Canonical Allele Identifier: CA349405575

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530101C>A , CM000664.2:g.178530101C>A GRCh38
NC_000002.11:g.179394828C>A , CM000664.1:g.179394828C>A GRCh37
NC_000002.10:g.179103074C>A NCBI36
NG_011618.3:g.305702G>T , LRG_391:g.305702G>T
NG_051363.1:g.12275C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98686G>T (TTN) ENSP00000343764.6:p.Gly32896Cys
ENST00000342175.11:c.79771G>T (TTN) ENSP00000340554.6:p.Gly26591Cys
ENST00000359218.10:c.79570G>T (TTN) ENSP00000352154.5:p.Gly26524Cys
ENST00000342175.10:c.79771G>T (TTN) ENSP00000340554.6:p.Gly26591Cys
ENST00000342992.10:c.98686G>T (TTN) ENSP00000343764.6:p.Gly32896Cys
ENST00000359218.9:c.79570G>T (TTN) ENSP00000352154.5:p.Gly26524Cys
ENST00000460472.6:c.79195G>T (TTN) ENSP00000434586.1:p.Gly26399Cys
ENST00000589042.5:c.106390G>T (TTN) MANE Select ENSP00000467141.1:p.Gly35464Cys
ENST00000591111.5:c.101467G>T (TTN) ENSP00000465570.1:p.Gly33823Cys
ENST00000615779.4:c.101467G>T (TTN) ENSP00000483597.1:p.Gly33823Cys
NM_001256850.1:c.101467G>T (TTN) NP_001243779.1:p.Gly33823Cys
NM_001267550.2:c.106390G>T (TTN) MANE Select NP_001254479.2:p.Gly35464Cys
NM_003319.4:c.79195G>T (TTN) NP_003310.4:p.Gly26399Cys
NM_133378.4:c.98686G>T (TTN) NP_596869.4:p.Gly32896Cys
NM_133432.3:c.79570G>T (TTN) NP_597676.3:p.Gly26524Cys
NM_133437.4:c.79771G>T (TTN) NP_597681.4:p.Gly26591Cys
NR_038271.1:n.446+6465C>A (TTN-AS1)
NR_038272.1:n.220-5631C>A (TTN-AS1)
XM_011511729.1:c.105487G>T (TTN) XP_011510031.1:p.Gly35163Cys
XM_011511730.1:c.79381G>T (TTN) XP_011510032.1:p.Gly26461Cys
XM_011511731.1:c.79240G>T (TTN) XP_011510033.1:p.Gly26414Cys
XM_017004819.1:c.105283G>T (TTN) XP_016860308.1:p.Gly35095Cys
XM_017004820.1:c.100681G>T (TTN) XP_016860309.1:p.Gly33561Cys
XM_017004821.1:c.100678G>T (TTN) XP_016860310.1:p.Gly33560Cys
XM_017004822.1:c.97720G>T (TTN) XP_016860311.1:p.Gly32574Cys
XM_017004823.1:c.79336G>T (TTN) XP_016860312.1:p.Gly26446Cys
XM_024453094.1:c.100831G>T (TTN) XP_024308862.1:p.Gly33611Cys
XM_024453095.1:c.100828G>T (TTN) XP_024308863.1:p.Gly33610Cys
XM_024453096.1:c.100261G>T (TTN) XP_024308864.1:p.Gly33421Cys
XM_024453097.1:c.97603G>T (TTN) XP_024308865.1:p.Gly32535Cys
XM_024453098.1:c.97522G>T (TTN) XP_024308866.1:p.Gly32508Cys
XM_024453099.1:c.79285G>T (TTN) XP_024308867.1:p.Gly26429Cys
XM_024453100.1:c.69139G>T (TTN) XP_024308868.1:p.Gly23047Cys