Canonical Allele Identifier: CA349568897

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607679G>T , CM000664.2:g.178607679G>T GRCh38
NC_000002.11:g.179472406G>T , CM000664.1:g.179472406G>T GRCh37
NC_000002.10:g.179180651G>T NCBI36
NG_011618.3:g.228124C>A , LRG_391:g.228124C>A
NG_051363.1:g.89853G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.45305C>A (TTN) ENSP00000343764.6:p.Pro15102Gln
ENST00000342175.11:c.26390C>A (TTN) ENSP00000340554.6:p.Pro8797Gln
ENST00000359218.10:c.26189C>A (TTN) ENSP00000352154.5:p.Pro8730Gln
ENST00000342175.10:c.26390C>A (TTN) ENSP00000340554.6:p.Pro8797Gln
ENST00000342992.10:c.45305C>A (TTN) ENSP00000343764.6:p.Pro15102Gln
ENST00000359218.9:c.26189C>A (TTN) ENSP00000352154.5:p.Pro8730Gln
ENST00000460472.6:c.25814C>A (TTN) ENSP00000434586.1:p.Pro8605Gln
ENST00000589042.5:c.53009C>A (TTN) MANE Select ENSP00000467141.1:p.Pro17670Gln
ENST00000591111.5:c.48086C>A (TTN) ENSP00000465570.1:p.Pro16029Gln
ENST00000615779.4:c.48086C>A (TTN) ENSP00000483597.1:p.Pro16029Gln
NM_001256850.1:c.48086C>A (TTN) NP_001243779.1:p.Pro16029Gln
NM_001267550.2:c.53009C>A (TTN) MANE Select NP_001254479.2:p.Pro17670Gln
NM_003319.4:c.25814C>A (TTN) NP_003310.4:p.Pro8605Gln
NM_133378.4:c.45305C>A (TTN) NP_596869.4:p.Pro15102Gln
NM_133432.3:c.26189C>A (TTN) NP_597676.3:p.Pro8730Gln
NM_133437.4:c.26390C>A (TTN) NP_597681.4:p.Pro8797Gln
NR_038271.1:n.683-488G>T (TTN-AS1)
XM_011511729.1:c.52106C>A (TTN) XP_011510031.1:p.Pro17369Gln
XM_011511730.1:c.26000C>A (TTN) XP_011510032.1:p.Pro8667Gln
XM_011511731.1:c.25859C>A (TTN) XP_011510033.1:p.Pro8620Gln
XM_017004819.1:c.51902C>A (TTN) XP_016860308.1:p.Pro17301Gln
XM_017004820.1:c.47300C>A (TTN) XP_016860309.1:p.Pro15767Gln
XM_017004821.1:c.47297C>A (TTN) XP_016860310.1:p.Pro15766Gln
XM_017004822.1:c.44339C>A (TTN) XP_016860311.1:p.Pro14780Gln
XM_017004823.1:c.25955C>A (TTN) XP_016860312.1:p.Pro8652Gln
XM_024453094.1:c.47450C>A (TTN) XP_024308862.1:p.Pro15817Gln
XM_024453095.1:c.47447C>A (TTN) XP_024308863.1:p.Pro15816Gln
XM_024453096.1:c.46880C>A (TTN) XP_024308864.1:p.Pro15627Gln
XM_024453097.1:c.44222C>A (TTN) XP_024308865.1:p.Pro14741Gln
XM_024453098.1:c.44141C>A (TTN) XP_024308866.1:p.Pro14714Gln
XM_024453099.1:c.25904C>A (TTN) XP_024308867.1:p.Pro8635Gln
XM_024453100.1:c.15758C>A (TTN) XP_024308868.1:p.Pro5253Gln