Canonical Allele Identifier: CA349427856

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537600T>A , CM000664.2:g.178537600T>A GRCh38
NC_000002.11:g.179402327T>A , CM000664.1:g.179402327T>A GRCh37
NC_000002.10:g.179110573T>A NCBI36
NG_011618.3:g.298203A>T , LRG_391:g.298203A>T
NG_051363.1:g.19774T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91903A>T (TTN) ENSP00000343764.6:p.Lys30635Ter
ENST00000342175.11:c.72988A>T (TTN) ENSP00000340554.6:p.Lys24330Ter
ENST00000359218.10:c.72787A>T (TTN) ENSP00000352154.5:p.Lys24263Ter
ENST00000342175.10:c.72988A>T (TTN) ENSP00000340554.6:p.Lys24330Ter
ENST00000342992.10:c.91903A>T (TTN) ENSP00000343764.6:p.Lys30635Ter
ENST00000359218.9:c.72787A>T (TTN) ENSP00000352154.5:p.Lys24263Ter
ENST00000460472.6:c.72412A>T (TTN) ENSP00000434586.1:p.Lys24138Ter
ENST00000589042.5:c.99607A>T (TTN) MANE Select ENSP00000467141.1:p.Lys33203Ter
ENST00000591111.5:c.94684A>T (TTN) ENSP00000465570.1:p.Lys31562Ter
ENST00000615779.4:c.94684A>T (TTN) ENSP00000483597.1:p.Lys31562Ter
NM_001256850.1:c.94684A>T (TTN) NP_001243779.1:p.Lys31562Ter
NM_001267550.2:c.99607A>T (TTN) MANE Select NP_001254479.2:p.Lys33203Ter
NM_003319.4:c.72412A>T (TTN) NP_003310.4:p.Lys24138Ter
NM_133378.4:c.91903A>T (TTN) NP_596869.4:p.Lys30635Ter
NM_133432.3:c.72787A>T (TTN) NP_597676.3:p.Lys24263Ter
NM_133437.4:c.72988A>T (TTN) NP_597681.4:p.Lys24330Ter
NR_038271.1:n.446+13964T>A (TTN-AS1)
NR_038272.1:n.556T>A (TTN-AS1)
XM_011511729.1:c.98704A>T (TTN) XP_011510031.1:p.Lys32902Ter
XM_011511730.1:c.72598A>T (TTN) XP_011510032.1:p.Lys24200Ter
XM_011511731.1:c.72457A>T (TTN) XP_011510033.1:p.Lys24153Ter
XM_017004819.1:c.98500A>T (TTN) XP_016860308.1:p.Lys32834Ter
XM_017004820.1:c.93898A>T (TTN) XP_016860309.1:p.Lys31300Ter
XM_017004821.1:c.93895A>T (TTN) XP_016860310.1:p.Lys31299Ter
XM_017004822.1:c.90937A>T (TTN) XP_016860311.1:p.Lys30313Ter
XM_017004823.1:c.72553A>T (TTN) XP_016860312.1:p.Lys24185Ter
XM_024453094.1:c.94048A>T (TTN) XP_024308862.1:p.Lys31350Ter
XM_024453095.1:c.94045A>T (TTN) XP_024308863.1:p.Lys31349Ter
XM_024453096.1:c.93478A>T (TTN) XP_024308864.1:p.Lys31160Ter
XM_024453097.1:c.90820A>T (TTN) XP_024308865.1:p.Lys30274Ter
XM_024453098.1:c.90739A>T (TTN) XP_024308866.1:p.Lys30247Ter
XM_024453099.1:c.72502A>T (TTN) XP_024308867.1:p.Lys24168Ter
XM_024453100.1:c.62356A>T (TTN) XP_024308868.1:p.Lys20786Ter