Canonical Allele Identifier: CA349466303

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546219T>G , CM000664.2:g.178546219T>G GRCh38
NC_000002.11:g.179410946T>G , CM000664.1:g.179410946T>G GRCh37
NC_000002.10:g.179119192T>G NCBI36
NG_011618.3:g.289584A>C , LRG_391:g.289584A>C
NG_051363.1:g.28393T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87408A>C (TTN) ENSP00000343764.6:p.Lys29136Asn
ENST00000342175.11:c.68493A>C (TTN) ENSP00000340554.6:p.Lys22831Asn
ENST00000359218.10:c.68292A>C (TTN) ENSP00000352154.5:p.Lys22764Asn
ENST00000342175.10:c.68493A>C (TTN) ENSP00000340554.6:p.Lys22831Asn
ENST00000342992.10:c.87408A>C (TTN) ENSP00000343764.6:p.Lys29136Asn
ENST00000359218.9:c.68292A>C (TTN) ENSP00000352154.5:p.Lys22764Asn
ENST00000460472.6:c.67917A>C (TTN) ENSP00000434586.1:p.Lys22639Asn
ENST00000589042.5:c.95112A>C (TTN) MANE Select ENSP00000467141.1:p.Lys31704Asn
ENST00000591111.5:c.90189A>C (TTN) ENSP00000465570.1:p.Lys30063Asn
ENST00000615779.4:c.90189A>C (TTN) ENSP00000483597.1:p.Lys30063Asn
NM_001256850.1:c.90189A>C (TTN) NP_001243779.1:p.Lys30063Asn
NM_001267550.2:c.95112A>C (TTN) MANE Select NP_001254479.2:p.Lys31704Asn
NM_003319.4:c.67917A>C (TTN) NP_003310.4:p.Lys22639Asn
NM_133378.4:c.87408A>C (TTN) NP_596869.4:p.Lys29136Asn
NM_133432.3:c.68292A>C (TTN) NP_597676.3:p.Lys22764Asn
NM_133437.4:c.68493A>C (TTN) NP_597681.4:p.Lys22831Asn
NR_038271.1:n.446+22583T>G (TTN-AS1)
NR_038272.1:n.2043+3858T>G (TTN-AS1)
XM_011511729.1:c.94209A>C (TTN) XP_011510031.1:p.Lys31403Asn
XM_011511730.1:c.68103A>C (TTN) XP_011510032.1:p.Lys22701Asn
XM_011511731.1:c.67962A>C (TTN) XP_011510033.1:p.Lys22654Asn
XM_017004819.1:c.94005A>C (TTN) XP_016860308.1:p.Lys31335Asn
XM_017004820.1:c.89403A>C (TTN) XP_016860309.1:p.Lys29801Asn
XM_017004821.1:c.89400A>C (TTN) XP_016860310.1:p.Lys29800Asn
XM_017004822.1:c.86442A>C (TTN) XP_016860311.1:p.Lys28814Asn
XM_017004823.1:c.68058A>C (TTN) XP_016860312.1:p.Lys22686Asn
XM_024453094.1:c.89553A>C (TTN) XP_024308862.1:p.Lys29851Asn
XM_024453095.1:c.89550A>C (TTN) XP_024308863.1:p.Lys29850Asn
XM_024453096.1:c.88983A>C (TTN) XP_024308864.1:p.Lys29661Asn
XM_024453097.1:c.86325A>C (TTN) XP_024308865.1:p.Lys28775Asn
XM_024453098.1:c.86244A>C (TTN) XP_024308866.1:p.Lys28748Asn
XM_024453099.1:c.68007A>C (TTN) XP_024308867.1:p.Lys22669Asn
XM_024453100.1:c.57861A>C (TTN) XP_024308868.1:p.Lys19287Asn