Canonical Allele Identifier: CA349501168

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551065C>T , CM000664.2:g.178551065C>T GRCh38
NC_000002.11:g.179415792C>T , CM000664.1:g.179415792C>T GRCh37
NC_000002.10:g.179124038C>T NCBI36
NG_011618.3:g.284738G>A , LRG_391:g.284738G>A
NG_051363.1:g.33239C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83762G>A (TTN) ENSP00000343764.6:p.Gly27921Glu
ENST00000342175.11:c.64847G>A (TTN) ENSP00000340554.6:p.Gly21616Glu
ENST00000359218.10:c.64646G>A (TTN) ENSP00000352154.5:p.Gly21549Glu
ENST00000342175.10:c.64847G>A (TTN) ENSP00000340554.6:p.Gly21616Glu
ENST00000342992.10:c.83762G>A (TTN) ENSP00000343764.6:p.Gly27921Glu
ENST00000359218.9:c.64646G>A (TTN) ENSP00000352154.5:p.Gly21549Glu
ENST00000460472.6:c.64271G>A (TTN) ENSP00000434586.1:p.Gly21424Glu
ENST00000589042.5:c.91466G>A (TTN) MANE Select ENSP00000467141.1:p.Gly30489Glu
ENST00000591111.5:c.86543G>A (TTN) ENSP00000465570.1:p.Gly28848Glu
ENST00000615779.4:c.86543G>A (TTN) ENSP00000483597.1:p.Gly28848Glu
NM_001256850.1:c.86543G>A (TTN) NP_001243779.1:p.Gly28848Glu
NM_001267550.2:c.91466G>A (TTN) MANE Select NP_001254479.2:p.Gly30489Glu
NM_003319.4:c.64271G>A (TTN) NP_003310.4:p.Gly21424Glu
NM_133378.4:c.83762G>A (TTN) NP_596869.4:p.Gly27921Glu
NM_133432.3:c.64646G>A (TTN) NP_597676.3:p.Gly21549Glu
NM_133437.4:c.64847G>A (TTN) NP_597681.4:p.Gly21616Glu
NR_038271.1:n.447-20235C>T (TTN-AS1)
NR_038272.1:n.2043+8704C>T (TTN-AS1)
XM_011511729.1:c.90563G>A (TTN) XP_011510031.1:p.Gly30188Glu
XM_011511730.1:c.64457G>A (TTN) XP_011510032.1:p.Gly21486Glu
XM_011511731.1:c.64316G>A (TTN) XP_011510033.1:p.Gly21439Glu
XM_017004819.1:c.90359G>A (TTN) XP_016860308.1:p.Gly30120Glu
XM_017004820.1:c.85757G>A (TTN) XP_016860309.1:p.Gly28586Glu
XM_017004821.1:c.85754G>A (TTN) XP_016860310.1:p.Gly28585Glu
XM_017004822.1:c.82796G>A (TTN) XP_016860311.1:p.Gly27599Glu
XM_017004823.1:c.64412G>A (TTN) XP_016860312.1:p.Gly21471Glu
XM_024453094.1:c.85907G>A (TTN) XP_024308862.1:p.Gly28636Glu
XM_024453095.1:c.85904G>A (TTN) XP_024308863.1:p.Gly28635Glu
XM_024453096.1:c.85337G>A (TTN) XP_024308864.1:p.Gly28446Glu
XM_024453097.1:c.82679G>A (TTN) XP_024308865.1:p.Gly27560Glu
XM_024453098.1:c.82598G>A (TTN) XP_024308866.1:p.Gly27533Glu
XM_024453099.1:c.64361G>A (TTN) XP_024308867.1:p.Gly21454Glu
XM_024453100.1:c.54215G>A (TTN) XP_024308868.1:p.Gly18072Glu