Canonical Allele Identifier: CA349504196

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551851T>C , CM000664.2:g.178551851T>C GRCh38
NC_000002.11:g.179416578T>C , CM000664.1:g.179416578T>C GRCh37
NC_000002.10:g.179124824T>C NCBI36
NG_011618.3:g.283952A>G , LRG_391:g.283952A>G
NG_051363.1:g.34025T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83345A>G (TTN) ENSP00000343764.6:p.Tyr27782Cys
ENST00000342175.11:c.64430A>G (TTN) ENSP00000340554.6:p.Tyr21477Cys
ENST00000359218.10:c.64229A>G (TTN) ENSP00000352154.5:p.Tyr21410Cys
ENST00000342175.10:c.64430A>G (TTN) ENSP00000340554.6:p.Tyr21477Cys
ENST00000342992.10:c.83345A>G (TTN) ENSP00000343764.6:p.Tyr27782Cys
ENST00000359218.9:c.64229A>G (TTN) ENSP00000352154.5:p.Tyr21410Cys
ENST00000460472.6:c.63854A>G (TTN) ENSP00000434586.1:p.Tyr21285Cys
ENST00000589042.5:c.91049A>G (TTN) MANE Select ENSP00000467141.1:p.Tyr30350Cys
ENST00000591111.5:c.86126A>G (TTN) ENSP00000465570.1:p.Tyr28709Cys
ENST00000615779.4:c.86126A>G (TTN) ENSP00000483597.1:p.Tyr28709Cys
NM_001256850.1:c.86126A>G (TTN) NP_001243779.1:p.Tyr28709Cys
NM_001267550.2:c.91049A>G (TTN) MANE Select NP_001254479.2:p.Tyr30350Cys
NM_003319.4:c.63854A>G (TTN) NP_003310.4:p.Tyr21285Cys
NM_133378.4:c.83345A>G (TTN) NP_596869.4:p.Tyr27782Cys
NM_133432.3:c.64229A>G (TTN) NP_597676.3:p.Tyr21410Cys
NM_133437.4:c.64430A>G (TTN) NP_597681.4:p.Tyr21477Cys
NR_038271.1:n.447-19449T>C (TTN-AS1)
NR_038272.1:n.2043+9490T>C (TTN-AS1)
XM_011511729.1:c.90146A>G (TTN) XP_011510031.1:p.Tyr30049Cys
XM_011511730.1:c.64040A>G (TTN) XP_011510032.1:p.Tyr21347Cys
XM_011511731.1:c.63899A>G (TTN) XP_011510033.1:p.Tyr21300Cys
XM_017004819.1:c.89942A>G (TTN) XP_016860308.1:p.Tyr29981Cys
XM_017004820.1:c.85340A>G (TTN) XP_016860309.1:p.Tyr28447Cys
XM_017004821.1:c.85337A>G (TTN) XP_016860310.1:p.Tyr28446Cys
XM_017004822.1:c.82379A>G (TTN) XP_016860311.1:p.Tyr27460Cys
XM_017004823.1:c.63995A>G (TTN) XP_016860312.1:p.Tyr21332Cys
XM_024453094.1:c.85490A>G (TTN) XP_024308862.1:p.Tyr28497Cys
XM_024453095.1:c.85487A>G (TTN) XP_024308863.1:p.Tyr28496Cys
XM_024453096.1:c.84920A>G (TTN) XP_024308864.1:p.Tyr28307Cys
XM_024453097.1:c.82262A>G (TTN) XP_024308865.1:p.Tyr27421Cys
XM_024453098.1:c.82181A>G (TTN) XP_024308866.1:p.Tyr27394Cys
XM_024453099.1:c.63944A>G (TTN) XP_024308867.1:p.Tyr21315Cys
XM_024453100.1:c.53798A>G (TTN) XP_024308868.1:p.Tyr17933Cys