Canonical Allele Identifier: CA349411764

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532192T>C , CM000664.2:g.178532192T>C GRCh38
NC_000002.11:g.179396919T>C , CM000664.1:g.179396919T>C GRCh37
NC_000002.10:g.179105165T>C NCBI36
NG_011618.3:g.303611A>G , LRG_391:g.303611A>G
NG_051363.1:g.14366T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96719A>G (TTN) ENSP00000343764.6:p.Glu32240Gly
ENST00000342175.11:c.77804A>G (TTN) ENSP00000340554.6:p.Glu25935Gly
ENST00000359218.10:c.77603A>G (TTN) ENSP00000352154.5:p.Glu25868Gly
ENST00000342175.10:c.77804A>G (TTN) ENSP00000340554.6:p.Glu25935Gly
ENST00000342992.10:c.96719A>G (TTN) ENSP00000343764.6:p.Glu32240Gly
ENST00000359218.9:c.77603A>G (TTN) ENSP00000352154.5:p.Glu25868Gly
ENST00000460472.6:c.77228A>G (TTN) ENSP00000434586.1:p.Glu25743Gly
ENST00000589042.5:c.104423A>G (TTN) MANE Select ENSP00000467141.1:p.Glu34808Gly
ENST00000591111.5:c.99500A>G (TTN) ENSP00000465570.1:p.Glu33167Gly
ENST00000615779.4:c.99500A>G (TTN) ENSP00000483597.1:p.Glu33167Gly
NM_001256850.1:c.99500A>G (TTN) NP_001243779.1:p.Glu33167Gly
NM_001267550.2:c.104423A>G (TTN) MANE Select NP_001254479.2:p.Glu34808Gly
NM_003319.4:c.77228A>G (TTN) NP_003310.4:p.Glu25743Gly
NM_133378.4:c.96719A>G (TTN) NP_596869.4:p.Glu32240Gly
NM_133432.3:c.77603A>G (TTN) NP_597676.3:p.Glu25868Gly
NM_133437.4:c.77804A>G (TTN) NP_597681.4:p.Glu25935Gly
NR_038271.1:n.446+8556T>C (TTN-AS1)
NR_038272.1:n.220-3540T>C (TTN-AS1)
XM_011511729.1:c.103520A>G (TTN) XP_011510031.1:p.Glu34507Gly
XM_011511730.1:c.77414A>G (TTN) XP_011510032.1:p.Glu25805Gly
XM_011511731.1:c.77273A>G (TTN) XP_011510033.1:p.Glu25758Gly
XM_017004819.1:c.103316A>G (TTN) XP_016860308.1:p.Glu34439Gly
XM_017004820.1:c.98714A>G (TTN) XP_016860309.1:p.Glu32905Gly
XM_017004821.1:c.98711A>G (TTN) XP_016860310.1:p.Glu32904Gly
XM_017004822.1:c.95753A>G (TTN) XP_016860311.1:p.Glu31918Gly
XM_017004823.1:c.77369A>G (TTN) XP_016860312.1:p.Glu25790Gly
XM_024453094.1:c.98864A>G (TTN) XP_024308862.1:p.Glu32955Gly
XM_024453095.1:c.98861A>G (TTN) XP_024308863.1:p.Glu32954Gly
XM_024453096.1:c.98294A>G (TTN) XP_024308864.1:p.Glu32765Gly
XM_024453097.1:c.95636A>G (TTN) XP_024308865.1:p.Glu31879Gly
XM_024453098.1:c.95555A>G (TTN) XP_024308866.1:p.Glu31852Gly
XM_024453099.1:c.77318A>G (TTN) XP_024308867.1:p.Glu25773Gly
XM_024453100.1:c.67172A>G (TTN) XP_024308868.1:p.Glu22391Gly