Canonical Allele Identifier: CA349427920

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537630T>G , CM000664.2:g.178537630T>G GRCh38
NC_000002.11:g.179402357T>G , CM000664.1:g.179402357T>G GRCh37
NC_000002.10:g.179110603T>G NCBI36
NG_011618.3:g.298173A>C , LRG_391:g.298173A>C
NG_051363.1:g.19804T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.91873A>C (TTN) ENSP00000343764.6:p.Thr30625Pro
ENST00000342175.11:c.72958A>C (TTN) ENSP00000340554.6:p.Thr24320Pro
ENST00000359218.10:c.72757A>C (TTN) ENSP00000352154.5:p.Thr24253Pro
ENST00000342175.10:c.72958A>C (TTN) ENSP00000340554.6:p.Thr24320Pro
ENST00000342992.10:c.91873A>C (TTN) ENSP00000343764.6:p.Thr30625Pro
ENST00000359218.9:c.72757A>C (TTN) ENSP00000352154.5:p.Thr24253Pro
ENST00000460472.6:c.72382A>C (TTN) ENSP00000434586.1:p.Thr24128Pro
ENST00000589042.5:c.99577A>C (TTN) MANE Select ENSP00000467141.1:p.Thr33193Pro
ENST00000591111.5:c.94654A>C (TTN) ENSP00000465570.1:p.Thr31552Pro
ENST00000615779.4:c.94654A>C (TTN) ENSP00000483597.1:p.Thr31552Pro
NM_001256850.1:c.94654A>C (TTN) NP_001243779.1:p.Thr31552Pro
NM_001267550.2:c.99577A>C (TTN) MANE Select NP_001254479.2:p.Thr33193Pro
NM_003319.4:c.72382A>C (TTN) NP_003310.4:p.Thr24128Pro
NM_133378.4:c.91873A>C (TTN) NP_596869.4:p.Thr30625Pro
NM_133432.3:c.72757A>C (TTN) NP_597676.3:p.Thr24253Pro
NM_133437.4:c.72958A>C (TTN) NP_597681.4:p.Thr24320Pro
NR_038271.1:n.446+13994T>G (TTN-AS1)
NR_038272.1:n.586T>G (TTN-AS1)
XM_011511729.1:c.98674A>C (TTN) XP_011510031.1:p.Thr32892Pro
XM_011511730.1:c.72568A>C (TTN) XP_011510032.1:p.Thr24190Pro
XM_011511731.1:c.72427A>C (TTN) XP_011510033.1:p.Thr24143Pro
XM_017004819.1:c.98470A>C (TTN) XP_016860308.1:p.Thr32824Pro
XM_017004820.1:c.93868A>C (TTN) XP_016860309.1:p.Thr31290Pro
XM_017004821.1:c.93865A>C (TTN) XP_016860310.1:p.Thr31289Pro
XM_017004822.1:c.90907A>C (TTN) XP_016860311.1:p.Thr30303Pro
XM_017004823.1:c.72523A>C (TTN) XP_016860312.1:p.Thr24175Pro
XM_024453094.1:c.94018A>C (TTN) XP_024308862.1:p.Thr31340Pro
XM_024453095.1:c.94015A>C (TTN) XP_024308863.1:p.Thr31339Pro
XM_024453096.1:c.93448A>C (TTN) XP_024308864.1:p.Thr31150Pro
XM_024453097.1:c.90790A>C (TTN) XP_024308865.1:p.Thr30264Pro
XM_024453098.1:c.90709A>C (TTN) XP_024308866.1:p.Thr30237Pro
XM_024453099.1:c.72472A>C (TTN) XP_024308867.1:p.Thr24158Pro
XM_024453100.1:c.62326A>C (TTN) XP_024308868.1:p.Thr20776Pro