Canonical Allele Identifier: CA349648292

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573976A>C , CM000664.2:g.178573976A>C GRCh38
NC_000002.11:g.179438703A>C , CM000664.1:g.179438703A>C GRCh37
NC_000002.10:g.179146949A>C NCBI36
NG_011618.3:g.261827T>G , LRG_391:g.261827T>G
NG_051363.1:g.56150A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64452T>G (TTN) ENSP00000343764.6:p.Asp21484Glu
ENST00000342175.11:c.45537T>G (TTN) ENSP00000340554.6:p.Asp15179Glu
ENST00000359218.10:c.45336T>G (TTN) ENSP00000352154.5:p.Asp15112Glu
ENST00000342175.10:c.45537T>G (TTN) ENSP00000340554.6:p.Asp15179Glu
ENST00000342992.10:c.64452T>G (TTN) ENSP00000343764.6:p.Asp21484Glu
ENST00000359218.9:c.45336T>G (TTN) ENSP00000352154.5:p.Asp15112Glu
ENST00000460472.6:c.44961T>G (TTN) ENSP00000434586.1:p.Asp14987Glu
ENST00000589042.5:c.72156T>G (TTN) MANE Select ENSP00000467141.1:p.Asp24052Glu
ENST00000591111.5:c.67233T>G (TTN) ENSP00000465570.1:p.Asp22411Glu
ENST00000615779.4:c.67233T>G (TTN) ENSP00000483597.1:p.Asp22411Glu
NM_001256850.1:c.67233T>G (TTN) NP_001243779.1:p.Asp22411Glu
NM_001267550.2:c.72156T>G (TTN) MANE Select NP_001254479.2:p.Asp24052Glu
NM_003319.4:c.44961T>G (TTN) NP_003310.4:p.Asp14987Glu
NM_133378.4:c.64452T>G (TTN) NP_596869.4:p.Asp21484Glu
NM_133432.3:c.45336T>G (TTN) NP_597676.3:p.Asp15112Glu
NM_133437.4:c.45537T>G (TTN) NP_597681.4:p.Asp15179Glu
NR_038271.1:n.596+2527A>C (TTN-AS1)
NR_038272.1:n.2044-8596A>C (TTN-AS1)
XM_011511729.1:c.71253T>G (TTN) XP_011510031.1:p.Asp23751Glu
XM_011511730.1:c.45147T>G (TTN) XP_011510032.1:p.Asp15049Glu
XM_011511731.1:c.45006T>G (TTN) XP_011510033.1:p.Asp15002Glu
XM_017004819.1:c.71049T>G (TTN) XP_016860308.1:p.Asp23683Glu
XM_017004820.1:c.66447T>G (TTN) XP_016860309.1:p.Asp22149Glu
XM_017004821.1:c.66444T>G (TTN) XP_016860310.1:p.Asp22148Glu
XM_017004822.1:c.63486T>G (TTN) XP_016860311.1:p.Asp21162Glu
XM_017004823.1:c.45102T>G (TTN) XP_016860312.1:p.Asp15034Glu
XM_024453094.1:c.66597T>G (TTN) XP_024308862.1:p.Asp22199Glu
XM_024453095.1:c.66594T>G (TTN) XP_024308863.1:p.Asp22198Glu
XM_024453096.1:c.66027T>G (TTN) XP_024308864.1:p.Asp22009Glu
XM_024453097.1:c.63369T>G (TTN) XP_024308865.1:p.Asp21123Glu
XM_024453098.1:c.63288T>G (TTN) XP_024308866.1:p.Asp21096Glu
XM_024453099.1:c.45051T>G (TTN) XP_024308867.1:p.Asp15017Glu
XM_024453100.1:c.34905T>G (TTN) XP_024308868.1:p.Asp11635Glu