Canonical Allele Identifier: CA349489159

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548668G>T , CM000664.2:g.178548668G>T GRCh38
NC_000002.11:g.179413395G>T , CM000664.1:g.179413395G>T GRCh37
NC_000002.10:g.179121641G>T NCBI36
NG_011618.3:g.287135C>A , LRG_391:g.287135C>A
NG_051363.1:g.30842G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85254C>A (TTN) ENSP00000343764.6:p.Cys28418Ter
ENST00000342175.11:c.66339C>A (TTN) ENSP00000340554.6:p.Cys22113Ter
ENST00000359218.10:c.66138C>A (TTN) ENSP00000352154.5:p.Cys22046Ter
ENST00000342175.10:c.66339C>A (TTN) ENSP00000340554.6:p.Cys22113Ter
ENST00000342992.10:c.85254C>A (TTN) ENSP00000343764.6:p.Cys28418Ter
ENST00000359218.9:c.66138C>A (TTN) ENSP00000352154.5:p.Cys22046Ter
ENST00000460472.6:c.65763C>A (TTN) ENSP00000434586.1:p.Cys21921Ter
ENST00000589042.5:c.92958C>A (TTN) MANE Select ENSP00000467141.1:p.Cys30986Ter
ENST00000591111.5:c.88035C>A (TTN) ENSP00000465570.1:p.Cys29345Ter
ENST00000615779.4:c.88035C>A (TTN) ENSP00000483597.1:p.Cys29345Ter
NM_001256850.1:c.88035C>A (TTN) NP_001243779.1:p.Cys29345Ter
NM_001267550.2:c.92958C>A (TTN) MANE Select NP_001254479.2:p.Cys30986Ter
NM_003319.4:c.65763C>A (TTN) NP_003310.4:p.Cys21921Ter
NM_133378.4:c.85254C>A (TTN) NP_596869.4:p.Cys28418Ter
NM_133432.3:c.66138C>A (TTN) NP_597676.3:p.Cys22046Ter
NM_133437.4:c.66339C>A (TTN) NP_597681.4:p.Cys22113Ter
NR_038271.1:n.447-22632G>T (TTN-AS1)
NR_038272.1:n.2043+6307G>T (TTN-AS1)
XM_011511729.1:c.92055C>A (TTN) XP_011510031.1:p.Cys30685Ter
XM_011511730.1:c.65949C>A (TTN) XP_011510032.1:p.Cys21983Ter
XM_011511731.1:c.65808C>A (TTN) XP_011510033.1:p.Cys21936Ter
XM_017004819.1:c.91851C>A (TTN) XP_016860308.1:p.Cys30617Ter
XM_017004820.1:c.87249C>A (TTN) XP_016860309.1:p.Cys29083Ter
XM_017004821.1:c.87246C>A (TTN) XP_016860310.1:p.Cys29082Ter
XM_017004822.1:c.84288C>A (TTN) XP_016860311.1:p.Cys28096Ter
XM_017004823.1:c.65904C>A (TTN) XP_016860312.1:p.Cys21968Ter
XM_024453094.1:c.87399C>A (TTN) XP_024308862.1:p.Cys29133Ter
XM_024453095.1:c.87396C>A (TTN) XP_024308863.1:p.Cys29132Ter
XM_024453096.1:c.86829C>A (TTN) XP_024308864.1:p.Cys28943Ter
XM_024453097.1:c.84171C>A (TTN) XP_024308865.1:p.Cys28057Ter
XM_024453098.1:c.84090C>A (TTN) XP_024308866.1:p.Cys28030Ter
XM_024453099.1:c.65853C>A (TTN) XP_024308867.1:p.Cys21951Ter
XM_024453100.1:c.55707C>A (TTN) XP_024308868.1:p.Cys18569Ter