Canonical Allele Identifier: CA349436092

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57256C>T (TTN) ENSP00000343764.6:p.Gln19086Ter
ENST00000342175.11:c.38341C>T (TTN) ENSP00000340554.6:p.Gln12781Ter
ENST00000359218.10:c.38140C>T (TTN) ENSP00000352154.5:p.Gln12714Ter
ENST00000342175.10:c.38341C>T (TTN) ENSP00000340554.6:p.Gln12781Ter
ENST00000342992.10:c.57256C>T (TTN) ENSP00000343764.6:p.Gln19086Ter
ENST00000359218.9:c.38140C>T (TTN) ENSP00000352154.5:p.Gln12714Ter
ENST00000460472.6:c.37765C>T (TTN) ENSP00000434586.1:p.Gln12589Ter
ENST00000589042.5:c.64960C>T (TTN) MANE Select ENSP00000467141.1:p.Gln21654Ter
ENST00000591111.5:c.60037C>T (TTN) ENSP00000465570.1:p.Gln20013Ter
ENST00000615779.4:c.60037C>T (TTN) ENSP00000483597.1:p.Gln20013Ter
NM_001256850.1:c.60037C>T (TTN) NP_001243779.1:p.Gln20013Ter
NM_001267550.2:c.64960C>T (TTN) MANE Select NP_001254479.2:p.Gln21654Ter
NM_003319.4:c.37765C>T (TTN) NP_003310.4:p.Gln12589Ter
NM_133378.4:c.57256C>T (TTN) NP_596869.4:p.Gln19086Ter
NM_133432.3:c.38140C>T (TTN) NP_597676.3:p.Gln12714Ter
NM_133437.4:c.38341C>T (TTN) NP_597681.4:p.Gln12781Ter
NR_038271.1:n.597-12915G>A (TTN-AS1)
NR_038272.1:n.2876G>A (TTN-AS1)
XM_011511729.1:c.64057C>T (TTN) XP_011510031.1:p.Gln21353Ter
XM_011511730.1:c.37951C>T (TTN) XP_011510032.1:p.Gln12651Ter
XM_011511731.1:c.37810C>T (TTN) XP_011510033.1:p.Gln12604Ter
XM_017004819.1:c.63853C>T (TTN) XP_016860308.1:p.Gln21285Ter
XM_017004820.1:c.59251C>T (TTN) XP_016860309.1:p.Gln19751Ter
XM_017004821.1:c.59248C>T (TTN) XP_016860310.1:p.Gln19750Ter
XM_017004822.1:c.56290C>T (TTN) XP_016860311.1:p.Gln18764Ter
XM_017004823.1:c.37906C>T (TTN) XP_016860312.1:p.Gln12636Ter
XM_024453094.1:c.59401C>T (TTN) XP_024308862.1:p.Gln19801Ter
XM_024453095.1:c.59398C>T (TTN) XP_024308863.1:p.Gln19800Ter
XM_024453096.1:c.58831C>T (TTN) XP_024308864.1:p.Gln19611Ter
XM_024453097.1:c.56173C>T (TTN) XP_024308865.1:p.Gln18725Ter
XM_024453098.1:c.56092C>T (TTN) XP_024308866.1:p.Gln18698Ter
XM_024453099.1:c.37855C>T (TTN) XP_024308867.1:p.Gln12619Ter
XM_024453100.1:c.27709C>T (TTN) XP_024308868.1:p.Gln9237Ter