Canonical Allele Identifier: CA349411566

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532124A>C , CM000664.2:g.178532124A>C GRCh38
NC_000002.11:g.179396851A>C , CM000664.1:g.179396851A>C GRCh37
NC_000002.10:g.179105097A>C NCBI36
NG_011618.3:g.303679T>G , LRG_391:g.303679T>G
NG_051363.1:g.14298A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96787T>G (TTN) ENSP00000343764.6:p.Ser32263Ala
ENST00000342175.11:c.77872T>G (TTN) ENSP00000340554.6:p.Ser25958Ala
ENST00000359218.10:c.77671T>G (TTN) ENSP00000352154.5:p.Ser25891Ala
ENST00000342175.10:c.77872T>G (TTN) ENSP00000340554.6:p.Ser25958Ala
ENST00000342992.10:c.96787T>G (TTN) ENSP00000343764.6:p.Ser32263Ala
ENST00000359218.9:c.77671T>G (TTN) ENSP00000352154.5:p.Ser25891Ala
ENST00000460472.6:c.77296T>G (TTN) ENSP00000434586.1:p.Ser25766Ala
ENST00000589042.5:c.104491T>G (TTN) MANE Select ENSP00000467141.1:p.Ser34831Ala
ENST00000591111.5:c.99568T>G (TTN) ENSP00000465570.1:p.Ser33190Ala
ENST00000615779.4:c.99568T>G (TTN) ENSP00000483597.1:p.Ser33190Ala
NM_001256850.1:c.99568T>G (TTN) NP_001243779.1:p.Ser33190Ala
NM_001267550.2:c.104491T>G (TTN) MANE Select NP_001254479.2:p.Ser34831Ala
NM_003319.4:c.77296T>G (TTN) NP_003310.4:p.Ser25766Ala
NM_133378.4:c.96787T>G (TTN) NP_596869.4:p.Ser32263Ala
NM_133432.3:c.77671T>G (TTN) NP_597676.3:p.Ser25891Ala
NM_133437.4:c.77872T>G (TTN) NP_597681.4:p.Ser25958Ala
NR_038271.1:n.446+8488A>C (TTN-AS1)
NR_038272.1:n.220-3608A>C (TTN-AS1)
XM_011511729.1:c.103588T>G (TTN) XP_011510031.1:p.Ser34530Ala
XM_011511730.1:c.77482T>G (TTN) XP_011510032.1:p.Ser25828Ala
XM_011511731.1:c.77341T>G (TTN) XP_011510033.1:p.Ser25781Ala
XM_017004819.1:c.103384T>G (TTN) XP_016860308.1:p.Ser34462Ala
XM_017004820.1:c.98782T>G (TTN) XP_016860309.1:p.Ser32928Ala
XM_017004821.1:c.98779T>G (TTN) XP_016860310.1:p.Ser32927Ala
XM_017004822.1:c.95821T>G (TTN) XP_016860311.1:p.Ser31941Ala
XM_017004823.1:c.77437T>G (TTN) XP_016860312.1:p.Ser25813Ala
XM_024453094.1:c.98932T>G (TTN) XP_024308862.1:p.Ser32978Ala
XM_024453095.1:c.98929T>G (TTN) XP_024308863.1:p.Ser32977Ala
XM_024453096.1:c.98362T>G (TTN) XP_024308864.1:p.Ser32788Ala
XM_024453097.1:c.95704T>G (TTN) XP_024308865.1:p.Ser31902Ala
XM_024453098.1:c.95623T>G (TTN) XP_024308866.1:p.Ser31875Ala
XM_024453099.1:c.77386T>G (TTN) XP_024308867.1:p.Ser25796Ala
XM_024453100.1:c.67240T>G (TTN) XP_024308868.1:p.Ser22414Ala