Canonical Allele Identifier: CA349566071
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607490T>G , CM000664.2:g.178607490T>G GRCh38
NC_000002.11:g.179472217T>G , CM000664.1:g.179472217T>G GRCh37
NC_000002.10:g.179180462T>G NCBI36
NG_011618.3:g.228313A>C , LRG_391:g.228313A>C
NG_051363.1:g.89664T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.45494A>C (TTN) ENSP00000343764.6:p.Asp15165Ala
ENST00000342175.11:c.26579A>C (TTN) ENSP00000340554.6:p.Asp8860Ala
ENST00000359218.10:c.26378A>C (TTN) ENSP00000352154.5:p.Asp8793Ala
ENST00000342175.10:c.26579A>C (TTN) ENSP00000340554.6:p.Asp8860Ala
ENST00000342992.10:c.45494A>C (TTN) ENSP00000343764.6:p.Asp15165Ala
ENST00000359218.9:c.26378A>C (TTN) ENSP00000352154.5:p.Asp8793Ala
ENST00000460472.6:c.26003A>C (TTN) ENSP00000434586.1:p.Asp8668Ala
ENST00000589042.5:c.53198A>C (TTN) MANE Select ENSP00000467141.1:p.Asp17733Ala
ENST00000591111.5:c.48275A>C (TTN) ENSP00000465570.1:p.Asp16092Ala
ENST00000615779.4:c.48275A>C (TTN) ENSP00000483597.1:p.Asp16092Ala
NM_001256850.1:c.48275A>C (TTN) NP_001243779.1:p.Asp16092Ala
NM_001267550.2:c.53198A>C (TTN) MANE Select NP_001254479.2:p.Asp17733Ala
NM_003319.4:c.26003A>C (TTN) NP_003310.4:p.Asp8668Ala
NM_133378.4:c.45494A>C (TTN) NP_596869.4:p.Asp15165Ala
NM_133432.3:c.26378A>C (TTN) NP_597676.3:p.Asp8793Ala
NM_133437.4:c.26579A>C (TTN) NP_597681.4:p.Asp8860Ala
NR_038271.1:n.683-677T>G (TTN-AS1)
XM_011511729.1:c.52295A>C (TTN) XP_011510031.1:p.Asp17432Ala
XM_011511730.1:c.26189A>C (TTN) XP_011510032.1:p.Asp8730Ala
XM_011511731.1:c.26048A>C (TTN) XP_011510033.1:p.Asp8683Ala
XM_017004819.1:c.52091A>C (TTN) XP_016860308.1:p.Asp17364Ala
XM_017004820.1:c.47489A>C (TTN) XP_016860309.1:p.Asp15830Ala
XM_017004821.1:c.47486A>C (TTN) XP_016860310.1:p.Asp15829Ala
XM_017004822.1:c.44528A>C (TTN) XP_016860311.1:p.Asp14843Ala
XM_017004823.1:c.26144A>C (TTN) XP_016860312.1:p.Asp8715Ala
XM_024453094.1:c.47639A>C (TTN) XP_024308862.1:p.Asp15880Ala
XM_024453095.1:c.47636A>C (TTN) XP_024308863.1:p.Asp15879Ala
XM_024453096.1:c.47069A>C (TTN) XP_024308864.1:p.Asp15690Ala
XM_024453097.1:c.44411A>C (TTN) XP_024308865.1:p.Asp14804Ala
XM_024453098.1:c.44330A>C (TTN) XP_024308866.1:p.Asp14777Ala
XM_024453099.1:c.26093A>C (TTN) XP_024308867.1:p.Asp8698Ala
XM_024453100.1:c.15947A>C (TTN) XP_024308868.1:p.Asp5316Ala