Canonical Allele Identifier: CA349490052

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548760T>G , CM000664.2:g.178548760T>G GRCh38
NC_000002.11:g.179413487T>G , CM000664.1:g.179413487T>G GRCh37
NC_000002.10:g.179121733T>G NCBI36
NG_011618.3:g.287043A>C , LRG_391:g.287043A>C
NG_051363.1:g.30934T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85162A>C (TTN) ENSP00000343764.6:p.Thr28388Pro
ENST00000342175.11:c.66247A>C (TTN) ENSP00000340554.6:p.Thr22083Pro
ENST00000359218.10:c.66046A>C (TTN) ENSP00000352154.5:p.Thr22016Pro
ENST00000342175.10:c.66247A>C (TTN) ENSP00000340554.6:p.Thr22083Pro
ENST00000342992.10:c.85162A>C (TTN) ENSP00000343764.6:p.Thr28388Pro
ENST00000359218.9:c.66046A>C (TTN) ENSP00000352154.5:p.Thr22016Pro
ENST00000460472.6:c.65671A>C (TTN) ENSP00000434586.1:p.Thr21891Pro
ENST00000589042.5:c.92866A>C (TTN) MANE Select ENSP00000467141.1:p.Thr30956Pro
ENST00000591111.5:c.87943A>C (TTN) ENSP00000465570.1:p.Thr29315Pro
ENST00000615779.4:c.87943A>C (TTN) ENSP00000483597.1:p.Thr29315Pro
NM_001256850.1:c.87943A>C (TTN) NP_001243779.1:p.Thr29315Pro
NM_001267550.2:c.92866A>C (TTN) MANE Select NP_001254479.2:p.Thr30956Pro
NM_003319.4:c.65671A>C (TTN) NP_003310.4:p.Thr21891Pro
NM_133378.4:c.85162A>C (TTN) NP_596869.4:p.Thr28388Pro
NM_133432.3:c.66046A>C (TTN) NP_597676.3:p.Thr22016Pro
NM_133437.4:c.66247A>C (TTN) NP_597681.4:p.Thr22083Pro
NR_038271.1:n.447-22540T>G (TTN-AS1)
NR_038272.1:n.2043+6399T>G (TTN-AS1)
XM_011511729.1:c.91963A>C (TTN) XP_011510031.1:p.Thr30655Pro
XM_011511730.1:c.65857A>C (TTN) XP_011510032.1:p.Thr21953Pro
XM_011511731.1:c.65716A>C (TTN) XP_011510033.1:p.Thr21906Pro
XM_017004819.1:c.91759A>C (TTN) XP_016860308.1:p.Thr30587Pro
XM_017004820.1:c.87157A>C (TTN) XP_016860309.1:p.Thr29053Pro
XM_017004821.1:c.87154A>C (TTN) XP_016860310.1:p.Thr29052Pro
XM_017004822.1:c.84196A>C (TTN) XP_016860311.1:p.Thr28066Pro
XM_017004823.1:c.65812A>C (TTN) XP_016860312.1:p.Thr21938Pro
XM_024453094.1:c.87307A>C (TTN) XP_024308862.1:p.Thr29103Pro
XM_024453095.1:c.87304A>C (TTN) XP_024308863.1:p.Thr29102Pro
XM_024453096.1:c.86737A>C (TTN) XP_024308864.1:p.Thr28913Pro
XM_024453097.1:c.84079A>C (TTN) XP_024308865.1:p.Thr28027Pro
XM_024453098.1:c.83998A>C (TTN) XP_024308866.1:p.Thr28000Pro
XM_024453099.1:c.65761A>C (TTN) XP_024308867.1:p.Thr21921Pro
XM_024453100.1:c.55615A>C (TTN) XP_024308868.1:p.Thr18539Pro