Canonical Allele Identifier: CA349423563

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579672A>C , CM000664.2:g.178579672A>C GRCh38
NC_000002.11:g.179444399A>C , CM000664.1:g.179444399A>C GRCh37
NC_000002.10:g.179152645A>C NCBI36
NG_011618.3:g.256131T>G , LRG_391:g.256131T>G
NG_051363.1:g.61846A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.59821T>G (TTN) ENSP00000343764.6:p.Ser19941Ala
ENST00000342175.11:c.40906T>G (TTN) ENSP00000340554.6:p.Ser13636Ala
ENST00000359218.10:c.40705T>G (TTN) ENSP00000352154.5:p.Ser13569Ala
ENST00000342175.10:c.40906T>G (TTN) ENSP00000340554.6:p.Ser13636Ala
ENST00000342992.10:c.59821T>G (TTN) ENSP00000343764.6:p.Ser19941Ala
ENST00000359218.9:c.40705T>G (TTN) ENSP00000352154.5:p.Ser13569Ala
ENST00000460472.6:c.40330T>G (TTN) ENSP00000434586.1:p.Ser13444Ala
ENST00000589042.5:c.67525T>G (TTN) MANE Select ENSP00000467141.1:p.Ser22509Ala
ENST00000591111.5:c.62602T>G (TTN) ENSP00000465570.1:p.Ser20868Ala
ENST00000615779.4:c.62602T>G (TTN) ENSP00000483597.1:p.Ser20868Ala
NM_001256850.1:c.62602T>G (TTN) NP_001243779.1:p.Ser20868Ala
NM_001267550.2:c.67525T>G (TTN) MANE Select NP_001254479.2:p.Ser22509Ala
NM_003319.4:c.40330T>G (TTN) NP_003310.4:p.Ser13444Ala
NM_133378.4:c.59821T>G (TTN) NP_596869.4:p.Ser19941Ala
NM_133432.3:c.40705T>G (TTN) NP_597676.3:p.Ser13569Ala
NM_133437.4:c.40906T>G (TTN) NP_597681.4:p.Ser13636Ala
NR_038271.1:n.596+8223A>C (TTN-AS1)
NR_038272.1:n.2044-2900A>C (TTN-AS1)
XM_011511729.1:c.66622T>G (TTN) XP_011510031.1:p.Ser22208Ala
XM_011511730.1:c.40516T>G (TTN) XP_011510032.1:p.Ser13506Ala
XM_011511731.1:c.40375T>G (TTN) XP_011510033.1:p.Ser13459Ala
XM_017004819.1:c.66418T>G (TTN) XP_016860308.1:p.Ser22140Ala
XM_017004820.1:c.61816T>G (TTN) XP_016860309.1:p.Ser20606Ala
XM_017004821.1:c.61813T>G (TTN) XP_016860310.1:p.Ser20605Ala
XM_017004822.1:c.58855T>G (TTN) XP_016860311.1:p.Ser19619Ala
XM_017004823.1:c.40471T>G (TTN) XP_016860312.1:p.Ser13491Ala
XM_024453094.1:c.61966T>G (TTN) XP_024308862.1:p.Ser20656Ala
XM_024453095.1:c.61963T>G (TTN) XP_024308863.1:p.Ser20655Ala
XM_024453096.1:c.61396T>G (TTN) XP_024308864.1:p.Ser20466Ala
XM_024453097.1:c.58738T>G (TTN) XP_024308865.1:p.Ser19580Ala
XM_024453098.1:c.58657T>G (TTN) XP_024308866.1:p.Ser19553Ala
XM_024453099.1:c.40420T>G (TTN) XP_024308867.1:p.Ser13474Ala
XM_024453100.1:c.30274T>G (TTN) XP_024308868.1:p.Ser10092Ala