Canonical Allele Identifier: CA349398480

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527099T>A , CM000664.2:g.178527099T>A GRCh38
NC_000002.11:g.179391826T>A , CM000664.1:g.179391826T>A GRCh37
NC_000002.10:g.179100072T>A NCBI36
NG_011618.3:g.308704A>T , LRG_391:g.308704A>T
NG_051363.1:g.9273T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100185A>T (TTN) ENSP00000343764.6:p.Lys33395Asn
ENST00000342175.11:c.81270A>T (TTN) ENSP00000340554.6:p.Lys27090Asn
ENST00000359218.10:c.81069A>T (TTN) ENSP00000352154.5:p.Lys27023Asn
ENST00000342175.10:c.81270A>T (TTN) ENSP00000340554.6:p.Lys27090Asn
ENST00000342992.10:c.100185A>T (TTN) ENSP00000343764.6:p.Lys33395Asn
ENST00000359218.9:c.81069A>T (TTN) ENSP00000352154.5:p.Lys27023Asn
ENST00000460472.6:c.80694A>T (TTN) ENSP00000434586.1:p.Lys26898Asn
ENST00000589042.5:c.107889A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35963Asn
ENST00000591111.5:c.102966A>T (TTN) ENSP00000465570.1:p.Lys34322Asn
ENST00000615779.4:c.102966A>T (TTN) ENSP00000483597.1:p.Lys34322Asn
NM_001256850.1:c.102966A>T (TTN) NP_001243779.1:p.Lys34322Asn
NM_001267550.2:c.107889A>T (TTN) MANE Select NP_001254479.2:p.Lys35963Asn
NM_003319.4:c.80694A>T (TTN) NP_003310.4:p.Lys26898Asn
NM_133378.4:c.100185A>T (TTN) NP_596869.4:p.Lys33395Asn
NM_133432.3:c.81069A>T (TTN) NP_597676.3:p.Lys27023Asn
NM_133437.4:c.81270A>T (TTN) NP_597681.4:p.Lys27090Asn
NR_038271.1:n.446+3463T>A (TTN-AS1)
NR_038272.1:n.219+3463T>A (TTN-AS1)
XM_011511729.1:c.106986A>T (TTN) XP_011510031.1:p.Lys35662Asn
XM_011511730.1:c.80880A>T (TTN) XP_011510032.1:p.Lys26960Asn
XM_011511731.1:c.80739A>T (TTN) XP_011510033.1:p.Lys26913Asn
XM_017004819.1:c.106782A>T (TTN) XP_016860308.1:p.Lys35594Asn
XM_017004820.1:c.102180A>T (TTN) XP_016860309.1:p.Lys34060Asn
XM_017004821.1:c.102177A>T (TTN) XP_016860310.1:p.Lys34059Asn
XM_017004822.1:c.99219A>T (TTN) XP_016860311.1:p.Lys33073Asn
XM_017004823.1:c.80835A>T (TTN) XP_016860312.1:p.Lys26945Asn
XM_024453094.1:c.102330A>T (TTN) XP_024308862.1:p.Lys34110Asn
XM_024453095.1:c.102327A>T (TTN) XP_024308863.1:p.Lys34109Asn
XM_024453096.1:c.101760A>T (TTN) XP_024308864.1:p.Lys33920Asn
XM_024453097.1:c.99102A>T (TTN) XP_024308865.1:p.Lys33034Asn
XM_024453098.1:c.99021A>T (TTN) XP_024308866.1:p.Lys33007Asn
XM_024453099.1:c.80784A>T (TTN) XP_024308867.1:p.Lys26928Asn
XM_024453100.1:c.70638A>T (TTN) XP_024308868.1:p.Lys23546Asn