Canonical Allele Identifier: CA1310550961

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618210C= , CM000664.2:g.178618210C= GRCh38
NC_000002.11:g.179482937C= , CM000664.1:g.179482937C= GRCh37
NC_000002.10:g.179191182C= NCBI36
NG_011618.3:g.217593G= , LRG_391:g.217593G=
NG_051363.1:g.100384C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39544G= (TTN) ENSP00000343764.6:p.Val13182=
ENST00000342175.11:c.20629G= (TTN) ENSP00000340554.6:p.Val6877=
ENST00000359218.10:c.20428G= (TTN) ENSP00000352154.5:p.Val6810=
ENST00000342175.10:c.20629G= (TTN) ENSP00000340554.6:p.Val6877=
ENST00000342992.10:c.39544G= (TTN) ENSP00000343764.6:p.Val13182=
ENST00000359218.9:c.20428G= (TTN) ENSP00000352154.5:p.Val6810=
ENST00000460472.6:c.20053G= (TTN) ENSP00000434586.1:p.Val6685=
ENST00000589042.5:c.47248G= (TTN) MANE Select ENSP00000467141.1:p.Val15750=
ENST00000591111.5:c.42325G= (TTN) ENSP00000465570.1:p.Val14109=
ENST00000615779.4:c.42325G= (TTN) ENSP00000483597.1:p.Val14109=
NM_001256850.1:c.42325G= (TTN) NP_001243779.1:p.Val14109=
NM_001267550.2:c.47248G= (TTN) MANE Select NP_001254479.2:p.Val15750=
NM_003319.4:c.20053G= (TTN) NP_003310.4:p.Val6685=
NM_133378.4:c.39544G= (TTN) NP_596869.4:p.Val13182=
NM_133432.3:c.20428G= (TTN) NP_597676.3:p.Val6810=
NM_133437.4:c.20629G= (TTN) NP_597681.4:p.Val6877=
NR_038271.1:n.1605-1543C= (TTN-AS1)
XM_011511729.1:c.46345G= (TTN) XP_011510031.1:p.Val15449=
XM_011511730.1:c.20239G= (TTN) XP_011510032.1:p.Val6747=
XM_011511731.1:c.20098G= (TTN) XP_011510033.1:p.Val6700=
XM_017004819.1:c.46141G= (TTN) XP_016860308.1:p.Val15381=
XM_017004820.1:c.41539G= (TTN) XP_016860309.1:p.Val13847=
XM_017004821.1:c.41536G= (TTN) XP_016860310.1:p.Val13846=
XM_017004822.1:c.38578G= (TTN) XP_016860311.1:p.Val12860=
XM_017004823.1:c.20194G= (TTN) XP_016860312.1:p.Val6732=
XM_024453094.1:c.41689G= (TTN) XP_024308862.1:p.Val13897=
XM_024453095.1:c.41686G= (TTN) XP_024308863.1:p.Val13896=
XM_024453096.1:c.41119G= (TTN) XP_024308864.1:p.Val13707=
XM_024453097.1:c.38461G= (TTN) XP_024308865.1:p.Val12821=
XM_024453098.1:c.38380G= (TTN) XP_024308866.1:p.Val12794=
XM_024453099.1:c.20143G= (TTN) XP_024308867.1:p.Val6715=
XM_024453100.1:c.9997G= (TTN) XP_024308868.1:p.Val3333=