Canonical Allele Identifier: CA349417054

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533962T>A , CM000664.2:g.178533962T>A GRCh38
NC_000002.11:g.179398689T>A , CM000664.1:g.179398689T>A GRCh37
NC_000002.10:g.179106935T>A NCBI36
NG_011618.3:g.301841A>T , LRG_391:g.301841A>T
NG_051363.1:g.16136T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94949A>T (TTN) ENSP00000343764.6:p.Asp31650Val
ENST00000342175.11:c.76034A>T (TTN) ENSP00000340554.6:p.Asp25345Val
ENST00000359218.10:c.75833A>T (TTN) ENSP00000352154.5:p.Asp25278Val
ENST00000342175.10:c.76034A>T (TTN) ENSP00000340554.6:p.Asp25345Val
ENST00000342992.10:c.94949A>T (TTN) ENSP00000343764.6:p.Asp31650Val
ENST00000359218.9:c.75833A>T (TTN) ENSP00000352154.5:p.Asp25278Val
ENST00000460472.6:c.75458A>T (TTN) ENSP00000434586.1:p.Asp25153Val
ENST00000589042.5:c.102653A>T (TTN) MANE Select ENSP00000467141.1:p.Asp34218Val
ENST00000591111.5:c.97730A>T (TTN) ENSP00000465570.1:p.Asp32577Val
ENST00000615779.4:c.97730A>T (TTN) ENSP00000483597.1:p.Asp32577Val
NM_001256850.1:c.97730A>T (TTN) NP_001243779.1:p.Asp32577Val
NM_001267550.2:c.102653A>T (TTN) MANE Select NP_001254479.2:p.Asp34218Val
NM_003319.4:c.75458A>T (TTN) NP_003310.4:p.Asp25153Val
NM_133378.4:c.94949A>T (TTN) NP_596869.4:p.Asp31650Val
NM_133432.3:c.75833A>T (TTN) NP_597676.3:p.Asp25278Val
NM_133437.4:c.76034A>T (TTN) NP_597681.4:p.Asp25345Val
NR_038271.1:n.446+10326T>A (TTN-AS1)
NR_038272.1:n.220-1770T>A (TTN-AS1)
XM_011511729.1:c.101750A>T (TTN) XP_011510031.1:p.Asp33917Val
XM_011511730.1:c.75644A>T (TTN) XP_011510032.1:p.Asp25215Val
XM_011511731.1:c.75503A>T (TTN) XP_011510033.1:p.Asp25168Val
XM_017004819.1:c.101546A>T (TTN) XP_016860308.1:p.Asp33849Val
XM_017004820.1:c.96944A>T (TTN) XP_016860309.1:p.Asp32315Val
XM_017004821.1:c.96941A>T (TTN) XP_016860310.1:p.Asp32314Val
XM_017004822.1:c.93983A>T (TTN) XP_016860311.1:p.Asp31328Val
XM_017004823.1:c.75599A>T (TTN) XP_016860312.1:p.Asp25200Val
XM_024453094.1:c.97094A>T (TTN) XP_024308862.1:p.Asp32365Val
XM_024453095.1:c.97091A>T (TTN) XP_024308863.1:p.Asp32364Val
XM_024453096.1:c.96524A>T (TTN) XP_024308864.1:p.Asp32175Val
XM_024453097.1:c.93866A>T (TTN) XP_024308865.1:p.Asp31289Val
XM_024453098.1:c.93785A>T (TTN) XP_024308866.1:p.Asp31262Val
XM_024453099.1:c.75548A>T (TTN) XP_024308867.1:p.Asp25183Val
XM_024453100.1:c.65402A>T (TTN) XP_024308868.1:p.Asp21801Val