Canonical Allele Identifier: CA1310521127

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543856T= , CM000664.2:g.178543856T= GRCh38
NC_000002.11:g.179408583T= , CM000664.1:g.179408583T= GRCh37
NC_000002.10:g.179116829T= NCBI36
NG_011618.3:g.291947A= , LRG_391:g.291947A=
NG_051363.1:g.26030T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88584A= (TTN) ENSP00000343764.6:p.Ala29528=
ENST00000342175.11:c.69669A= (TTN) ENSP00000340554.6:p.Ala23223=
ENST00000359218.10:c.69468A= (TTN) ENSP00000352154.5:p.Ala23156=
ENST00000342175.10:c.69669A= (TTN) ENSP00000340554.6:p.Ala23223=
ENST00000342992.10:c.88584A= (TTN) ENSP00000343764.6:p.Ala29528=
ENST00000359218.9:c.69468A= (TTN) ENSP00000352154.5:p.Ala23156=
ENST00000460472.6:c.69093A= (TTN) ENSP00000434586.1:p.Ala23031=
ENST00000589042.5:c.96288A= (TTN) MANE Select ENSP00000467141.1:p.Ala32096=
ENST00000591111.5:c.91365A= (TTN) ENSP00000465570.1:p.Ala30455=
ENST00000615779.4:c.91365A= (TTN) ENSP00000483597.1:p.Ala30455=
NM_001256850.1:c.91365A= (TTN) NP_001243779.1:p.Ala30455=
NM_001267550.2:c.96288A= (TTN) MANE Select NP_001254479.2:p.Ala32096=
NM_003319.4:c.69093A= (TTN) NP_003310.4:p.Ala23031=
NM_133378.4:c.88584A= (TTN) NP_596869.4:p.Ala29528=
NM_133432.3:c.69468A= (TTN) NP_597676.3:p.Ala23156=
NM_133437.4:c.69669A= (TTN) NP_597681.4:p.Ala23223=
NR_038271.1:n.446+20220T= (TTN-AS1)
NR_038272.1:n.2043+1495T= (TTN-AS1)
XM_011511729.1:c.95385A= (TTN) XP_011510031.1:p.Ala31795=
XM_011511730.1:c.69279A= (TTN) XP_011510032.1:p.Ala23093=
XM_011511731.1:c.69138A= (TTN) XP_011510033.1:p.Ala23046=
XM_017004819.1:c.95181A= (TTN) XP_016860308.1:p.Ala31727=
XM_017004820.1:c.90579A= (TTN) XP_016860309.1:p.Ala30193=
XM_017004821.1:c.90576A= (TTN) XP_016860310.1:p.Ala30192=
XM_017004822.1:c.87618A= (TTN) XP_016860311.1:p.Ala29206=
XM_017004823.1:c.69234A= (TTN) XP_016860312.1:p.Ala23078=
XM_024453094.1:c.90729A= (TTN) XP_024308862.1:p.Ala30243=
XM_024453095.1:c.90726A= (TTN) XP_024308863.1:p.Ala30242=
XM_024453096.1:c.90159A= (TTN) XP_024308864.1:p.Ala30053=
XM_024453097.1:c.87501A= (TTN) XP_024308865.1:p.Ala29167=
XM_024453098.1:c.87420A= (TTN) XP_024308866.1:p.Ala29140=
XM_024453099.1:c.69183A= (TTN) XP_024308867.1:p.Ala23061=
XM_024453100.1:c.59037A= (TTN) XP_024308868.1:p.Ala19679=