Canonical Allele Identifier: CA60993040
Community Standard Title: NM_001267550.2(TTN):c.46272C>A (p.Tyr15424Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620249G>T , CM000664.2:g.178620249G>T GRCh38
NC_000002.11:g.179484976G>T , CM000664.1:g.179484976G>T GRCh37
NC_000002.10:g.179193221G>T NCBI36
NG_011618.3:g.215554C>A , LRG_391:g.215554C>A
NG_051363.1:g.102423G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46272C>A MANE Select NP_001254479.2:p.Tyr15424Ter
ENST00000589042.5:c.46272C>A MANE Select ENSP00000467141.1:p.Tyr15424Ter
NM_001256850.1:c.41349C>A NP_001243779.1:p.Tyr13783Ter
NM_003319.4:c.19077C>A NP_003310.4:p.Tyr6359Ter
NM_133378.4:c.38568C>A NP_596869.4:p.Tyr12856Ter
NM_133432.3:c.19452C>A NP_597676.3:p.Tyr6484Ter
NM_133437.4:c.19653C>A NP_597681.4:p.Tyr6551Ter
ENST00000342175.10:c.19653C>A ENSP00000340554.6:p.Tyr6551Ter
ENST00000342175.11:c.19653C>A ENSP00000340554.6:p.Tyr6551Ter
ENST00000342992.10:c.38568C>A ENSP00000343764.6:p.Tyr12856Ter
ENST00000342992.11:c.38568C>A ENSP00000343764.6:p.Tyr12856Ter
ENST00000359218.10:c.19452C>A ENSP00000352154.5:p.Tyr6484Ter
ENST00000359218.9:c.19452C>A ENSP00000352154.5:p.Tyr6484Ter
ENST00000460472.6:c.19077C>A ENSP00000434586.1:p.Tyr6359Ter
ENST00000591111.5:c.41349C>A ENSP00000465570.1:p.Tyr13783Ter
ENST00000615779.4:c.41349C>A ENSP00000483597.1:p.Tyr13783Ter
XM_011511729.1:c.45369C>A XP_011510031.1:p.Tyr15123Ter
XM_011511730.1:c.19263C>A XP_011510032.1:p.Tyr6421Ter
XM_011511731.1:c.19122C>A XP_011510033.1:p.Tyr6374Ter
XM_017004819.1:c.45165C>A XP_016860308.1:p.Tyr15055Ter
XM_017004820.1:c.40563C>A XP_016860309.1:p.Tyr13521Ter
XM_017004821.1:c.40560C>A XP_016860310.1:p.Tyr13520Ter
XM_017004822.1:c.37602C>A XP_016860311.1:p.Tyr12534Ter
XM_017004823.1:c.19218C>A XP_016860312.1:p.Tyr6406Ter
XM_024453094.1:c.40713C>A XP_024308862.1:p.Tyr13571Ter
XM_024453095.1:c.40710C>A XP_024308863.1:p.Tyr13570Ter
XM_024453096.1:c.40143C>A XP_024308864.1:p.Tyr13381Ter
XM_024453097.1:c.37485C>A XP_024308865.1:p.Tyr12495Ter
XM_024453098.1:c.37404C>A XP_024308866.1:p.Tyr12468Ter
XM_024453099.1:c.19167C>A XP_024308867.1:p.Tyr6389Ter
XM_024453100.1:c.9021C>A XP_024308868.1:p.Tyr3007Ter