Canonical Allele Identifier: CA349647771

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573866T>C , CM000664.2:g.178573866T>C GRCh38
NC_000002.11:g.179438593T>C , CM000664.1:g.179438593T>C GRCh37
NC_000002.10:g.179146839T>C NCBI36
NG_011618.3:g.261937A>G , LRG_391:g.261937A>G
NG_051363.1:g.56040T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64562A>G (TTN) ENSP00000343764.6:p.Asn21521Ser
ENST00000342175.11:c.45647A>G (TTN) ENSP00000340554.6:p.Asn15216Ser
ENST00000359218.10:c.45446A>G (TTN) ENSP00000352154.5:p.Asn15149Ser
ENST00000342175.10:c.45647A>G (TTN) ENSP00000340554.6:p.Asn15216Ser
ENST00000342992.10:c.64562A>G (TTN) ENSP00000343764.6:p.Asn21521Ser
ENST00000359218.9:c.45446A>G (TTN) ENSP00000352154.5:p.Asn15149Ser
ENST00000460472.6:c.45071A>G (TTN) ENSP00000434586.1:p.Asn15024Ser
ENST00000589042.5:c.72266A>G (TTN) MANE Select ENSP00000467141.1:p.Asn24089Ser
ENST00000591111.5:c.67343A>G (TTN) ENSP00000465570.1:p.Asn22448Ser
ENST00000615779.4:c.67343A>G (TTN) ENSP00000483597.1:p.Asn22448Ser
NM_001256850.1:c.67343A>G (TTN) NP_001243779.1:p.Asn22448Ser
NM_001267550.2:c.72266A>G (TTN) MANE Select NP_001254479.2:p.Asn24089Ser
NM_003319.4:c.45071A>G (TTN) NP_003310.4:p.Asn15024Ser
NM_133378.4:c.64562A>G (TTN) NP_596869.4:p.Asn21521Ser
NM_133432.3:c.45446A>G (TTN) NP_597676.3:p.Asn15149Ser
NM_133437.4:c.45647A>G (TTN) NP_597681.4:p.Asn15216Ser
NR_038271.1:n.596+2417T>C (TTN-AS1)
NR_038272.1:n.2044-8706T>C (TTN-AS1)
XM_011511729.1:c.71363A>G (TTN) XP_011510031.1:p.Asn23788Ser
XM_011511730.1:c.45257A>G (TTN) XP_011510032.1:p.Asn15086Ser
XM_011511731.1:c.45116A>G (TTN) XP_011510033.1:p.Asn15039Ser
XM_017004819.1:c.71159A>G (TTN) XP_016860308.1:p.Asn23720Ser
XM_017004820.1:c.66557A>G (TTN) XP_016860309.1:p.Asn22186Ser
XM_017004821.1:c.66554A>G (TTN) XP_016860310.1:p.Asn22185Ser
XM_017004822.1:c.63596A>G (TTN) XP_016860311.1:p.Asn21199Ser
XM_017004823.1:c.45212A>G (TTN) XP_016860312.1:p.Asn15071Ser
XM_024453094.1:c.66707A>G (TTN) XP_024308862.1:p.Asn22236Ser
XM_024453095.1:c.66704A>G (TTN) XP_024308863.1:p.Asn22235Ser
XM_024453096.1:c.66137A>G (TTN) XP_024308864.1:p.Asn22046Ser
XM_024453097.1:c.63479A>G (TTN) XP_024308865.1:p.Asn21160Ser
XM_024453098.1:c.63398A>G (TTN) XP_024308866.1:p.Asn21133Ser
XM_024453099.1:c.45161A>G (TTN) XP_024308867.1:p.Asn15054Ser
XM_024453100.1:c.35015A>G (TTN) XP_024308868.1:p.Asn11672Ser