Canonical Allele Identifier: CA349478978

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547640G>T , CM000664.2:g.178547640G>T GRCh38
NC_000002.11:g.179412367G>T , CM000664.1:g.179412367G>T GRCh37
NC_000002.10:g.179120613G>T NCBI36
NG_011618.3:g.288163C>A , LRG_391:g.288163C>A
NG_051363.1:g.29814G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.86282C>A (TTN) ENSP00000343764.6:p.Ser28761Ter
ENST00000342175.11:c.67367C>A (TTN) ENSP00000340554.6:p.Ser22456Ter
ENST00000359218.10:c.67166C>A (TTN) ENSP00000352154.5:p.Ser22389Ter
ENST00000342175.10:c.67367C>A (TTN) ENSP00000340554.6:p.Ser22456Ter
ENST00000342992.10:c.86282C>A (TTN) ENSP00000343764.6:p.Ser28761Ter
ENST00000359218.9:c.67166C>A (TTN) ENSP00000352154.5:p.Ser22389Ter
ENST00000460472.6:c.66791C>A (TTN) ENSP00000434586.1:p.Ser22264Ter
ENST00000589042.5:c.93986C>A (TTN) MANE Select ENSP00000467141.1:p.Ser31329Ter
ENST00000591111.5:c.89063C>A (TTN) ENSP00000465570.1:p.Ser29688Ter
ENST00000615779.4:c.89063C>A (TTN) ENSP00000483597.1:p.Ser29688Ter
NM_001256850.1:c.89063C>A (TTN) NP_001243779.1:p.Ser29688Ter
NM_001267550.2:c.93986C>A (TTN) MANE Select NP_001254479.2:p.Ser31329Ter
NM_003319.4:c.66791C>A (TTN) NP_003310.4:p.Ser22264Ter
NM_133378.4:c.86282C>A (TTN) NP_596869.4:p.Ser28761Ter
NM_133432.3:c.67166C>A (TTN) NP_597676.3:p.Ser22389Ter
NM_133437.4:c.67367C>A (TTN) NP_597681.4:p.Ser22456Ter
NR_038271.1:n.447-23660G>T (TTN-AS1)
NR_038272.1:n.2043+5279G>T (TTN-AS1)
XM_011511729.1:c.93083C>A (TTN) XP_011510031.1:p.Ser31028Ter
XM_011511730.1:c.66977C>A (TTN) XP_011510032.1:p.Ser22326Ter
XM_011511731.1:c.66836C>A (TTN) XP_011510033.1:p.Ser22279Ter
XM_017004819.1:c.92879C>A (TTN) XP_016860308.1:p.Ser30960Ter
XM_017004820.1:c.88277C>A (TTN) XP_016860309.1:p.Ser29426Ter
XM_017004821.1:c.88274C>A (TTN) XP_016860310.1:p.Ser29425Ter
XM_017004822.1:c.85316C>A (TTN) XP_016860311.1:p.Ser28439Ter
XM_017004823.1:c.66932C>A (TTN) XP_016860312.1:p.Ser22311Ter
XM_024453094.1:c.88427C>A (TTN) XP_024308862.1:p.Ser29476Ter
XM_024453095.1:c.88424C>A (TTN) XP_024308863.1:p.Ser29475Ter
XM_024453096.1:c.87857C>A (TTN) XP_024308864.1:p.Ser29286Ter
XM_024453097.1:c.85199C>A (TTN) XP_024308865.1:p.Ser28400Ter
XM_024453098.1:c.85118C>A (TTN) XP_024308866.1:p.Ser28373Ter
XM_024453099.1:c.66881C>A (TTN) XP_024308867.1:p.Ser22294Ter
XM_024453100.1:c.56735C>A (TTN) XP_024308868.1:p.Ser18912Ter