Canonical Allele Identifier: CA1990042

Linked Data

ClinVar Variation Id: 229517
dbSNP Id: rs192468365

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570642C>T , CM000664.2:g.178570642C>T GRCh38
NC_000002.11:g.179435369C>T , CM000664.1:g.179435369C>T GRCh37
NC_000002.10:g.179143615C>T NCBI36
NG_011618.3:g.265161G>A , LRG_391:g.265161G>A
NG_051363.1:g.52816C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.67786G>A (TTN) ENSP00000343764.6:p.Asp22596Asn
ENST00000342175.11:c.48871G>A (TTN) ENSP00000340554.6:p.Asp16291Asn
ENST00000359218.10:c.48670G>A (TTN) ENSP00000352154.5:p.Asp16224Asn
ENST00000342175.10:c.48871G>A (TTN) ENSP00000340554.6:p.Asp16291Asn
ENST00000342992.10:c.67786G>A (TTN) ENSP00000343764.6:p.Asp22596Asn
ENST00000359218.9:c.48670G>A (TTN) ENSP00000352154.5:p.Asp16224Asn
ENST00000460472.6:c.48295G>A (TTN) ENSP00000434586.1:p.Asp16099Asn
ENST00000589042.5:c.75490G>A (TTN) MANE Select ENSP00000467141.1:p.Asp25164Asn
ENST00000591111.5:c.70567G>A (TTN) ENSP00000465570.1:p.Asp23523Asn
ENST00000615779.4:c.70567G>A (TTN) ENSP00000483597.1:p.Asp23523Asn
NM_001256850.1:c.70567G>A (TTN) NP_001243779.1:p.Asp23523Asn
NM_001267550.2:c.75490G>A (TTN) MANE Select NP_001254479.2:p.Asp25164Asn
NM_003319.4:c.48295G>A (TTN) NP_003310.4:p.Asp16099Asn
NM_133378.4:c.67786G>A (TTN) NP_596869.4:p.Asp22596Asn
NM_133432.3:c.48670G>A (TTN) NP_597676.3:p.Asp16224Asn
NM_133437.4:c.48871G>A (TTN) NP_597681.4:p.Asp16291Asn
NR_038271.1:n.447-658C>T (TTN-AS1)
NR_038272.1:n.2044-11930C>T (TTN-AS1)
XM_011511729.1:c.74587G>A (TTN) XP_011510031.1:p.Asp24863Asn
XM_011511730.1:c.48481G>A (TTN) XP_011510032.1:p.Asp16161Asn
XM_011511731.1:c.48340G>A (TTN) XP_011510033.1:p.Asp16114Asn
XM_017004819.1:c.74383G>A (TTN) XP_016860308.1:p.Asp24795Asn
XM_017004820.1:c.69781G>A (TTN) XP_016860309.1:p.Asp23261Asn
XM_017004821.1:c.69778G>A (TTN) XP_016860310.1:p.Asp23260Asn
XM_017004822.1:c.66820G>A (TTN) XP_016860311.1:p.Asp22274Asn
XM_017004823.1:c.48436G>A (TTN) XP_016860312.1:p.Asp16146Asn
XM_024453094.1:c.69931G>A (TTN) XP_024308862.1:p.Asp23311Asn
XM_024453095.1:c.69928G>A (TTN) XP_024308863.1:p.Asp23310Asn
XM_024453096.1:c.69361G>A (TTN) XP_024308864.1:p.Asp23121Asn
XM_024453097.1:c.66703G>A (TTN) XP_024308865.1:p.Asp22235Asn
XM_024453098.1:c.66622G>A (TTN) XP_024308866.1:p.Asp22208Asn
XM_024453099.1:c.48385G>A (TTN) XP_024308867.1:p.Asp16129Asn
XM_024453100.1:c.38239G>A (TTN) XP_024308868.1:p.Asp12747Asn