Canonical Allele Identifier: CA349464909

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589320G>T , CM000664.2:g.178589320G>T GRCh38
NC_000002.11:g.179454047G>T , CM000664.1:g.179454047G>T GRCh37
NC_000002.10:g.179162293G>T NCBI36
NG_011618.3:g.246483C>A , LRG_391:g.246483C>A
NG_051363.1:g.71494G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.54701C>A (TTN) ENSP00000343764.6:p.Ala18234Glu
ENST00000342175.11:c.35786C>A (TTN) ENSP00000340554.6:p.Ala11929Glu
ENST00000359218.10:c.35585C>A (TTN) ENSP00000352154.5:p.Ala11862Glu
ENST00000342175.10:c.35786C>A (TTN) ENSP00000340554.6:p.Ala11929Glu
ENST00000342992.10:c.54701C>A (TTN) ENSP00000343764.6:p.Ala18234Glu
ENST00000359218.9:c.35585C>A (TTN) ENSP00000352154.5:p.Ala11862Glu
ENST00000460472.6:c.35210C>A (TTN) ENSP00000434586.1:p.Ala11737Glu
ENST00000589042.5:c.62405C>A (TTN) MANE Select ENSP00000467141.1:p.Ala20802Glu
ENST00000591111.5:c.57482C>A (TTN) ENSP00000465570.1:p.Ala19161Glu
ENST00000615779.4:c.57482C>A (TTN) ENSP00000483597.1:p.Ala19161Glu
NM_001256850.1:c.57482C>A (TTN) NP_001243779.1:p.Ala19161Glu
NM_001267550.2:c.62405C>A (TTN) MANE Select NP_001254479.2:p.Ala20802Glu
NM_003319.4:c.35210C>A (TTN) NP_003310.4:p.Ala11737Glu
NM_133378.4:c.54701C>A (TTN) NP_596869.4:p.Ala18234Glu
NM_133432.3:c.35585C>A (TTN) NP_597676.3:p.Ala11862Glu
NM_133437.4:c.35786C>A (TTN) NP_597681.4:p.Ala11929Glu
NR_038271.1:n.597-8276G>T (TTN-AS1)
NR_038272.1:n.3189-1819G>T (TTN-AS1)
XM_011511729.1:c.61502C>A (TTN) XP_011510031.1:p.Ala20501Glu
XM_011511730.1:c.35396C>A (TTN) XP_011510032.1:p.Ala11799Glu
XM_011511731.1:c.35255C>A (TTN) XP_011510033.1:p.Ala11752Glu
XM_017004819.1:c.61298C>A (TTN) XP_016860308.1:p.Ala20433Glu
XM_017004820.1:c.56696C>A (TTN) XP_016860309.1:p.Ala18899Glu
XM_017004821.1:c.56693C>A (TTN) XP_016860310.1:p.Ala18898Glu
XM_017004822.1:c.53735C>A (TTN) XP_016860311.1:p.Ala17912Glu
XM_017004823.1:c.35351C>A (TTN) XP_016860312.1:p.Ala11784Glu
XM_024453094.1:c.56846C>A (TTN) XP_024308862.1:p.Ala18949Glu
XM_024453095.1:c.56843C>A (TTN) XP_024308863.1:p.Ala18948Glu
XM_024453096.1:c.56276C>A (TTN) XP_024308864.1:p.Ala18759Glu
XM_024453097.1:c.53618C>A (TTN) XP_024308865.1:p.Ala17873Glu
XM_024453098.1:c.53537C>A (TTN) XP_024308866.1:p.Ala17846Glu
XM_024453099.1:c.35300C>A (TTN) XP_024308867.1:p.Ala11767Glu
XM_024453100.1:c.25154C>A (TTN) XP_024308868.1:p.Ala8385Glu