Canonical Allele Identifier: CA349453254
Community Standard Title: NM_001267550.2(TTN):c.63370C>T (p.Gln21124Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178588037G>A , CM000664.2:g.178588037G>A GRCh38
NC_000002.11:g.179452764G>A , CM000664.1:g.179452764G>A GRCh37
NC_000002.10:g.179161010G>A NCBI36
NG_011618.3:g.247766C>T , LRG_391:g.247766C>T
NG_051363.1:g.70211G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.63370C>T (TTN) MANE Select NP_001254479.2:p.Gln21124Ter
ENST00000589042.5:c.63370C>T (TTN) MANE Select ENSP00000467141.1:p.Gln21124Ter
NM_001256850.1:c.58447C>T (TTN) NP_001243779.1:p.Gln19483Ter
NM_003319.4:c.36175C>T (TTN) NP_003310.4:p.Gln12059Ter
NM_133378.4:c.55666C>T (TTN) NP_596869.4:p.Gln18556Ter
NM_133432.3:c.36550C>T (TTN) NP_597676.3:p.Gln12184Ter
NM_133437.4:c.36751C>T (TTN) NP_597681.4:p.Gln12251Ter
NR_038271.1:n.597-9559G>A (TTN-AS1)
NR_038272.1:n.3188+3044G>A (TTN-AS1)
ENST00000342175.10:c.36751C>T (TTN) ENSP00000340554.6:p.Gln12251Ter
ENST00000342175.11:c.36751C>T (TTN) ENSP00000340554.6:p.Gln12251Ter
ENST00000342992.10:c.55666C>T (TTN) ENSP00000343764.6:p.Gln18556Ter
ENST00000342992.11:c.55666C>T (TTN) ENSP00000343764.6:p.Gln18556Ter
ENST00000359218.10:c.36550C>T (TTN) ENSP00000352154.5:p.Gln12184Ter
ENST00000359218.9:c.36550C>T (TTN) ENSP00000352154.5:p.Gln12184Ter
ENST00000460472.6:c.36175C>T (TTN) ENSP00000434586.1:p.Gln12059Ter
ENST00000591111.5:c.58447C>T (TTN) ENSP00000465570.1:p.Gln19483Ter
ENST00000615779.4:c.58447C>T (TTN) ENSP00000483597.1:p.Gln19483Ter
XM_011511729.1:c.62467C>T (TTN) XP_011510031.1:p.Gln20823Ter
XM_011511730.1:c.36361C>T (TTN) XP_011510032.1:p.Gln12121Ter
XM_011511731.1:c.36220C>T (TTN) XP_011510033.1:p.Gln12074Ter
XM_017004819.1:c.62263C>T (TTN) XP_016860308.1:p.Gln20755Ter
XM_017004820.1:c.57661C>T (TTN) XP_016860309.1:p.Gln19221Ter
XM_017004821.1:c.57658C>T (TTN) XP_016860310.1:p.Gln19220Ter
XM_017004822.1:c.54700C>T (TTN) XP_016860311.1:p.Gln18234Ter
XM_017004823.1:c.36316C>T (TTN) XP_016860312.1:p.Gln12106Ter
XM_024453094.1:c.57811C>T (TTN) XP_024308862.1:p.Gln19271Ter
XM_024453095.1:c.57808C>T (TTN) XP_024308863.1:p.Gln19270Ter
XM_024453096.1:c.57241C>T (TTN) XP_024308864.1:p.Gln19081Ter
XM_024453097.1:c.54583C>T (TTN) XP_024308865.1:p.Gln18195Ter
XM_024453098.1:c.54502C>T (TTN) XP_024308866.1:p.Gln18168Ter
XM_024453099.1:c.36265C>T (TTN) XP_024308867.1:p.Gln12089Ter
XM_024453100.1:c.26119C>T (TTN) XP_024308868.1:p.Gln8707Ter