000342992.10:c.35193T>A ENSP00000343764.6:p.Tyr11731Ter
ENST00000342992.11:c.35193T>A ENSP00000343764.6:p.Tyr11731Ter
ENST00000359218.10:c.16077T>A ENSP00000352154.5:p.Tyr5359Ter
ENST00000359218.9:c.16077T>A ENSP00000352154.5:p.Tyr5359Ter
ENST00000460472.6:c.15702T>A ENSP00000434586.1:p.Tyr5234Ter
ENST00000591111.5:c.37974T>A ENSP00000465570.1:p.Tyr12658Ter
ENST00000615779.4:c.37974T>A ENSP00000483597.1:p.Tyr12658Ter
XM_011511729.1:c.41994T>A XP_011510031.1:p.Tyr13998Ter
XM_011511730.1:c.15888T>A XP_011510032.1:p.Tyr5296Ter
XM_011511731.1:c.15747T>A XP_011510033.1:p.Tyr5249Ter
XM_017004819.1:c.41790T>A XP_016860308.1:p.Tyr13930Ter
XM_017004820.1:c.37188T>A XP_016860309.1:p.Tyr12396Ter
XM_017004821.1:c.37185T>A XP_016860310.1:p.Tyr12395Ter
XM_017004822.1:c.34227T>A XP_016860311.1:p.Tyr11409Ter
XM_017004823.1:c.15843T>A XP_016860312.1:p.Tyr5281Ter
XM_024453094.1:c.37338T>A XP_024308862.1:p.Tyr12446Ter
XM_024453095.1:c.37335T>A XP_024308863.1:p.Tyr12445Ter
XM_024453096.1:c.36768T>A XP_024308864.1:p.Tyr12256Ter
XM_024453097.1:c.34110T>A XP_024308865.1:p.Tyr11370Ter
XM_024453098.1:c.34029T>A XP_024308866.1:p.Tyr11343Ter
XM_024453099.1:c.15792T>A XP_024308867.1:p.Tyr5264Ter
XM_024453100.1:c.5646T>A XP_024308868.1:p.Tyr1882Ter