Canonical Allele Identifier: CA1985094
Community Standard Title: NM_001267550.2(TTN):c.106531G>A (p.Ala35511Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178529960C>T , CM000664.2:g.178529960C>T GRCh38
NC_000002.11:g.179394687C>T , CM000664.1:g.179394687C>T GRCh37
NC_000002.10:g.179102933C>T NCBI36
NG_011618.3:g.305843G>A , LRG_391:g.305843G>A
NG_051363.1:g.12134C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.106531G>A (TTN) MANE Select NP_001254479.2:p.Ala35511Thr
ENST00000589042.5:c.106531G>A (TTN) MANE Select ENSP00000467141.1:p.Ala35511Thr
NM_001256850.1:c.101608G>A (TTN) NP_001243779.1:p.Ala33870Thr
NM_003319.4:c.79336G>A (TTN) NP_003310.4:p.Ala26446Thr
NM_133378.4:c.98827G>A (TTN) NP_596869.4:p.Ala32943Thr
NM_133432.3:c.79711G>A (TTN) NP_597676.3:p.Ala26571Thr
NM_133437.4:c.79912G>A (TTN) NP_597681.4:p.Ala26638Thr
NR_038271.1:n.446+6324C>T (TTN-AS1)
NR_038272.1:n.220-5772C>T (TTN-AS1)
ENST00000342175.10:c.79912G>A (TTN) ENSP00000340554.6:p.Ala26638Thr
ENST00000342175.11:c.79912G>A (TTN) ENSP00000340554.6:p.Ala26638Thr
ENST00000342992.10:c.98827G>A (TTN) ENSP00000343764.6:p.Ala32943Thr
ENST00000342992.11:c.98827G>A (TTN) ENSP00000343764.6:p.Ala32943Thr
ENST00000359218.10:c.79711G>A (TTN) ENSP00000352154.5:p.Ala26571Thr
ENST00000359218.9:c.79711G>A (TTN) ENSP00000352154.5:p.Ala26571Thr
ENST00000460472.6:c.79336G>A (TTN) ENSP00000434586.1:p.Ala26446Thr
ENST00000591111.5:c.101608G>A (TTN) ENSP00000465570.1:p.Ala33870Thr
ENST00000615779.4:c.101608G>A (TTN) ENSP00000483597.1:p.Ala33870Thr
XM_011511729.1:c.105628G>A (TTN) XP_011510031.1:p.Ala35210Thr
XM_011511730.1:c.79522G>A (TTN) XP_011510032.1:p.Ala26508Thr
XM_011511731.1:c.79381G>A (TTN) XP_011510033.1:p.Ala26461Thr
XM_017004819.1:c.105424G>A (TTN) XP_016860308.1:p.Ala35142Thr
XM_017004820.1:c.100822G>A (TTN) XP_016860309.1:p.Ala33608Thr
XM_017004821.1:c.100819G>A (TTN) XP_016860310.1:p.Ala33607Thr
XM_017004822.1:c.97861G>A (TTN) XP_016860311.1:p.Ala32621Thr
XM_017004823.1:c.79477G>A (TTN) XP_016860312.1:p.Ala26493Thr
XM_024453094.1:c.100972G>A (TTN) XP_024308862.1:p.Ala33658Thr
XM_024453095.1:c.100969G>A (TTN) XP_024308863.1:p.Ala33657Thr
XM_024453096.1:c.100402G>A (TTN) XP_024308864.1:p.Ala33468Thr
XM_024453097.1:c.97744G>A (TTN) XP_024308865.1:p.Ala32582Thr
XM_024453098.1:c.97663G>A (TTN) XP_024308866.1:p.Ala32555Thr
XM_024453099.1:c.79426G>A (TTN) XP_024308867.1:p.Ala26476Thr
XM_024453100.1:c.69280G>A (TTN) XP_024308868.1:p.Ala23094Thr