Canonical Allele Identifier: CA349435831

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178540219C>A , CM000664.2:g.178540219C>A GRCh38
NC_000002.11:g.179404946C>A , CM000664.1:g.179404946C>A GRCh37
NC_000002.10:g.179113192C>A NCBI36
NG_011618.3:g.295584G>T , LRG_391:g.295584G>T
NG_051363.1:g.22393C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.90243G>T (TTN) ENSP00000343764.6:p.Lys30081Asn
ENST00000342175.11:c.71328G>T (TTN) ENSP00000340554.6:p.Lys23776Asn
ENST00000359218.10:c.71127G>T (TTN) ENSP00000352154.5:p.Lys23709Asn
ENST00000342175.10:c.71328G>T (TTN) ENSP00000340554.6:p.Lys23776Asn
ENST00000342992.10:c.90243G>T (TTN) ENSP00000343764.6:p.Lys30081Asn
ENST00000359218.9:c.71127G>T (TTN) ENSP00000352154.5:p.Lys23709Asn
ENST00000460472.6:c.70752G>T (TTN) ENSP00000434586.1:p.Lys23584Asn
ENST00000589042.5:c.97947G>T (TTN) MANE Select ENSP00000467141.1:p.Lys32649Asn
ENST00000591111.5:c.93024G>T (TTN) ENSP00000465570.1:p.Lys31008Asn
ENST00000615779.4:c.93024G>T (TTN) ENSP00000483597.1:p.Lys31008Asn
NM_001256850.1:c.93024G>T (TTN) NP_001243779.1:p.Lys31008Asn
NM_001267550.2:c.97947G>T (TTN) MANE Select NP_001254479.2:p.Lys32649Asn
NM_003319.4:c.70752G>T (TTN) NP_003310.4:p.Lys23584Asn
NM_133378.4:c.90243G>T (TTN) NP_596869.4:p.Lys30081Asn
NM_133432.3:c.71127G>T (TTN) NP_597676.3:p.Lys23709Asn
NM_133437.4:c.71328G>T (TTN) NP_597681.4:p.Lys23776Asn
NR_038271.1:n.446+16583C>A (TTN-AS1)
NR_038272.1:n.1903+50C>A (TTN-AS1)
XM_011511729.1:c.97044G>T (TTN) XP_011510031.1:p.Lys32348Asn
XM_011511730.1:c.70938G>T (TTN) XP_011510032.1:p.Lys23646Asn
XM_011511731.1:c.70797G>T (TTN) XP_011510033.1:p.Lys23599Asn
XM_017004819.1:c.96840G>T (TTN) XP_016860308.1:p.Lys32280Asn
XM_017004820.1:c.92238G>T (TTN) XP_016860309.1:p.Lys30746Asn
XM_017004821.1:c.92235G>T (TTN) XP_016860310.1:p.Lys30745Asn
XM_017004822.1:c.89277G>T (TTN) XP_016860311.1:p.Lys29759Asn
XM_017004823.1:c.70893G>T (TTN) XP_016860312.1:p.Lys23631Asn
XM_024453094.1:c.92388G>T (TTN) XP_024308862.1:p.Lys30796Asn
XM_024453095.1:c.92385G>T (TTN) XP_024308863.1:p.Lys30795Asn
XM_024453096.1:c.91818G>T (TTN) XP_024308864.1:p.Lys30606Asn
XM_024453097.1:c.89160G>T (TTN) XP_024308865.1:p.Lys29720Asn
XM_024453098.1:c.89079G>T (TTN) XP_024308866.1:p.Lys29693Asn
XM_024453099.1:c.70842G>T (TTN) XP_024308867.1:p.Lys23614Asn
XM_024453100.1:c.60696G>T (TTN) XP_024308868.1:p.Lys20232Asn