Canonical Allele Identifier: CA349411619

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532138T>A , CM000664.2:g.178532138T>A GRCh38
NC_000002.11:g.179396865T>A , CM000664.1:g.179396865T>A GRCh37
NC_000002.10:g.179105111T>A NCBI36
NG_011618.3:g.303665A>T , LRG_391:g.303665A>T
NG_051363.1:g.14312T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96773A>T (TTN) ENSP00000343764.6:p.Gln32258Leu
ENST00000342175.11:c.77858A>T (TTN) ENSP00000340554.6:p.Gln25953Leu
ENST00000359218.10:c.77657A>T (TTN) ENSP00000352154.5:p.Gln25886Leu
ENST00000342175.10:c.77858A>T (TTN) ENSP00000340554.6:p.Gln25953Leu
ENST00000342992.10:c.96773A>T (TTN) ENSP00000343764.6:p.Gln32258Leu
ENST00000359218.9:c.77657A>T (TTN) ENSP00000352154.5:p.Gln25886Leu
ENST00000460472.6:c.77282A>T (TTN) ENSP00000434586.1:p.Gln25761Leu
ENST00000589042.5:c.104477A>T (TTN) MANE Select ENSP00000467141.1:p.Gln34826Leu
ENST00000591111.5:c.99554A>T (TTN) ENSP00000465570.1:p.Gln33185Leu
ENST00000615779.4:c.99554A>T (TTN) ENSP00000483597.1:p.Gln33185Leu
NM_001256850.1:c.99554A>T (TTN) NP_001243779.1:p.Gln33185Leu
NM_001267550.2:c.104477A>T (TTN) MANE Select NP_001254479.2:p.Gln34826Leu
NM_003319.4:c.77282A>T (TTN) NP_003310.4:p.Gln25761Leu
NM_133378.4:c.96773A>T (TTN) NP_596869.4:p.Gln32258Leu
NM_133432.3:c.77657A>T (TTN) NP_597676.3:p.Gln25886Leu
NM_133437.4:c.77858A>T (TTN) NP_597681.4:p.Gln25953Leu
NR_038271.1:n.446+8502T>A (TTN-AS1)
NR_038272.1:n.220-3594T>A (TTN-AS1)
XM_011511729.1:c.103574A>T (TTN) XP_011510031.1:p.Gln34525Leu
XM_011511730.1:c.77468A>T (TTN) XP_011510032.1:p.Gln25823Leu
XM_011511731.1:c.77327A>T (TTN) XP_011510033.1:p.Gln25776Leu
XM_017004819.1:c.103370A>T (TTN) XP_016860308.1:p.Gln34457Leu
XM_017004820.1:c.98768A>T (TTN) XP_016860309.1:p.Gln32923Leu
XM_017004821.1:c.98765A>T (TTN) XP_016860310.1:p.Gln32922Leu
XM_017004822.1:c.95807A>T (TTN) XP_016860311.1:p.Gln31936Leu
XM_017004823.1:c.77423A>T (TTN) XP_016860312.1:p.Gln25808Leu
XM_024453094.1:c.98918A>T (TTN) XP_024308862.1:p.Gln32973Leu
XM_024453095.1:c.98915A>T (TTN) XP_024308863.1:p.Gln32972Leu
XM_024453096.1:c.98348A>T (TTN) XP_024308864.1:p.Gln32783Leu
XM_024453097.1:c.95690A>T (TTN) XP_024308865.1:p.Gln31897Leu
XM_024453098.1:c.95609A>T (TTN) XP_024308866.1:p.Gln31870Leu
XM_024453099.1:c.77372A>T (TTN) XP_024308867.1:p.Gln25791Leu
XM_024453100.1:c.67226A>T (TTN) XP_024308868.1:p.Gln22409Leu