Canonical Allele Identifier: CA430270912

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178608200G>A , CM000664.2:g.178608200G>A GRCh38
NC_000002.11:g.179472927G>A , CM000664.1:g.179472927G>A GRCh37
NC_000002.10:g.179181172G>A NCBI36
NG_011618.3:g.227603C>T , LRG_391:g.227603C>T
NG_051363.1:g.90374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.44979C>T (TTN) ENSP00000343764.6:p.Pro14993=
ENST00000342175.11:c.26064C>T (TTN) ENSP00000340554.6:p.Pro8688=
ENST00000359218.10:c.25863C>T (TTN) ENSP00000352154.5:p.Pro8621=
ENST00000342175.10:c.26064C>T (TTN) ENSP00000340554.6:p.Pro8688=
ENST00000342992.10:c.44979C>T (TTN) ENSP00000343764.6:p.Pro14993=
ENST00000359218.9:c.25863C>T (TTN) ENSP00000352154.5:p.Pro8621=
ENST00000460472.6:c.25488C>T (TTN) ENSP00000434586.1:p.Pro8496=
ENST00000589042.5:c.52683C>T (TTN) MANE Select ENSP00000467141.1:p.Pro17561=
ENST00000591111.5:c.47760C>T (TTN) ENSP00000465570.1:p.Pro15920=
ENST00000615779.4:c.47760C>T (TTN) ENSP00000483597.1:p.Pro15920=
NM_001256850.1:c.47760C>T (TTN) NP_001243779.1:p.Pro15920=
NM_001267550.2:c.52683C>T (TTN) MANE Select NP_001254479.2:p.Pro17561=
NM_003319.4:c.25488C>T (TTN) NP_003310.4:p.Pro8496=
NM_133378.4:c.44979C>T (TTN) NP_596869.4:p.Pro14993=
NM_133432.3:c.25863C>T (TTN) NP_597676.3:p.Pro8621=
NM_133437.4:c.26064C>T (TTN) NP_597681.4:p.Pro8688=
NR_038271.1:n.716G>A (TTN-AS1)
XM_011511729.1:c.51780C>T (TTN) XP_011510031.1:p.Pro17260=
XM_011511730.1:c.25674C>T (TTN) XP_011510032.1:p.Pro8558=
XM_011511731.1:c.25533C>T (TTN) XP_011510033.1:p.Pro8511=
XM_017004819.1:c.51576C>T (TTN) XP_016860308.1:p.Pro17192=
XM_017004820.1:c.46974C>T (TTN) XP_016860309.1:p.Pro15658=
XM_017004821.1:c.46971C>T (TTN) XP_016860310.1:p.Pro15657=
XM_017004822.1:c.44013C>T (TTN) XP_016860311.1:p.Pro14671=
XM_017004823.1:c.25629C>T (TTN) XP_016860312.1:p.Pro8543=
XM_024453094.1:c.47124C>T (TTN) XP_024308862.1:p.Pro15708=
XM_024453095.1:c.47121C>T (TTN) XP_024308863.1:p.Pro15707=
XM_024453096.1:c.46554C>T (TTN) XP_024308864.1:p.Pro15518=
XM_024453097.1:c.43896C>T (TTN) XP_024308865.1:p.Pro14632=
XM_024453098.1:c.43815C>T (TTN) XP_024308866.1:p.Pro14605=
XM_024453099.1:c.25578C>T (TTN) XP_024308867.1:p.Pro8526=
XM_024453100.1:c.15432C>T (TTN) XP_024308868.1:p.Pro5144=