Canonical Allele Identifier: CA349519028

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553640C>T , CM000664.2:g.178553640C>T GRCh38
NC_000002.11:g.179418367C>T , CM000664.1:g.179418367C>T GRCh37
NC_000002.10:g.179126613C>T NCBI36
NG_011618.3:g.282163G>A , LRG_391:g.282163G>A
NG_051363.1:g.35814C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.81661G>A (TTN) ENSP00000343764.6:p.Glu27221Lys
ENST00000342175.11:c.62746G>A (TTN) ENSP00000340554.6:p.Glu20916Lys
ENST00000359218.10:c.62545G>A (TTN) ENSP00000352154.5:p.Glu20849Lys
ENST00000342175.10:c.62746G>A (TTN) ENSP00000340554.6:p.Glu20916Lys
ENST00000342992.10:c.81661G>A (TTN) ENSP00000343764.6:p.Glu27221Lys
ENST00000359218.9:c.62545G>A (TTN) ENSP00000352154.5:p.Glu20849Lys
ENST00000460472.6:c.62170G>A (TTN) ENSP00000434586.1:p.Glu20724Lys
ENST00000589042.5:c.89365G>A (TTN) MANE Select ENSP00000467141.1:p.Glu29789Lys
ENST00000591111.5:c.84442G>A (TTN) ENSP00000465570.1:p.Glu28148Lys
ENST00000615779.4:c.84442G>A (TTN) ENSP00000483597.1:p.Glu28148Lys
NM_001256850.1:c.84442G>A (TTN) NP_001243779.1:p.Glu28148Lys
NM_001267550.2:c.89365G>A (TTN) MANE Select NP_001254479.2:p.Glu29789Lys
NM_003319.4:c.62170G>A (TTN) NP_003310.4:p.Glu20724Lys
NM_133378.4:c.81661G>A (TTN) NP_596869.4:p.Glu27221Lys
NM_133432.3:c.62545G>A (TTN) NP_597676.3:p.Glu20849Lys
NM_133437.4:c.62746G>A (TTN) NP_597681.4:p.Glu20916Lys
NR_038271.1:n.447-17660C>T (TTN-AS1)
NR_038272.1:n.2043+11279C>T (TTN-AS1)
XM_011511729.1:c.88462G>A (TTN) XP_011510031.1:p.Glu29488Lys
XM_011511730.1:c.62356G>A (TTN) XP_011510032.1:p.Glu20786Lys
XM_011511731.1:c.62215G>A (TTN) XP_011510033.1:p.Glu20739Lys
XM_017004819.1:c.88258G>A (TTN) XP_016860308.1:p.Glu29420Lys
XM_017004820.1:c.83656G>A (TTN) XP_016860309.1:p.Glu27886Lys
XM_017004821.1:c.83653G>A (TTN) XP_016860310.1:p.Glu27885Lys
XM_017004822.1:c.80695G>A (TTN) XP_016860311.1:p.Glu26899Lys
XM_017004823.1:c.62311G>A (TTN) XP_016860312.1:p.Glu20771Lys
XM_024453094.1:c.83806G>A (TTN) XP_024308862.1:p.Glu27936Lys
XM_024453095.1:c.83803G>A (TTN) XP_024308863.1:p.Glu27935Lys
XM_024453096.1:c.83236G>A (TTN) XP_024308864.1:p.Glu27746Lys
XM_024453097.1:c.80578G>A (TTN) XP_024308865.1:p.Glu26860Lys
XM_024453098.1:c.80497G>A (TTN) XP_024308866.1:p.Glu26833Lys
XM_024453099.1:c.62260G>A (TTN) XP_024308867.1:p.Glu20754Lys
XM_024453100.1:c.52114G>A (TTN) XP_024308868.1:p.Glu17372Lys