Canonical Allele Identifier: CA349423335

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579568A>C , CM000664.2:g.178579568A>C GRCh38
NC_000002.11:g.179444295A>C , CM000664.1:g.179444295A>C GRCh37
NC_000002.10:g.179152541A>C NCBI36
NG_011618.3:g.256235T>G , LRG_391:g.256235T>G
NG_051363.1:g.61742A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.59925T>G (TTN) ENSP00000343764.6:p.Asp19975Glu
ENST00000342175.11:c.41010T>G (TTN) ENSP00000340554.6:p.Asp13670Glu
ENST00000359218.10:c.40809T>G (TTN) ENSP00000352154.5:p.Asp13603Glu
ENST00000342175.10:c.41010T>G (TTN) ENSP00000340554.6:p.Asp13670Glu
ENST00000342992.10:c.59925T>G (TTN) ENSP00000343764.6:p.Asp19975Glu
ENST00000359218.9:c.40809T>G (TTN) ENSP00000352154.5:p.Asp13603Glu
ENST00000460472.6:c.40434T>G (TTN) ENSP00000434586.1:p.Asp13478Glu
ENST00000589042.5:c.67629T>G (TTN) MANE Select ENSP00000467141.1:p.Asp22543Glu
ENST00000591111.5:c.62706T>G (TTN) ENSP00000465570.1:p.Asp20902Glu
ENST00000615779.4:c.62706T>G (TTN) ENSP00000483597.1:p.Asp20902Glu
NM_001256850.1:c.62706T>G (TTN) NP_001243779.1:p.Asp20902Glu
NM_001267550.2:c.67629T>G (TTN) MANE Select NP_001254479.2:p.Asp22543Glu
NM_003319.4:c.40434T>G (TTN) NP_003310.4:p.Asp13478Glu
NM_133378.4:c.59925T>G (TTN) NP_596869.4:p.Asp19975Glu
NM_133432.3:c.40809T>G (TTN) NP_597676.3:p.Asp13603Glu
NM_133437.4:c.41010T>G (TTN) NP_597681.4:p.Asp13670Glu
NR_038271.1:n.596+8119A>C (TTN-AS1)
NR_038272.1:n.2044-3004A>C (TTN-AS1)
XM_011511729.1:c.66726T>G (TTN) XP_011510031.1:p.Asp22242Glu
XM_011511730.1:c.40620T>G (TTN) XP_011510032.1:p.Asp13540Glu
XM_011511731.1:c.40479T>G (TTN) XP_011510033.1:p.Asp13493Glu
XM_017004819.1:c.66522T>G (TTN) XP_016860308.1:p.Asp22174Glu
XM_017004820.1:c.61920T>G (TTN) XP_016860309.1:p.Asp20640Glu
XM_017004821.1:c.61917T>G (TTN) XP_016860310.1:p.Asp20639Glu
XM_017004822.1:c.58959T>G (TTN) XP_016860311.1:p.Asp19653Glu
XM_017004823.1:c.40575T>G (TTN) XP_016860312.1:p.Asp13525Glu
XM_024453094.1:c.62070T>G (TTN) XP_024308862.1:p.Asp20690Glu
XM_024453095.1:c.62067T>G (TTN) XP_024308863.1:p.Asp20689Glu
XM_024453096.1:c.61500T>G (TTN) XP_024308864.1:p.Asp20500Glu
XM_024453097.1:c.58842T>G (TTN) XP_024308865.1:p.Asp19614Glu
XM_024453098.1:c.58761T>G (TTN) XP_024308866.1:p.Asp19587Glu
XM_024453099.1:c.40524T>G (TTN) XP_024308867.1:p.Asp13508Glu
XM_024453100.1:c.30378T>G (TTN) XP_024308868.1:p.Asp10126Glu