Canonical Allele Identifier: CA349398142

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527016A>C , CM000664.2:g.178527016A>C GRCh38
NC_000002.11:g.179391743A>C , CM000664.1:g.179391743A>C GRCh37
NC_000002.10:g.179099989A>C NCBI36
NG_011618.3:g.308787T>G , LRG_391:g.308787T>G
NG_051363.1:g.9190A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100268T>G (TTN) ENSP00000343764.6:p.Ile33423Ser
ENST00000342175.11:c.81353T>G (TTN) ENSP00000340554.6:p.Ile27118Ser
ENST00000359218.10:c.81152T>G (TTN) ENSP00000352154.5:p.Ile27051Ser
ENST00000342175.10:c.81353T>G (TTN) ENSP00000340554.6:p.Ile27118Ser
ENST00000342992.10:c.100268T>G (TTN) ENSP00000343764.6:p.Ile33423Ser
ENST00000359218.9:c.81152T>G (TTN) ENSP00000352154.5:p.Ile27051Ser
ENST00000460472.6:c.80777T>G (TTN) ENSP00000434586.1:p.Ile26926Ser
ENST00000589042.5:c.107972T>G (TTN) MANE Select ENSP00000467141.1:p.Ile35991Ser
ENST00000591111.5:c.103049T>G (TTN) ENSP00000465570.1:p.Ile34350Ser
ENST00000615779.4:c.103049T>G (TTN) ENSP00000483597.1:p.Ile34350Ser
NM_001256850.1:c.103049T>G (TTN) NP_001243779.1:p.Ile34350Ser
NM_001267550.2:c.107972T>G (TTN) MANE Select NP_001254479.2:p.Ile35991Ser
NM_003319.4:c.80777T>G (TTN) NP_003310.4:p.Ile26926Ser
NM_133378.4:c.100268T>G (TTN) NP_596869.4:p.Ile33423Ser
NM_133432.3:c.81152T>G (TTN) NP_597676.3:p.Ile27051Ser
NM_133437.4:c.81353T>G (TTN) NP_597681.4:p.Ile27118Ser
NR_038271.1:n.446+3380A>C (TTN-AS1)
NR_038272.1:n.219+3380A>C (TTN-AS1)
XM_011511729.1:c.107069T>G (TTN) XP_011510031.1:p.Ile35690Ser
XM_011511730.1:c.80963T>G (TTN) XP_011510032.1:p.Ile26988Ser
XM_011511731.1:c.80822T>G (TTN) XP_011510033.1:p.Ile26941Ser
XM_017004819.1:c.106865T>G (TTN) XP_016860308.1:p.Ile35622Ser
XM_017004820.1:c.102263T>G (TTN) XP_016860309.1:p.Ile34088Ser
XM_017004821.1:c.102260T>G (TTN) XP_016860310.1:p.Ile34087Ser
XM_017004822.1:c.99302T>G (TTN) XP_016860311.1:p.Ile33101Ser
XM_017004823.1:c.80918T>G (TTN) XP_016860312.1:p.Ile26973Ser
XM_024453094.1:c.102413T>G (TTN) XP_024308862.1:p.Ile34138Ser
XM_024453095.1:c.102410T>G (TTN) XP_024308863.1:p.Ile34137Ser
XM_024453096.1:c.101843T>G (TTN) XP_024308864.1:p.Ile33948Ser
XM_024453097.1:c.99185T>G (TTN) XP_024308865.1:p.Ile33062Ser
XM_024453098.1:c.99104T>G (TTN) XP_024308866.1:p.Ile33035Ser
XM_024453099.1:c.80867T>G (TTN) XP_024308867.1:p.Ile26956Ser
XM_024453100.1:c.70721T>G (TTN) XP_024308868.1:p.Ile23574Ser