Canonical Allele Identifier: CA349622436

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618781G>T , CM000664.2:g.178618781G>T GRCh38
NC_000002.11:g.179483508G>T , CM000664.1:g.179483508G>T GRCh37
NC_000002.10:g.179191753G>T NCBI36
NG_011618.3:g.217022C>A , LRG_391:g.217022C>A
NG_051363.1:g.100955G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39065C>A (TTN) ENSP00000343764.6:p.Pro13022Gln
ENST00000342175.11:c.20150C>A (TTN) ENSP00000340554.6:p.Pro6717Gln
ENST00000359218.10:c.19949C>A (TTN) ENSP00000352154.5:p.Pro6650Gln
ENST00000342175.10:c.20150C>A (TTN) ENSP00000340554.6:p.Pro6717Gln
ENST00000342992.10:c.39065C>A (TTN) ENSP00000343764.6:p.Pro13022Gln
ENST00000359218.9:c.19949C>A (TTN) ENSP00000352154.5:p.Pro6650Gln
ENST00000460472.6:c.19574C>A (TTN) ENSP00000434586.1:p.Pro6525Gln
ENST00000589042.5:c.46769C>A (TTN) MANE Select ENSP00000467141.1:p.Pro15590Gln
ENST00000591111.5:c.41846C>A (TTN) ENSP00000465570.1:p.Pro13949Gln
ENST00000615779.4:c.41846C>A (TTN) ENSP00000483597.1:p.Pro13949Gln
NM_001256850.1:c.41846C>A (TTN) NP_001243779.1:p.Pro13949Gln
NM_001267550.2:c.46769C>A (TTN) MANE Select NP_001254479.2:p.Pro15590Gln
NM_003319.4:c.19574C>A (TTN) NP_003310.4:p.Pro6525Gln
NM_133378.4:c.39065C>A (TTN) NP_596869.4:p.Pro13022Gln
NM_133432.3:c.19949C>A (TTN) NP_597676.3:p.Pro6650Gln
NM_133437.4:c.20150C>A (TTN) NP_597681.4:p.Pro6717Gln
NR_038271.1:n.1605-972G>T (TTN-AS1)
XM_011511729.1:c.45866C>A (TTN) XP_011510031.1:p.Pro15289Gln
XM_011511730.1:c.19760C>A (TTN) XP_011510032.1:p.Pro6587Gln
XM_011511731.1:c.19619C>A (TTN) XP_011510033.1:p.Pro6540Gln
XM_017004819.1:c.45662C>A (TTN) XP_016860308.1:p.Pro15221Gln
XM_017004820.1:c.41060C>A (TTN) XP_016860309.1:p.Pro13687Gln
XM_017004821.1:c.41057C>A (TTN) XP_016860310.1:p.Pro13686Gln
XM_017004822.1:c.38099C>A (TTN) XP_016860311.1:p.Pro12700Gln
XM_017004823.1:c.19715C>A (TTN) XP_016860312.1:p.Pro6572Gln
XM_024453094.1:c.41210C>A (TTN) XP_024308862.1:p.Pro13737Gln
XM_024453095.1:c.41207C>A (TTN) XP_024308863.1:p.Pro13736Gln
XM_024453096.1:c.40640C>A (TTN) XP_024308864.1:p.Pro13547Gln
XM_024453097.1:c.37982C>A (TTN) XP_024308865.1:p.Pro12661Gln
XM_024453098.1:c.37901C>A (TTN) XP_024308866.1:p.Pro12634Gln
XM_024453099.1:c.19664C>A (TTN) XP_024308867.1:p.Pro6555Gln
XM_024453100.1:c.9518C>A (TTN) XP_024308868.1:p.Pro3173Gln