Canonical Allele Identifier: CA1988487
Community Standard Title: NM_001267550.2(TTN):c.86528T>G (p.Leu28843Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559604A>C , CM000664.2:g.178559604A>C GRCh38
NC_000002.11:g.179424331A>C , CM000664.1:g.179424331A>C GRCh37
NC_000002.10:g.179132577A>C NCBI36
NG_011618.3:g.276199T>G , LRG_391:g.276199T>G
NG_051363.1:g.41778A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.86528T>G (TTN) MANE Select NP_001254479.2:p.Leu28843Ter
ENST00000589042.5:c.86528T>G (TTN) MANE Select ENSP00000467141.1:p.Leu28843Ter
NM_001256850.1:c.81605T>G (TTN) NP_001243779.1:p.Leu27202Ter
NM_003319.4:c.59333T>G (TTN) NP_003310.4:p.Leu19778Ter
NM_133378.4:c.78824T>G (TTN) NP_596869.4:p.Leu26275Ter
NM_133432.3:c.59708T>G (TTN) NP_597676.3:p.Leu19903Ter
NM_133437.4:c.59909T>G (TTN) NP_597681.4:p.Leu19970Ter
NR_038271.1:n.447-11696A>C (TTN-AS1)
NR_038272.1:n.2043+17243A>C (TTN-AS1)
ENST00000342175.10:c.59909T>G (TTN) ENSP00000340554.6:p.Leu19970Ter
ENST00000342175.11:c.59909T>G (TTN) ENSP00000340554.6:p.Leu19970Ter
ENST00000342992.10:c.78824T>G (TTN) ENSP00000343764.6:p.Leu26275Ter
ENST00000342992.11:c.78824T>G (TTN) ENSP00000343764.6:p.Leu26275Ter
ENST00000359218.10:c.59708T>G (TTN) ENSP00000352154.5:p.Leu19903Ter
ENST00000359218.9:c.59708T>G (TTN) ENSP00000352154.5:p.Leu19903Ter
ENST00000460472.6:c.59333T>G (TTN) ENSP00000434586.1:p.Leu19778Ter
ENST00000591111.5:c.81605T>G (TTN) ENSP00000465570.1:p.Leu27202Ter
ENST00000615779.4:c.81605T>G (TTN) ENSP00000483597.1:p.Leu27202Ter
XM_011511729.1:c.85625T>G (TTN) XP_011510031.1:p.Leu28542Ter
XM_011511730.1:c.59519T>G (TTN) XP_011510032.1:p.Leu19840Ter
XM_011511731.1:c.59378T>G (TTN) XP_011510033.1:p.Leu19793Ter
XM_017004819.1:c.85421T>G (TTN) XP_016860308.1:p.Leu28474Ter
XM_017004820.1:c.80819T>G (TTN) XP_016860309.1:p.Leu26940Ter
XM_017004821.1:c.80816T>G (TTN) XP_016860310.1:p.Leu26939Ter
XM_017004822.1:c.77858T>G (TTN) XP_016860311.1:p.Leu25953Ter
XM_017004823.1:c.59474T>G (TTN) XP_016860312.1:p.Leu19825Ter
XM_024453094.1:c.80969T>G (TTN) XP_024308862.1:p.Leu26990Ter
XM_024453095.1:c.80966T>G (TTN) XP_024308863.1:p.Leu26989Ter
XM_024453096.1:c.80399T>G (TTN) XP_024308864.1:p.Leu26800Ter
XM_024453097.1:c.77741T>G (TTN) XP_024308865.1:p.Leu25914Ter
XM_024453098.1:c.77660T>G (TTN) XP_024308866.1:p.Leu25887Ter
XM_024453099.1:c.59423T>G (TTN) XP_024308867.1:p.Leu19808Ter
XM_024453100.1:c.49277T>G (TTN) XP_024308868.1:p.Leu16426Ter