Canonical Allele Identifier: CA349400219

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527613C>T , CM000664.2:g.178527613C>T GRCh38
NC_000002.11:g.179392340C>T , CM000664.1:g.179392340C>T GRCh37
NC_000002.10:g.179100586C>T NCBI36
NG_011618.3:g.308190G>A , LRG_391:g.308190G>A
NG_051363.1:g.9787C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99809G>A (TTN) ENSP00000343764.6:p.Ser33270Asn
ENST00000342175.11:c.80894G>A (TTN) ENSP00000340554.6:p.Ser26965Asn
ENST00000359218.10:c.80693G>A (TTN) ENSP00000352154.5:p.Ser26898Asn
ENST00000342175.10:c.80894G>A (TTN) ENSP00000340554.6:p.Ser26965Asn
ENST00000342992.10:c.99809G>A (TTN) ENSP00000343764.6:p.Ser33270Asn
ENST00000359218.9:c.80693G>A (TTN) ENSP00000352154.5:p.Ser26898Asn
ENST00000460472.6:c.80318G>A (TTN) ENSP00000434586.1:p.Ser26773Asn
ENST00000589042.5:c.107513G>A (TTN) MANE Select ENSP00000467141.1:p.Ser35838Asn
ENST00000591111.5:c.102590G>A (TTN) ENSP00000465570.1:p.Ser34197Asn
ENST00000615779.4:c.102590G>A (TTN) ENSP00000483597.1:p.Ser34197Asn
NM_001256850.1:c.102590G>A (TTN) NP_001243779.1:p.Ser34197Asn
NM_001267550.2:c.107513G>A (TTN) MANE Select NP_001254479.2:p.Ser35838Asn
NM_003319.4:c.80318G>A (TTN) NP_003310.4:p.Ser26773Asn
NM_133378.4:c.99809G>A (TTN) NP_596869.4:p.Ser33270Asn
NM_133432.3:c.80693G>A (TTN) NP_597676.3:p.Ser26898Asn
NM_133437.4:c.80894G>A (TTN) NP_597681.4:p.Ser26965Asn
NR_038271.1:n.446+3977C>T (TTN-AS1)
NR_038272.1:n.219+3977C>T (TTN-AS1)
XM_011511729.1:c.106610G>A (TTN) XP_011510031.1:p.Ser35537Asn
XM_011511730.1:c.80504G>A (TTN) XP_011510032.1:p.Ser26835Asn
XM_011511731.1:c.80363G>A (TTN) XP_011510033.1:p.Ser26788Asn
XM_017004819.1:c.106406G>A (TTN) XP_016860308.1:p.Ser35469Asn
XM_017004820.1:c.101804G>A (TTN) XP_016860309.1:p.Ser33935Asn
XM_017004821.1:c.101801G>A (TTN) XP_016860310.1:p.Ser33934Asn
XM_017004822.1:c.98843G>A (TTN) XP_016860311.1:p.Ser32948Asn
XM_017004823.1:c.80459G>A (TTN) XP_016860312.1:p.Ser26820Asn
XM_024453094.1:c.101954G>A (TTN) XP_024308862.1:p.Ser33985Asn
XM_024453095.1:c.101951G>A (TTN) XP_024308863.1:p.Ser33984Asn
XM_024453096.1:c.101384G>A (TTN) XP_024308864.1:p.Ser33795Asn
XM_024453097.1:c.98726G>A (TTN) XP_024308865.1:p.Ser32909Asn
XM_024453098.1:c.98645G>A (TTN) XP_024308866.1:p.Ser32882Asn
XM_024453099.1:c.80408G>A (TTN) XP_024308867.1:p.Ser26803Asn
XM_024453100.1:c.70262G>A (TTN) XP_024308868.1:p.Ser23421Asn