Canonical Allele Identifier: CA349501123

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551056T>G , CM000664.2:g.178551056T>G GRCh38
NC_000002.11:g.179415783T>G , CM000664.1:g.179415783T>G GRCh37
NC_000002.10:g.179124029T>G NCBI36
NG_011618.3:g.284747A>C , LRG_391:g.284747A>C
NG_051363.1:g.33230T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83771A>C (TTN) ENSP00000343764.6:p.Tyr27924Ser
ENST00000342175.11:c.64856A>C (TTN) ENSP00000340554.6:p.Tyr21619Ser
ENST00000359218.10:c.64655A>C (TTN) ENSP00000352154.5:p.Tyr21552Ser
ENST00000342175.10:c.64856A>C (TTN) ENSP00000340554.6:p.Tyr21619Ser
ENST00000342992.10:c.83771A>C (TTN) ENSP00000343764.6:p.Tyr27924Ser
ENST00000359218.9:c.64655A>C (TTN) ENSP00000352154.5:p.Tyr21552Ser
ENST00000460472.6:c.64280A>C (TTN) ENSP00000434586.1:p.Tyr21427Ser
ENST00000589042.5:c.91475A>C (TTN) MANE Select ENSP00000467141.1:p.Tyr30492Ser
ENST00000591111.5:c.86552A>C (TTN) ENSP00000465570.1:p.Tyr28851Ser
ENST00000615779.4:c.86552A>C (TTN) ENSP00000483597.1:p.Tyr28851Ser
NM_001256850.1:c.86552A>C (TTN) NP_001243779.1:p.Tyr28851Ser
NM_001267550.2:c.91475A>C (TTN) MANE Select NP_001254479.2:p.Tyr30492Ser
NM_003319.4:c.64280A>C (TTN) NP_003310.4:p.Tyr21427Ser
NM_133378.4:c.83771A>C (TTN) NP_596869.4:p.Tyr27924Ser
NM_133432.3:c.64655A>C (TTN) NP_597676.3:p.Tyr21552Ser
NM_133437.4:c.64856A>C (TTN) NP_597681.4:p.Tyr21619Ser
NR_038271.1:n.447-20244T>G (TTN-AS1)
NR_038272.1:n.2043+8695T>G (TTN-AS1)
XM_011511729.1:c.90572A>C (TTN) XP_011510031.1:p.Tyr30191Ser
XM_011511730.1:c.64466A>C (TTN) XP_011510032.1:p.Tyr21489Ser
XM_011511731.1:c.64325A>C (TTN) XP_011510033.1:p.Tyr21442Ser
XM_017004819.1:c.90368A>C (TTN) XP_016860308.1:p.Tyr30123Ser
XM_017004820.1:c.85766A>C (TTN) XP_016860309.1:p.Tyr28589Ser
XM_017004821.1:c.85763A>C (TTN) XP_016860310.1:p.Tyr28588Ser
XM_017004822.1:c.82805A>C (TTN) XP_016860311.1:p.Tyr27602Ser
XM_017004823.1:c.64421A>C (TTN) XP_016860312.1:p.Tyr21474Ser
XM_024453094.1:c.85916A>C (TTN) XP_024308862.1:p.Tyr28639Ser
XM_024453095.1:c.85913A>C (TTN) XP_024308863.1:p.Tyr28638Ser
XM_024453096.1:c.85346A>C (TTN) XP_024308864.1:p.Tyr28449Ser
XM_024453097.1:c.82688A>C (TTN) XP_024308865.1:p.Tyr27563Ser
XM_024453098.1:c.82607A>C (TTN) XP_024308866.1:p.Tyr27536Ser
XM_024453099.1:c.64370A>C (TTN) XP_024308867.1:p.Tyr21457Ser
XM_024453100.1:c.54224A>C (TTN) XP_024308868.1:p.Tyr18075Ser