Canonical Allele Identifier: CA1991920
Community Standard Title: NM_001267550.2(TTN):c.64352T>A (p.Leu21451Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178586549A>T , CM000664.2:g.178586549A>T GRCh38
NC_000002.11:g.179451276A>T , CM000664.1:g.179451276A>T GRCh37
NC_000002.10:g.179159522A>T NCBI36
NG_011618.3:g.249254T>A , LRG_391:g.249254T>A
NG_051363.1:g.68723A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64352T>A (TTN) MANE Select NP_001254479.2:p.Leu21451Ter
ENST00000589042.5:c.64352T>A (TTN) MANE Select ENSP00000467141.1:p.Leu21451Ter
NM_001256850.1:c.59429T>A (TTN) NP_001243779.1:p.Leu19810Ter
NM_003319.4:c.37157T>A (TTN) NP_003310.4:p.Leu12386Ter
NM_133378.4:c.56648T>A (TTN) NP_596869.4:p.Leu18883Ter
NM_133432.3:c.37532T>A (TTN) NP_597676.3:p.Leu12511Ter
NM_133437.4:c.37733T>A (TTN) NP_597681.4:p.Leu12578Ter
NR_038271.1:n.597-11047A>T (TTN-AS1)
NR_038272.1:n.3188+1556A>T (TTN-AS1)
ENST00000342175.10:c.37733T>A (TTN) ENSP00000340554.6:p.Leu12578Ter
ENST00000342175.11:c.37733T>A (TTN) ENSP00000340554.6:p.Leu12578Ter
ENST00000342992.10:c.56648T>A (TTN) ENSP00000343764.6:p.Leu18883Ter
ENST00000342992.11:c.56648T>A (TTN) ENSP00000343764.6:p.Leu18883Ter
ENST00000359218.10:c.37532T>A (TTN) ENSP00000352154.5:p.Leu12511Ter
ENST00000359218.9:c.37532T>A (TTN) ENSP00000352154.5:p.Leu12511Ter
ENST00000460472.6:c.37157T>A (TTN) ENSP00000434586.1:p.Leu12386Ter
ENST00000591111.5:c.59429T>A (TTN) ENSP00000465570.1:p.Leu19810Ter
ENST00000615779.4:c.59429T>A (TTN) ENSP00000483597.1:p.Leu19810Ter
XM_011511729.1:c.63449T>A (TTN) XP_011510031.1:p.Leu21150Ter
XM_011511730.1:c.37343T>A (TTN) XP_011510032.1:p.Leu12448Ter
XM_011511731.1:c.37202T>A (TTN) XP_011510033.1:p.Leu12401Ter
XM_017004819.1:c.63245T>A (TTN) XP_016860308.1:p.Leu21082Ter
XM_017004820.1:c.58643T>A (TTN) XP_016860309.1:p.Leu19548Ter
XM_017004821.1:c.58640T>A (TTN) XP_016860310.1:p.Leu19547Ter
XM_017004822.1:c.55682T>A (TTN) XP_016860311.1:p.Leu18561Ter
XM_017004823.1:c.37298T>A (TTN) XP_016860312.1:p.Leu12433Ter
XM_024453094.1:c.58793T>A (TTN) XP_024308862.1:p.Leu19598Ter
XM_024453095.1:c.58790T>A (TTN) XP_024308863.1:p.Leu19597Ter
XM_024453096.1:c.58223T>A (TTN) XP_024308864.1:p.Leu19408Ter
XM_024453097.1:c.55565T>A (TTN) XP_024308865.1:p.Leu18522Ter
XM_024453098.1:c.55484T>A (TTN) XP_024308866.1:p.Leu18495Ter
XM_024453099.1:c.37247T>A (TTN) XP_024308867.1:p.Leu12416Ter
XM_024453100.1:c.27101T>A (TTN) XP_024308868.1:p.Leu9034Ter