Canonical Allele Identifier: CA349457932

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544459G>C , CM000664.2:g.178544459G>C GRCh38
NC_000002.11:g.179409186G>C , CM000664.1:g.179409186G>C GRCh37
NC_000002.10:g.179117432G>C NCBI36
NG_011618.3:g.291344C>G , LRG_391:g.291344C>G
NG_051363.1:g.26633G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88066C>G (TTN) ENSP00000343764.6:p.His29356Asp
ENST00000342175.11:c.69151C>G (TTN) ENSP00000340554.6:p.His23051Asp
ENST00000359218.10:c.68950C>G (TTN) ENSP00000352154.5:p.His22984Asp
ENST00000342175.10:c.69151C>G (TTN) ENSP00000340554.6:p.His23051Asp
ENST00000342992.10:c.88066C>G (TTN) ENSP00000343764.6:p.His29356Asp
ENST00000359218.9:c.68950C>G (TTN) ENSP00000352154.5:p.His22984Asp
ENST00000460472.6:c.68575C>G (TTN) ENSP00000434586.1:p.His22859Asp
ENST00000589042.5:c.95770C>G (TTN) MANE Select ENSP00000467141.1:p.His31924Asp
ENST00000591111.5:c.90847C>G (TTN) ENSP00000465570.1:p.His30283Asp
ENST00000615779.4:c.90847C>G (TTN) ENSP00000483597.1:p.His30283Asp
NM_001256850.1:c.90847C>G (TTN) NP_001243779.1:p.His30283Asp
NM_001267550.2:c.95770C>G (TTN) MANE Select NP_001254479.2:p.His31924Asp
NM_003319.4:c.68575C>G (TTN) NP_003310.4:p.His22859Asp
NM_133378.4:c.88066C>G (TTN) NP_596869.4:p.His29356Asp
NM_133432.3:c.68950C>G (TTN) NP_597676.3:p.His22984Asp
NM_133437.4:c.69151C>G (TTN) NP_597681.4:p.His23051Asp
NR_038271.1:n.446+20823G>C (TTN-AS1)
NR_038272.1:n.2043+2098G>C (TTN-AS1)
XM_011511729.1:c.94867C>G (TTN) XP_011510031.1:p.His31623Asp
XM_011511730.1:c.68761C>G (TTN) XP_011510032.1:p.His22921Asp
XM_011511731.1:c.68620C>G (TTN) XP_011510033.1:p.His22874Asp
XM_017004819.1:c.94663C>G (TTN) XP_016860308.1:p.His31555Asp
XM_017004820.1:c.90061C>G (TTN) XP_016860309.1:p.His30021Asp
XM_017004821.1:c.90058C>G (TTN) XP_016860310.1:p.His30020Asp
XM_017004822.1:c.87100C>G (TTN) XP_016860311.1:p.His29034Asp
XM_017004823.1:c.68716C>G (TTN) XP_016860312.1:p.His22906Asp
XM_024453094.1:c.90211C>G (TTN) XP_024308862.1:p.His30071Asp
XM_024453095.1:c.90208C>G (TTN) XP_024308863.1:p.His30070Asp
XM_024453096.1:c.89641C>G (TTN) XP_024308864.1:p.His29881Asp
XM_024453097.1:c.86983C>G (TTN) XP_024308865.1:p.His28995Asp
XM_024453098.1:c.86902C>G (TTN) XP_024308866.1:p.His28968Asp
XM_024453099.1:c.68665C>G (TTN) XP_024308867.1:p.His22889Asp
XM_024453100.1:c.58519C>G (TTN) XP_024308868.1:p.His19507Asp