Canonical Allele Identifier: CA349400698

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527626T>C , CM000664.2:g.178527626T>C GRCh38
NC_000002.11:g.179392353T>C , CM000664.1:g.179392353T>C GRCh37
NC_000002.10:g.179100599T>C NCBI36
NG_011618.3:g.308177A>G , LRG_391:g.308177A>G
NG_051363.1:g.9800T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99796A>G (TTN) ENSP00000343764.6:p.Ser33266Gly
ENST00000342175.11:c.80881A>G (TTN) ENSP00000340554.6:p.Ser26961Gly
ENST00000359218.10:c.80680A>G (TTN) ENSP00000352154.5:p.Ser26894Gly
ENST00000342175.10:c.80881A>G (TTN) ENSP00000340554.6:p.Ser26961Gly
ENST00000342992.10:c.99796A>G (TTN) ENSP00000343764.6:p.Ser33266Gly
ENST00000359218.9:c.80680A>G (TTN) ENSP00000352154.5:p.Ser26894Gly
ENST00000460472.6:c.80305A>G (TTN) ENSP00000434586.1:p.Ser26769Gly
ENST00000589042.5:c.107500A>G (TTN) MANE Select ENSP00000467141.1:p.Ser35834Gly
ENST00000591111.5:c.102577A>G (TTN) ENSP00000465570.1:p.Ser34193Gly
ENST00000615779.4:c.102577A>G (TTN) ENSP00000483597.1:p.Ser34193Gly
NM_001256850.1:c.102577A>G (TTN) NP_001243779.1:p.Ser34193Gly
NM_001267550.2:c.107500A>G (TTN) MANE Select NP_001254479.2:p.Ser35834Gly
NM_003319.4:c.80305A>G (TTN) NP_003310.4:p.Ser26769Gly
NM_133378.4:c.99796A>G (TTN) NP_596869.4:p.Ser33266Gly
NM_133432.3:c.80680A>G (TTN) NP_597676.3:p.Ser26894Gly
NM_133437.4:c.80881A>G (TTN) NP_597681.4:p.Ser26961Gly
NR_038271.1:n.446+3990T>C (TTN-AS1)
NR_038272.1:n.219+3990T>C (TTN-AS1)
XM_011511729.1:c.106597A>G (TTN) XP_011510031.1:p.Ser35533Gly
XM_011511730.1:c.80491A>G (TTN) XP_011510032.1:p.Ser26831Gly
XM_011511731.1:c.80350A>G (TTN) XP_011510033.1:p.Ser26784Gly
XM_017004819.1:c.106393A>G (TTN) XP_016860308.1:p.Ser35465Gly
XM_017004820.1:c.101791A>G (TTN) XP_016860309.1:p.Ser33931Gly
XM_017004821.1:c.101788A>G (TTN) XP_016860310.1:p.Ser33930Gly
XM_017004822.1:c.98830A>G (TTN) XP_016860311.1:p.Ser32944Gly
XM_017004823.1:c.80446A>G (TTN) XP_016860312.1:p.Ser26816Gly
XM_024453094.1:c.101941A>G (TTN) XP_024308862.1:p.Ser33981Gly
XM_024453095.1:c.101938A>G (TTN) XP_024308863.1:p.Ser33980Gly
XM_024453096.1:c.101371A>G (TTN) XP_024308864.1:p.Ser33791Gly
XM_024453097.1:c.98713A>G (TTN) XP_024308865.1:p.Ser32905Gly
XM_024453098.1:c.98632A>G (TTN) XP_024308866.1:p.Ser32878Gly
XM_024453099.1:c.80395A>G (TTN) XP_024308867.1:p.Ser26799Gly
XM_024453100.1:c.70249A>G (TTN) XP_024308868.1:p.Ser23417Gly