Canonical Allele Identifier: CA349601380

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567400G>C , CM000664.2:g.178567400G>C GRCh38
NC_000002.11:g.179432127G>C , CM000664.1:g.179432127G>C GRCh37
NC_000002.10:g.179140373G>C NCBI36
NG_011618.3:g.268403C>G , LRG_391:g.268403C>G
NG_051363.1:g.49574G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71028C>G (TTN) ENSP00000343764.6:p.Asn23676Lys
ENST00000342175.11:c.52113C>G (TTN) ENSP00000340554.6:p.Asn17371Lys
ENST00000359218.10:c.51912C>G (TTN) ENSP00000352154.5:p.Asn17304Lys
ENST00000342175.10:c.52113C>G (TTN) ENSP00000340554.6:p.Asn17371Lys
ENST00000342992.10:c.71028C>G (TTN) ENSP00000343764.6:p.Asn23676Lys
ENST00000359218.9:c.51912C>G (TTN) ENSP00000352154.5:p.Asn17304Lys
ENST00000460472.6:c.51537C>G (TTN) ENSP00000434586.1:p.Asn17179Lys
ENST00000589042.5:c.78732C>G (TTN) MANE Select ENSP00000467141.1:p.Asn26244Lys
ENST00000591111.5:c.73809C>G (TTN) ENSP00000465570.1:p.Asn24603Lys
ENST00000615779.4:c.73809C>G (TTN) ENSP00000483597.1:p.Asn24603Lys
NM_001256850.1:c.73809C>G (TTN) NP_001243779.1:p.Asn24603Lys
NM_001267550.2:c.78732C>G (TTN) MANE Select NP_001254479.2:p.Asn26244Lys
NM_003319.4:c.51537C>G (TTN) NP_003310.4:p.Asn17179Lys
NM_133378.4:c.71028C>G (TTN) NP_596869.4:p.Asn23676Lys
NM_133432.3:c.51912C>G (TTN) NP_597676.3:p.Asn17304Lys
NM_133437.4:c.52113C>G (TTN) NP_597681.4:p.Asn17371Lys
NR_038271.1:n.447-3900G>C (TTN-AS1)
NR_038272.1:n.2044-15172G>C (TTN-AS1)
XM_011511729.1:c.77829C>G (TTN) XP_011510031.1:p.Asn25943Lys
XM_011511730.1:c.51723C>G (TTN) XP_011510032.1:p.Asn17241Lys
XM_011511731.1:c.51582C>G (TTN) XP_011510033.1:p.Asn17194Lys
XM_017004819.1:c.77625C>G (TTN) XP_016860308.1:p.Asn25875Lys
XM_017004820.1:c.73023C>G (TTN) XP_016860309.1:p.Asn24341Lys
XM_017004821.1:c.73020C>G (TTN) XP_016860310.1:p.Asn24340Lys
XM_017004822.1:c.70062C>G (TTN) XP_016860311.1:p.Asn23354Lys
XM_017004823.1:c.51678C>G (TTN) XP_016860312.1:p.Asn17226Lys
XM_024453094.1:c.73173C>G (TTN) XP_024308862.1:p.Asn24391Lys
XM_024453095.1:c.73170C>G (TTN) XP_024308863.1:p.Asn24390Lys
XM_024453096.1:c.72603C>G (TTN) XP_024308864.1:p.Asn24201Lys
XM_024453097.1:c.69945C>G (TTN) XP_024308865.1:p.Asn23315Lys
XM_024453098.1:c.69864C>G (TTN) XP_024308866.1:p.Asn23288Lys
XM_024453099.1:c.51627C>G (TTN) XP_024308867.1:p.Asn17209Lys
XM_024453100.1:c.41481C>G (TTN) XP_024308868.1:p.Asn13827Lys