Canonical Allele Identifier: CA349434898

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178540075T>A , CM000664.2:g.178540075T>A GRCh38
NC_000002.11:g.179404802T>A , CM000664.1:g.179404802T>A GRCh37
NC_000002.10:g.179113048T>A NCBI36
NG_011618.3:g.295728A>T , LRG_391:g.295728A>T
NG_051363.1:g.22249T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.90387A>T (TTN) ENSP00000343764.6:p.Glu30129Asp
ENST00000342175.11:c.71472A>T (TTN) ENSP00000340554.6:p.Glu23824Asp
ENST00000359218.10:c.71271A>T (TTN) ENSP00000352154.5:p.Glu23757Asp
ENST00000342175.10:c.71472A>T (TTN) ENSP00000340554.6:p.Glu23824Asp
ENST00000342992.10:c.90387A>T (TTN) ENSP00000343764.6:p.Glu30129Asp
ENST00000359218.9:c.71271A>T (TTN) ENSP00000352154.5:p.Glu23757Asp
ENST00000460472.6:c.70896A>T (TTN) ENSP00000434586.1:p.Glu23632Asp
ENST00000589042.5:c.98091A>T (TTN) MANE Select ENSP00000467141.1:p.Glu32697Asp
ENST00000591111.5:c.93168A>T (TTN) ENSP00000465570.1:p.Glu31056Asp
ENST00000615779.4:c.93168A>T (TTN) ENSP00000483597.1:p.Glu31056Asp
NM_001256850.1:c.93168A>T (TTN) NP_001243779.1:p.Glu31056Asp
NM_001267550.2:c.98091A>T (TTN) MANE Select NP_001254479.2:p.Glu32697Asp
NM_003319.4:c.70896A>T (TTN) NP_003310.4:p.Glu23632Asp
NM_133378.4:c.90387A>T (TTN) NP_596869.4:p.Glu30129Asp
NM_133432.3:c.71271A>T (TTN) NP_597676.3:p.Glu23757Asp
NM_133437.4:c.71472A>T (TTN) NP_597681.4:p.Glu23824Asp
NR_038271.1:n.446+16439T>A (TTN-AS1)
NR_038272.1:n.1841-32T>A (TTN-AS1)
XM_011511729.1:c.97188A>T (TTN) XP_011510031.1:p.Glu32396Asp
XM_011511730.1:c.71082A>T (TTN) XP_011510032.1:p.Glu23694Asp
XM_011511731.1:c.70941A>T (TTN) XP_011510033.1:p.Glu23647Asp
XM_017004819.1:c.96984A>T (TTN) XP_016860308.1:p.Glu32328Asp
XM_017004820.1:c.92382A>T (TTN) XP_016860309.1:p.Glu30794Asp
XM_017004821.1:c.92379A>T (TTN) XP_016860310.1:p.Glu30793Asp
XM_017004822.1:c.89421A>T (TTN) XP_016860311.1:p.Glu29807Asp
XM_017004823.1:c.71037A>T (TTN) XP_016860312.1:p.Glu23679Asp
XM_024453094.1:c.92532A>T (TTN) XP_024308862.1:p.Glu30844Asp
XM_024453095.1:c.92529A>T (TTN) XP_024308863.1:p.Glu30843Asp
XM_024453096.1:c.91962A>T (TTN) XP_024308864.1:p.Glu30654Asp
XM_024453097.1:c.89304A>T (TTN) XP_024308865.1:p.Glu29768Asp
XM_024453098.1:c.89223A>T (TTN) XP_024308866.1:p.Glu29741Asp
XM_024453099.1:c.70986A>T (TTN) XP_024308867.1:p.Glu23662Asp
XM_024453100.1:c.60840A>T (TTN) XP_024308868.1:p.Glu20280Asp