Canonical Allele Identifier: CA349435984

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584576C>G , CM000664.2:g.178584576C>G GRCh38
NC_000002.11:g.179449303C>G , CM000664.1:g.179449303C>G GRCh37
NC_000002.10:g.179157549C>G NCBI36
NG_011618.3:g.251227G>C , LRG_391:g.251227G>C
NG_051363.1:g.66750C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57271G>C (TTN) ENSP00000343764.6:p.Val19091Leu
ENST00000342175.11:c.38356G>C (TTN) ENSP00000340554.6:p.Val12786Leu
ENST00000359218.10:c.38155G>C (TTN) ENSP00000352154.5:p.Val12719Leu
ENST00000342175.10:c.38356G>C (TTN) ENSP00000340554.6:p.Val12786Leu
ENST00000342992.10:c.57271G>C (TTN) ENSP00000343764.6:p.Val19091Leu
ENST00000359218.9:c.38155G>C (TTN) ENSP00000352154.5:p.Val12719Leu
ENST00000460472.6:c.37780G>C (TTN) ENSP00000434586.1:p.Val12594Leu
ENST00000589042.5:c.64975G>C (TTN) MANE Select ENSP00000467141.1:p.Val21659Leu
ENST00000591111.5:c.60052G>C (TTN) ENSP00000465570.1:p.Val20018Leu
ENST00000615779.4:c.60052G>C (TTN) ENSP00000483597.1:p.Val20018Leu
NM_001256850.1:c.60052G>C (TTN) NP_001243779.1:p.Val20018Leu
NM_001267550.2:c.64975G>C (TTN) MANE Select NP_001254479.2:p.Val21659Leu
NM_003319.4:c.37780G>C (TTN) NP_003310.4:p.Val12594Leu
NM_133378.4:c.57271G>C (TTN) NP_596869.4:p.Val19091Leu
NM_133432.3:c.38155G>C (TTN) NP_597676.3:p.Val12719Leu
NM_133437.4:c.38356G>C (TTN) NP_597681.4:p.Val12786Leu
NR_038271.1:n.597-13020C>G (TTN-AS1)
NR_038272.1:n.2771C>G (TTN-AS1)
XM_011511729.1:c.64072G>C (TTN) XP_011510031.1:p.Val21358Leu
XM_011511730.1:c.37966G>C (TTN) XP_011510032.1:p.Val12656Leu
XM_011511731.1:c.37825G>C (TTN) XP_011510033.1:p.Val12609Leu
XM_017004819.1:c.63868G>C (TTN) XP_016860308.1:p.Val21290Leu
XM_017004820.1:c.59266G>C (TTN) XP_016860309.1:p.Val19756Leu
XM_017004821.1:c.59263G>C (TTN) XP_016860310.1:p.Val19755Leu
XM_017004822.1:c.56305G>C (TTN) XP_016860311.1:p.Val18769Leu
XM_017004823.1:c.37921G>C (TTN) XP_016860312.1:p.Val12641Leu
XM_024453094.1:c.59416G>C (TTN) XP_024308862.1:p.Val19806Leu
XM_024453095.1:c.59413G>C (TTN) XP_024308863.1:p.Val19805Leu
XM_024453096.1:c.58846G>C (TTN) XP_024308864.1:p.Val19616Leu
XM_024453097.1:c.56188G>C (TTN) XP_024308865.1:p.Val18730Leu
XM_024453098.1:c.56107G>C (TTN) XP_024308866.1:p.Val18703Leu
XM_024453099.1:c.37870G>C (TTN) XP_024308867.1:p.Val12624Leu
XM_024453100.1:c.27724G>C (TTN) XP_024308868.1:p.Val9242Leu