Canonical Allele Identifier: CA1310549408

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614532T= , CM000664.2:g.178614532T= GRCh38
NC_000002.11:g.179479259T= , CM000664.1:g.179479259T= GRCh37
NC_000002.10:g.179187504T= NCBI36
NG_011618.3:g.221271A= , LRG_391:g.221271A=
NG_051363.1:g.96706T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41278A= (TTN) ENSP00000343764.6:p.Thr13760=
ENST00000342175.11:c.22363A= (TTN) ENSP00000340554.6:p.Thr7455=
ENST00000359218.10:c.22162A= (TTN) ENSP00000352154.5:p.Thr7388=
ENST00000342175.10:c.22363A= (TTN) ENSP00000340554.6:p.Thr7455=
ENST00000342992.10:c.41278A= (TTN) ENSP00000343764.6:p.Thr13760=
ENST00000359218.9:c.22162A= (TTN) ENSP00000352154.5:p.Thr7388=
ENST00000460472.6:c.21787A= (TTN) ENSP00000434586.1:p.Thr7263=
ENST00000589042.5:c.48982A= (TTN) MANE Select ENSP00000467141.1:p.Thr16328=
ENST00000591111.5:c.44059A= (TTN) ENSP00000465570.1:p.Thr14687=
ENST00000615779.4:c.44059A= (TTN) ENSP00000483597.1:p.Thr14687=
NM_001256850.1:c.44059A= (TTN) NP_001243779.1:p.Thr14687=
NM_001267550.2:c.48982A= (TTN) MANE Select NP_001254479.2:p.Thr16328=
NM_003319.4:c.21787A= (TTN) NP_003310.4:p.Thr7263=
NM_133378.4:c.41278A= (TTN) NP_596869.4:p.Thr13760=
NM_133432.3:c.22162A= (TTN) NP_597676.3:p.Thr7388=
NM_133437.4:c.22363A= (TTN) NP_597681.4:p.Thr7455=
NR_038271.1:n.1280T= (TTN-AS1)
XM_011511729.1:c.48079A= (TTN) XP_011510031.1:p.Thr16027=
XM_011511730.1:c.21973A= (TTN) XP_011510032.1:p.Thr7325=
XM_011511731.1:c.21832A= (TTN) XP_011510033.1:p.Thr7278=
XM_017004819.1:c.47875A= (TTN) XP_016860308.1:p.Thr15959=
XM_017004820.1:c.43273A= (TTN) XP_016860309.1:p.Thr14425=
XM_017004821.1:c.43270A= (TTN) XP_016860310.1:p.Thr14424=
XM_017004822.1:c.40312A= (TTN) XP_016860311.1:p.Thr13438=
XM_017004823.1:c.21928A= (TTN) XP_016860312.1:p.Thr7310=
XM_024453094.1:c.43423A= (TTN) XP_024308862.1:p.Thr14475=
XM_024453095.1:c.43420A= (TTN) XP_024308863.1:p.Thr14474=
XM_024453096.1:c.42853A= (TTN) XP_024308864.1:p.Thr14285=
XM_024453097.1:c.40195A= (TTN) XP_024308865.1:p.Thr13399=
XM_024453098.1:c.40114A= (TTN) XP_024308866.1:p.Thr13372=
XM_024453099.1:c.21877A= (TTN) XP_024308867.1:p.Thr7293=
XM_024453100.1:c.11731A= (TTN) XP_024308868.1:p.Thr3911=