Canonical Allele Identifier: CA349405784

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530247A>T , CM000664.2:g.178530247A>T GRCh38
NC_000002.11:g.179394974A>T , CM000664.1:g.179394974A>T GRCh37
NC_000002.10:g.179103220A>T NCBI36
NG_011618.3:g.305556T>A , LRG_391:g.305556T>A
NG_051363.1:g.12421A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98664T>A (TTN) ENSP00000343764.6:p.Asp32888Glu
ENST00000342175.11:c.79749T>A (TTN) ENSP00000340554.6:p.Asp26583Glu
ENST00000359218.10:c.79548T>A (TTN) ENSP00000352154.5:p.Asp26516Glu
ENST00000342175.10:c.79749T>A (TTN) ENSP00000340554.6:p.Asp26583Glu
ENST00000342992.10:c.98664T>A (TTN) ENSP00000343764.6:p.Asp32888Glu
ENST00000359218.9:c.79548T>A (TTN) ENSP00000352154.5:p.Asp26516Glu
ENST00000460472.6:c.79173T>A (TTN) ENSP00000434586.1:p.Asp26391Glu
ENST00000589042.5:c.106368T>A (TTN) MANE Select ENSP00000467141.1:p.Asp35456Glu
ENST00000591111.5:c.101445T>A (TTN) ENSP00000465570.1:p.Asp33815Glu
ENST00000615779.4:c.101445T>A (TTN) ENSP00000483597.1:p.Asp33815Glu
NM_001256850.1:c.101445T>A (TTN) NP_001243779.1:p.Asp33815Glu
NM_001267550.2:c.106368T>A (TTN) MANE Select NP_001254479.2:p.Asp35456Glu
NM_003319.4:c.79173T>A (TTN) NP_003310.4:p.Asp26391Glu
NM_133378.4:c.98664T>A (TTN) NP_596869.4:p.Asp32888Glu
NM_133432.3:c.79548T>A (TTN) NP_597676.3:p.Asp26516Glu
NM_133437.4:c.79749T>A (TTN) NP_597681.4:p.Asp26583Glu
NR_038271.1:n.446+6611A>T (TTN-AS1)
NR_038272.1:n.220-5485A>T (TTN-AS1)
XM_011511729.1:c.105465T>A (TTN) XP_011510031.1:p.Asp35155Glu
XM_011511730.1:c.79359T>A (TTN) XP_011510032.1:p.Asp26453Glu
XM_011511731.1:c.79218T>A (TTN) XP_011510033.1:p.Asp26406Glu
XM_017004819.1:c.105261T>A (TTN) XP_016860308.1:p.Asp35087Glu
XM_017004820.1:c.100659T>A (TTN) XP_016860309.1:p.Asp33553Glu
XM_017004821.1:c.100656T>A (TTN) XP_016860310.1:p.Asp33552Glu
XM_017004822.1:c.97698T>A (TTN) XP_016860311.1:p.Asp32566Glu
XM_017004823.1:c.79314T>A (TTN) XP_016860312.1:p.Asp26438Glu
XM_024453094.1:c.100809T>A (TTN) XP_024308862.1:p.Asp33603Glu
XM_024453095.1:c.100806T>A (TTN) XP_024308863.1:p.Asp33602Glu
XM_024453096.1:c.100239T>A (TTN) XP_024308864.1:p.Asp33413Glu
XM_024453097.1:c.97581T>A (TTN) XP_024308865.1:p.Asp32527Glu
XM_024453098.1:c.97500T>A (TTN) XP_024308866.1:p.Asp32500Glu
XM_024453099.1:c.79263T>A (TTN) XP_024308867.1:p.Asp26421Glu
XM_024453100.1:c.69117T>A (TTN) XP_024308868.1:p.Asp23039Glu