Canonical Allele Identifier: CA349411003
Community Standard Title: NM_001267550.2(TTN):c.104753T>A (p.Leu34918Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531862A>T , CM000664.2:g.178531862A>T GRCh38
NC_000002.11:g.179396589A>T , CM000664.1:g.179396589A>T GRCh37
NC_000002.10:g.179104835A>T NCBI36
NG_011618.3:g.303941T>A , LRG_391:g.303941T>A
NG_051363.1:g.14036A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104753T>A (TTN) MANE Select NP_001254479.2:p.Leu34918Ter
ENST00000589042.5:c.104753T>A (TTN) MANE Select ENSP00000467141.1:p.Leu34918Ter
NM_001256850.1:c.99830T>A (TTN) NP_001243779.1:p.Leu33277Ter
NM_003319.4:c.77558T>A (TTN) NP_003310.4:p.Leu25853Ter
NM_133378.4:c.97049T>A (TTN) NP_596869.4:p.Leu32350Ter
NM_133432.3:c.77933T>A (TTN) NP_597676.3:p.Leu25978Ter
NM_133437.4:c.78134T>A (TTN) NP_597681.4:p.Leu26045Ter
NR_038271.1:n.446+8226A>T (TTN-AS1)
NR_038272.1:n.220-3870A>T (TTN-AS1)
ENST00000342175.10:c.78134T>A (TTN) ENSP00000340554.6:p.Leu26045Ter
ENST00000342175.11:c.78134T>A (TTN) ENSP00000340554.6:p.Leu26045Ter
ENST00000342992.10:c.97049T>A (TTN) ENSP00000343764.6:p.Leu32350Ter
ENST00000342992.11:c.97049T>A (TTN) ENSP00000343764.6:p.Leu32350Ter
ENST00000359218.10:c.77933T>A (TTN) ENSP00000352154.5:p.Leu25978Ter
ENST00000359218.9:c.77933T>A (TTN) ENSP00000352154.5:p.Leu25978Ter
ENST00000460472.6:c.77558T>A (TTN) ENSP00000434586.1:p.Leu25853Ter
ENST00000591111.5:c.99830T>A (TTN) ENSP00000465570.1:p.Leu33277Ter
ENST00000615779.4:c.99830T>A (TTN) ENSP00000483597.1:p.Leu33277Ter
XM_011511729.1:c.103850T>A (TTN) XP_011510031.1:p.Leu34617Ter
XM_011511730.1:c.77744T>A (TTN) XP_011510032.1:p.Leu25915Ter
XM_011511731.1:c.77603T>A (TTN) XP_011510033.1:p.Leu25868Ter
XM_017004819.1:c.103646T>A (TTN) XP_016860308.1:p.Leu34549Ter
XM_017004820.1:c.99044T>A (TTN) XP_016860309.1:p.Leu33015Ter
XM_017004821.1:c.99041T>A (TTN) XP_016860310.1:p.Leu33014Ter
XM_017004822.1:c.96083T>A (TTN) XP_016860311.1:p.Leu32028Ter
XM_017004823.1:c.77699T>A (TTN) XP_016860312.1:p.Leu25900Ter
XM_024453094.1:c.99194T>A (TTN) XP_024308862.1:p.Leu33065Ter
XM_024453095.1:c.99191T>A (TTN) XP_024308863.1:p.Leu33064Ter
XM_024453096.1:c.98624T>A (TTN) XP_024308864.1:p.Leu32875Ter
XM_024453097.1:c.95966T>A (TTN) XP_024308865.1:p.Leu31989Ter
XM_024453098.1:c.95885T>A (TTN) XP_024308866.1:p.Leu31962Ter
XM_024453099.1:c.77648T>A (TTN) XP_024308867.1:p.Leu25883Ter
XM_024453100.1:c.67502T>A (TTN) XP_024308868.1:p.Leu22501Ter