Canonical Allele Identifier: CA349436089

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584681G>T , CM000664.2:g.178584681G>T GRCh38
NC_000002.11:g.179449408G>T , CM000664.1:g.179449408G>T GRCh37
NC_000002.10:g.179157654G>T NCBI36
NG_011618.3:g.251122C>A , LRG_391:g.251122C>A
NG_051363.1:g.66855G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57256C>A (TTN) ENSP00000343764.6:p.Gln19086Lys
ENST00000342175.11:c.38341C>A (TTN) ENSP00000340554.6:p.Gln12781Lys
ENST00000359218.10:c.38140C>A (TTN) ENSP00000352154.5:p.Gln12714Lys
ENST00000342175.10:c.38341C>A (TTN) ENSP00000340554.6:p.Gln12781Lys
ENST00000342992.10:c.57256C>A (TTN) ENSP00000343764.6:p.Gln19086Lys
ENST00000359218.9:c.38140C>A (TTN) ENSP00000352154.5:p.Gln12714Lys
ENST00000460472.6:c.37765C>A (TTN) ENSP00000434586.1:p.Gln12589Lys
ENST00000589042.5:c.64960C>A (TTN) MANE Select ENSP00000467141.1:p.Gln21654Lys
ENST00000591111.5:c.60037C>A (TTN) ENSP00000465570.1:p.Gln20013Lys
ENST00000615779.4:c.60037C>A (TTN) ENSP00000483597.1:p.Gln20013Lys
NM_001256850.1:c.60037C>A (TTN) NP_001243779.1:p.Gln20013Lys
NM_001267550.2:c.64960C>A (TTN) MANE Select NP_001254479.2:p.Gln21654Lys
NM_003319.4:c.37765C>A (TTN) NP_003310.4:p.Gln12589Lys
NM_133378.4:c.57256C>A (TTN) NP_596869.4:p.Gln19086Lys
NM_133432.3:c.38140C>A (TTN) NP_597676.3:p.Gln12714Lys
NM_133437.4:c.38341C>A (TTN) NP_597681.4:p.Gln12781Lys
NR_038271.1:n.597-12915G>T (TTN-AS1)
NR_038272.1:n.2876G>T (TTN-AS1)
XM_011511729.1:c.64057C>A (TTN) XP_011510031.1:p.Gln21353Lys
XM_011511730.1:c.37951C>A (TTN) XP_011510032.1:p.Gln12651Lys
XM_011511731.1:c.37810C>A (TTN) XP_011510033.1:p.Gln12604Lys
XM_017004819.1:c.63853C>A (TTN) XP_016860308.1:p.Gln21285Lys
XM_017004820.1:c.59251C>A (TTN) XP_016860309.1:p.Gln19751Lys
XM_017004821.1:c.59248C>A (TTN) XP_016860310.1:p.Gln19750Lys
XM_017004822.1:c.56290C>A (TTN) XP_016860311.1:p.Gln18764Lys
XM_017004823.1:c.37906C>A (TTN) XP_016860312.1:p.Gln12636Lys
XM_024453094.1:c.59401C>A (TTN) XP_024308862.1:p.Gln19801Lys
XM_024453095.1:c.59398C>A (TTN) XP_024308863.1:p.Gln19800Lys
XM_024453096.1:c.58831C>A (TTN) XP_024308864.1:p.Gln19611Lys
XM_024453097.1:c.56173C>A (TTN) XP_024308865.1:p.Gln18725Lys
XM_024453098.1:c.56092C>A (TTN) XP_024308866.1:p.Gln18698Lys
XM_024453099.1:c.37855C>A (TTN) XP_024308867.1:p.Gln12619Lys
XM_024453100.1:c.27709C>A (TTN) XP_024308868.1:p.Gln9237Lys