Canonical Allele Identifier: CA349622428

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618778T>G , CM000664.2:g.178618778T>G GRCh38
NC_000002.11:g.179483505T>G , CM000664.1:g.179483505T>G GRCh37
NC_000002.10:g.179191750T>G NCBI36
NG_011618.3:g.217025A>C , LRG_391:g.217025A>C
NG_051363.1:g.100952T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39068A>C (TTN) ENSP00000343764.6:p.Tyr13023Ser
ENST00000342175.11:c.20153A>C (TTN) ENSP00000340554.6:p.Tyr6718Ser
ENST00000359218.10:c.19952A>C (TTN) ENSP00000352154.5:p.Tyr6651Ser
ENST00000342175.10:c.20153A>C (TTN) ENSP00000340554.6:p.Tyr6718Ser
ENST00000342992.10:c.39068A>C (TTN) ENSP00000343764.6:p.Tyr13023Ser
ENST00000359218.9:c.19952A>C (TTN) ENSP00000352154.5:p.Tyr6651Ser
ENST00000460472.6:c.19577A>C (TTN) ENSP00000434586.1:p.Tyr6526Ser
ENST00000589042.5:c.46772A>C (TTN) MANE Select ENSP00000467141.1:p.Tyr15591Ser
ENST00000591111.5:c.41849A>C (TTN) ENSP00000465570.1:p.Tyr13950Ser
ENST00000615779.4:c.41849A>C (TTN) ENSP00000483597.1:p.Tyr13950Ser
NM_001256850.1:c.41849A>C (TTN) NP_001243779.1:p.Tyr13950Ser
NM_001267550.2:c.46772A>C (TTN) MANE Select NP_001254479.2:p.Tyr15591Ser
NM_003319.4:c.19577A>C (TTN) NP_003310.4:p.Tyr6526Ser
NM_133378.4:c.39068A>C (TTN) NP_596869.4:p.Tyr13023Ser
NM_133432.3:c.19952A>C (TTN) NP_597676.3:p.Tyr6651Ser
NM_133437.4:c.20153A>C (TTN) NP_597681.4:p.Tyr6718Ser
NR_038271.1:n.1605-975T>G (TTN-AS1)
XM_011511729.1:c.45869A>C (TTN) XP_011510031.1:p.Tyr15290Ser
XM_011511730.1:c.19763A>C (TTN) XP_011510032.1:p.Tyr6588Ser
XM_011511731.1:c.19622A>C (TTN) XP_011510033.1:p.Tyr6541Ser
XM_017004819.1:c.45665A>C (TTN) XP_016860308.1:p.Tyr15222Ser
XM_017004820.1:c.41063A>C (TTN) XP_016860309.1:p.Tyr13688Ser
XM_017004821.1:c.41060A>C (TTN) XP_016860310.1:p.Tyr13687Ser
XM_017004822.1:c.38102A>C (TTN) XP_016860311.1:p.Tyr12701Ser
XM_017004823.1:c.19718A>C (TTN) XP_016860312.1:p.Tyr6573Ser
XM_024453094.1:c.41213A>C (TTN) XP_024308862.1:p.Tyr13738Ser
XM_024453095.1:c.41210A>C (TTN) XP_024308863.1:p.Tyr13737Ser
XM_024453096.1:c.40643A>C (TTN) XP_024308864.1:p.Tyr13548Ser
XM_024453097.1:c.37985A>C (TTN) XP_024308865.1:p.Tyr12662Ser
XM_024453098.1:c.37904A>C (TTN) XP_024308866.1:p.Tyr12635Ser
XM_024453099.1:c.19667A>C (TTN) XP_024308867.1:p.Tyr6556Ser
XM_024453100.1:c.9521A>C (TTN) XP_024308868.1:p.Tyr3174Ser