Canonical Allele Identifier: CA349607641
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614643T>G , CM000664.2:g.178614643T>G GRCh38
NC_000002.11:g.179479370T>G , CM000664.1:g.179479370T>G GRCh37
NC_000002.10:g.179187615T>G NCBI36
NG_011618.3:g.221160A>C , LRG_391:g.221160A>C
NG_051363.1:g.96817T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41167A>C (TTN) ENSP00000343764.6:p.Thr13723Pro
ENST00000342175.11:c.22252A>C (TTN) ENSP00000340554.6:p.Thr7418Pro
ENST00000359218.10:c.22051A>C (TTN) ENSP00000352154.5:p.Thr7351Pro
ENST00000342175.10:c.22252A>C (TTN) ENSP00000340554.6:p.Thr7418Pro
ENST00000342992.10:c.41167A>C (TTN) ENSP00000343764.6:p.Thr13723Pro
ENST00000359218.9:c.22051A>C (TTN) ENSP00000352154.5:p.Thr7351Pro
ENST00000460472.6:c.21676A>C (TTN) ENSP00000434586.1:p.Thr7226Pro
ENST00000589042.5:c.48871A>C (TTN) MANE Select ENSP00000467141.1:p.Thr16291Pro
ENST00000591111.5:c.43948A>C (TTN) ENSP00000465570.1:p.Thr14650Pro
ENST00000615779.4:c.43948A>C (TTN) ENSP00000483597.1:p.Thr14650Pro
NM_001256850.1:c.43948A>C (TTN) NP_001243779.1:p.Thr14650Pro
NM_001267550.2:c.48871A>C (TTN) MANE Select NP_001254479.2:p.Thr16291Pro
NM_003319.4:c.21676A>C (TTN) NP_003310.4:p.Thr7226Pro
NM_133378.4:c.41167A>C (TTN) NP_596869.4:p.Thr13723Pro
NM_133432.3:c.22051A>C (TTN) NP_597676.3:p.Thr7351Pro
NM_133437.4:c.22252A>C (TTN) NP_597681.4:p.Thr7418Pro
NR_038271.1:n.1391T>G (TTN-AS1)
XM_011511729.1:c.47968A>C (TTN) XP_011510031.1:p.Thr15990Pro
XM_011511730.1:c.21862A>C (TTN) XP_011510032.1:p.Thr7288Pro
XM_011511731.1:c.21721A>C (TTN) XP_011510033.1:p.Thr7241Pro
XM_017004819.1:c.47764A>C (TTN) XP_016860308.1:p.Thr15922Pro
XM_017004820.1:c.43162A>C (TTN) XP_016860309.1:p.Thr14388Pro
XM_017004821.1:c.43159A>C (TTN) XP_016860310.1:p.Thr14387Pro
XM_017004822.1:c.40201A>C (TTN) XP_016860311.1:p.Thr13401Pro
XM_017004823.1:c.21817A>C (TTN) XP_016860312.1:p.Thr7273Pro
XM_024453094.1:c.43312A>C (TTN) XP_024308862.1:p.Thr14438Pro
XM_024453095.1:c.43309A>C (TTN) XP_024308863.1:p.Thr14437Pro
XM_024453096.1:c.42742A>C (TTN) XP_024308864.1:p.Thr14248Pro
XM_024453097.1:c.40084A>C (TTN) XP_024308865.1:p.Thr13362Pro
XM_024453098.1:c.40003A>C (TTN) XP_024308866.1:p.Thr13335Pro
XM_024453099.1:c.21766A>C (TTN) XP_024308867.1:p.Thr7256Pro
XM_024453100.1:c.11620A>C (TTN) XP_024308868.1:p.Thr3874Pro