Canonical Allele Identifier: CA349407515

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530718C>A , CM000664.2:g.178530718C>A GRCh38
NC_000002.11:g.179395445C>A , CM000664.1:g.179395445C>A GRCh37
NC_000002.10:g.179103691C>A NCBI36
NG_011618.3:g.305085G>T , LRG_391:g.305085G>T
NG_051363.1:g.12892C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98193G>T (TTN) ENSP00000343764.6:p.Glu32731Asp
ENST00000342175.11:c.79278G>T (TTN) ENSP00000340554.6:p.Glu26426Asp
ENST00000359218.10:c.79077G>T (TTN) ENSP00000352154.5:p.Glu26359Asp
ENST00000342175.10:c.79278G>T (TTN) ENSP00000340554.6:p.Glu26426Asp
ENST00000342992.10:c.98193G>T (TTN) ENSP00000343764.6:p.Glu32731Asp
ENST00000359218.9:c.79077G>T (TTN) ENSP00000352154.5:p.Glu26359Asp
ENST00000460472.6:c.78702G>T (TTN) ENSP00000434586.1:p.Glu26234Asp
ENST00000589042.5:c.105897G>T (TTN) MANE Select ENSP00000467141.1:p.Glu35299Asp
ENST00000591111.5:c.100974G>T (TTN) ENSP00000465570.1:p.Glu33658Asp
ENST00000615779.4:c.100974G>T (TTN) ENSP00000483597.1:p.Glu33658Asp
NM_001256850.1:c.100974G>T (TTN) NP_001243779.1:p.Glu33658Asp
NM_001267550.2:c.105897G>T (TTN) MANE Select NP_001254479.2:p.Glu35299Asp
NM_003319.4:c.78702G>T (TTN) NP_003310.4:p.Glu26234Asp
NM_133378.4:c.98193G>T (TTN) NP_596869.4:p.Glu32731Asp
NM_133432.3:c.79077G>T (TTN) NP_597676.3:p.Glu26359Asp
NM_133437.4:c.79278G>T (TTN) NP_597681.4:p.Glu26426Asp
NR_038271.1:n.446+7082C>A (TTN-AS1)
NR_038272.1:n.220-5014C>A (TTN-AS1)
XM_011511729.1:c.104994G>T (TTN) XP_011510031.1:p.Glu34998Asp
XM_011511730.1:c.78888G>T (TTN) XP_011510032.1:p.Glu26296Asp
XM_011511731.1:c.78747G>T (TTN) XP_011510033.1:p.Glu26249Asp
XM_017004819.1:c.104790G>T (TTN) XP_016860308.1:p.Glu34930Asp
XM_017004820.1:c.100188G>T (TTN) XP_016860309.1:p.Glu33396Asp
XM_017004821.1:c.100185G>T (TTN) XP_016860310.1:p.Glu33395Asp
XM_017004822.1:c.97227G>T (TTN) XP_016860311.1:p.Glu32409Asp
XM_017004823.1:c.78843G>T (TTN) XP_016860312.1:p.Glu26281Asp
XM_024453094.1:c.100338G>T (TTN) XP_024308862.1:p.Glu33446Asp
XM_024453095.1:c.100335G>T (TTN) XP_024308863.1:p.Glu33445Asp
XM_024453096.1:c.99768G>T (TTN) XP_024308864.1:p.Glu33256Asp
XM_024453097.1:c.97110G>T (TTN) XP_024308865.1:p.Glu32370Asp
XM_024453098.1:c.97029G>T (TTN) XP_024308866.1:p.Glu32343Asp
XM_024453099.1:c.78792G>T (TTN) XP_024308867.1:p.Glu26264Asp
XM_024453100.1:c.68646G>T (TTN) XP_024308868.1:p.Glu22882Asp