Canonical Allele Identifier: CA178410
Community Standard Title: NM_001267550.2(TTN):c.95968G>A (p.Val31990Met)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544261C>T , CM000664.2:g.178544261C>T GRCh38
NC_000002.11:g.179408988C>T , CM000664.1:g.179408988C>T GRCh37
NC_000002.10:g.179117234C>T NCBI36
NG_011618.3:g.291542G>A , LRG_391:g.291542G>A
NG_051363.1:g.26435C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.95968G>A (TTN) MANE Select NP_001254479.2:p.Val31990Met
ENST00000589042.5:c.95968G>A (TTN) MANE Select ENSP00000467141.1:p.Val31990Met
NM_001256850.1:c.91045G>A (TTN) NP_001243779.1:p.Val30349Met
NM_003319.4:c.68773G>A (TTN) NP_003310.4:p.Val22925Met
NM_133378.4:c.88264G>A (TTN) NP_596869.4:p.Val29422Met
NM_133432.3:c.69148G>A (TTN) NP_597676.3:p.Val23050Met
NM_133437.4:c.69349G>A (TTN) NP_597681.4:p.Val23117Met
NR_038271.1:n.446+20625C>T (TTN-AS1)
NR_038272.1:n.2043+1900C>T (TTN-AS1)
ENST00000342175.10:c.69349G>A (TTN) ENSP00000340554.6:p.Val23117Met
ENST00000342175.11:c.69349G>A (TTN) ENSP00000340554.6:p.Val23117Met
ENST00000342992.10:c.88264G>A (TTN) ENSP00000343764.6:p.Val29422Met
ENST00000342992.11:c.88264G>A (TTN) ENSP00000343764.6:p.Val29422Met
ENST00000359218.10:c.69148G>A (TTN) ENSP00000352154.5:p.Val23050Met
ENST00000359218.9:c.69148G>A (TTN) ENSP00000352154.5:p.Val23050Met
ENST00000460472.6:c.68773G>A (TTN) ENSP00000434586.1:p.Val22925Met
ENST00000591111.5:c.91045G>A (TTN) ENSP00000465570.1:p.Val30349Met
ENST00000615779.4:c.91045G>A (TTN) ENSP00000483597.1:p.Val30349Met
XM_011511729.1:c.95065G>A (TTN) XP_011510031.1:p.Val31689Met
XM_011511730.1:c.68959G>A (TTN) XP_011510032.1:p.Val22987Met
XM_011511731.1:c.68818G>A (TTN) XP_011510033.1:p.Val22940Met
XM_017004819.1:c.94861G>A (TTN) XP_016860308.1:p.Val31621Met
XM_017004820.1:c.90259G>A (TTN) XP_016860309.1:p.Val30087Met
XM_017004821.1:c.90256G>A (TTN) XP_016860310.1:p.Val30086Met
XM_017004822.1:c.87298G>A (TTN) XP_016860311.1:p.Val29100Met
XM_017004823.1:c.68914G>A (TTN) XP_016860312.1:p.Val22972Met
XM_024453094.1:c.90409G>A (TTN) XP_024308862.1:p.Val30137Met
XM_024453095.1:c.90406G>A (TTN) XP_024308863.1:p.Val30136Met
XM_024453096.1:c.89839G>A (TTN) XP_024308864.1:p.Val29947Met
XM_024453097.1:c.87181G>A (TTN) XP_024308865.1:p.Val29061Met
XM_024453098.1:c.87100G>A (TTN) XP_024308866.1:p.Val29034Met
XM_024453099.1:c.68863G>A (TTN) XP_024308867.1:p.Val22955Met
XM_024453100.1:c.58717G>A (TTN) XP_024308868.1:p.Val19573Met