Canonical Allele Identifier: CA1310518130

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532222T= , CM000664.2:g.178532222T= GRCh38
NC_000002.11:g.179396949T= , CM000664.1:g.179396949T= GRCh37
NC_000002.10:g.179105195T= NCBI36
NG_011618.3:g.303581A= , LRG_391:g.303581A=
NG_051363.1:g.14396T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96689A= (TTN) ENSP00000343764.6:p.Lys32230=
ENST00000342175.11:c.77774A= (TTN) ENSP00000340554.6:p.Lys25925=
ENST00000359218.10:c.77573A= (TTN) ENSP00000352154.5:p.Lys25858=
ENST00000342175.10:c.77774A= (TTN) ENSP00000340554.6:p.Lys25925=
ENST00000342992.10:c.96689A= (TTN) ENSP00000343764.6:p.Lys32230=
ENST00000359218.9:c.77573A= (TTN) ENSP00000352154.5:p.Lys25858=
ENST00000460472.6:c.77198A= (TTN) ENSP00000434586.1:p.Lys25733=
ENST00000589042.5:c.104393A= (TTN) MANE Select ENSP00000467141.1:p.Lys34798=
ENST00000591111.5:c.99470A= (TTN) ENSP00000465570.1:p.Lys33157=
ENST00000615779.4:c.99470A= (TTN) ENSP00000483597.1:p.Lys33157=
NM_001256850.1:c.99470A= (TTN) NP_001243779.1:p.Lys33157=
NM_001267550.2:c.104393A= (TTN) MANE Select NP_001254479.2:p.Lys34798=
NM_003319.4:c.77198A= (TTN) NP_003310.4:p.Lys25733=
NM_133378.4:c.96689A= (TTN) NP_596869.4:p.Lys32230=
NM_133432.3:c.77573A= (TTN) NP_597676.3:p.Lys25858=
NM_133437.4:c.77774A= (TTN) NP_597681.4:p.Lys25925=
NR_038271.1:n.446+8586T= (TTN-AS1)
NR_038272.1:n.220-3510T= (TTN-AS1)
XM_011511729.1:c.103490A= (TTN) XP_011510031.1:p.Lys34497=
XM_011511730.1:c.77384A= (TTN) XP_011510032.1:p.Lys25795=
XM_011511731.1:c.77243A= (TTN) XP_011510033.1:p.Lys25748=
XM_017004819.1:c.103286A= (TTN) XP_016860308.1:p.Lys34429=
XM_017004820.1:c.98684A= (TTN) XP_016860309.1:p.Lys32895=
XM_017004821.1:c.98681A= (TTN) XP_016860310.1:p.Lys32894=
XM_017004822.1:c.95723A= (TTN) XP_016860311.1:p.Lys31908=
XM_017004823.1:c.77339A= (TTN) XP_016860312.1:p.Lys25780=
XM_024453094.1:c.98834A= (TTN) XP_024308862.1:p.Lys32945=
XM_024453095.1:c.98831A= (TTN) XP_024308863.1:p.Lys32944=
XM_024453096.1:c.98264A= (TTN) XP_024308864.1:p.Lys32755=
XM_024453097.1:c.95606A= (TTN) XP_024308865.1:p.Lys31869=
XM_024453098.1:c.95525A= (TTN) XP_024308866.1:p.Lys31842=
XM_024453099.1:c.77288A= (TTN) XP_024308867.1:p.Lys25763=
XM_024453100.1:c.67142A= (TTN) XP_024308868.1:p.Lys22381=