Canonical Allele Identifier: CA349647817

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573876T>G , CM000664.2:g.178573876T>G GRCh38
NC_000002.11:g.179438603T>G , CM000664.1:g.179438603T>G GRCh37
NC_000002.10:g.179146849T>G NCBI36
NG_011618.3:g.261927A>C , LRG_391:g.261927A>C
NG_051363.1:g.56050T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64552A>C (TTN) ENSP00000343764.6:p.Asn21518His
ENST00000342175.11:c.45637A>C (TTN) ENSP00000340554.6:p.Asn15213His
ENST00000359218.10:c.45436A>C (TTN) ENSP00000352154.5:p.Asn15146His
ENST00000342175.10:c.45637A>C (TTN) ENSP00000340554.6:p.Asn15213His
ENST00000342992.10:c.64552A>C (TTN) ENSP00000343764.6:p.Asn21518His
ENST00000359218.9:c.45436A>C (TTN) ENSP00000352154.5:p.Asn15146His
ENST00000460472.6:c.45061A>C (TTN) ENSP00000434586.1:p.Asn15021His
ENST00000589042.5:c.72256A>C (TTN) MANE Select ENSP00000467141.1:p.Asn24086His
ENST00000591111.5:c.67333A>C (TTN) ENSP00000465570.1:p.Asn22445His
ENST00000615779.4:c.67333A>C (TTN) ENSP00000483597.1:p.Asn22445His
NM_001256850.1:c.67333A>C (TTN) NP_001243779.1:p.Asn22445His
NM_001267550.2:c.72256A>C (TTN) MANE Select NP_001254479.2:p.Asn24086His
NM_003319.4:c.45061A>C (TTN) NP_003310.4:p.Asn15021His
NM_133378.4:c.64552A>C (TTN) NP_596869.4:p.Asn21518His
NM_133432.3:c.45436A>C (TTN) NP_597676.3:p.Asn15146His
NM_133437.4:c.45637A>C (TTN) NP_597681.4:p.Asn15213His
NR_038271.1:n.596+2427T>G (TTN-AS1)
NR_038272.1:n.2044-8696T>G (TTN-AS1)
XM_011511729.1:c.71353A>C (TTN) XP_011510031.1:p.Asn23785His
XM_011511730.1:c.45247A>C (TTN) XP_011510032.1:p.Asn15083His
XM_011511731.1:c.45106A>C (TTN) XP_011510033.1:p.Asn15036His
XM_017004819.1:c.71149A>C (TTN) XP_016860308.1:p.Asn23717His
XM_017004820.1:c.66547A>C (TTN) XP_016860309.1:p.Asn22183His
XM_017004821.1:c.66544A>C (TTN) XP_016860310.1:p.Asn22182His
XM_017004822.1:c.63586A>C (TTN) XP_016860311.1:p.Asn21196His
XM_017004823.1:c.45202A>C (TTN) XP_016860312.1:p.Asn15068His
XM_024453094.1:c.66697A>C (TTN) XP_024308862.1:p.Asn22233His
XM_024453095.1:c.66694A>C (TTN) XP_024308863.1:p.Asn22232His
XM_024453096.1:c.66127A>C (TTN) XP_024308864.1:p.Asn22043His
XM_024453097.1:c.63469A>C (TTN) XP_024308865.1:p.Asn21157His
XM_024453098.1:c.63388A>C (TTN) XP_024308866.1:p.Asn21130His
XM_024453099.1:c.45151A>C (TTN) XP_024308867.1:p.Asn15051His
XM_024453100.1:c.35005A>C (TTN) XP_024308868.1:p.Asn11669His