Canonical Allele Identifier: CA1991766
Community Standard Title: NM_001267550.2(TTN):c.65168G>A (p.Gly21723Asp)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584383C>T , CM000664.2:g.178584383C>T GRCh38
NC_000002.11:g.179449110C>T , CM000664.1:g.179449110C>T GRCh37
NC_000002.10:g.179157356C>T NCBI36
NG_011618.3:g.251420G>A , LRG_391:g.251420G>A
NG_051363.1:g.66557C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.65168G>A (TTN) MANE Select NP_001254479.2:p.Gly21723Asp
ENST00000589042.5:c.65168G>A (TTN) MANE Select ENSP00000467141.1:p.Gly21723Asp
NM_001256850.1:c.60245G>A (TTN) NP_001243779.1:p.Gly20082Asp
NM_003319.4:c.37973G>A (TTN) NP_003310.4:p.Gly12658Asp
NM_133378.4:c.57464G>A (TTN) NP_596869.4:p.Gly19155Asp
NM_133432.3:c.38348G>A (TTN) NP_597676.3:p.Gly12783Asp
NM_133437.4:c.38549G>A (TTN) NP_597681.4:p.Gly12850Asp
NR_038271.1:n.596+12934C>T (TTN-AS1)
NR_038272.1:n.2768-190C>T (TTN-AS1)
ENST00000342175.10:c.38549G>A (TTN) ENSP00000340554.6:p.Gly12850Asp
ENST00000342175.11:c.38549G>A (TTN) ENSP00000340554.6:p.Gly12850Asp
ENST00000342992.10:c.57464G>A (TTN) ENSP00000343764.6:p.Gly19155Asp
ENST00000342992.11:c.57464G>A (TTN) ENSP00000343764.6:p.Gly19155Asp
ENST00000359218.10:c.38348G>A (TTN) ENSP00000352154.5:p.Gly12783Asp
ENST00000359218.9:c.38348G>A (TTN) ENSP00000352154.5:p.Gly12783Asp
ENST00000460472.6:c.37973G>A (TTN) ENSP00000434586.1:p.Gly12658Asp
ENST00000591111.5:c.60245G>A (TTN) ENSP00000465570.1:p.Gly20082Asp
ENST00000615779.4:c.60245G>A (TTN) ENSP00000483597.1:p.Gly20082Asp
XM_011511729.1:c.64265G>A (TTN) XP_011510031.1:p.Gly21422Asp
XM_011511730.1:c.38159G>A (TTN) XP_011510032.1:p.Gly12720Asp
XM_011511731.1:c.38018G>A (TTN) XP_011510033.1:p.Gly12673Asp
XM_017004819.1:c.64061G>A (TTN) XP_016860308.1:p.Gly21354Asp
XM_017004820.1:c.59459G>A (TTN) XP_016860309.1:p.Gly19820Asp
XM_017004821.1:c.59456G>A (TTN) XP_016860310.1:p.Gly19819Asp
XM_017004822.1:c.56498G>A (TTN) XP_016860311.1:p.Gly18833Asp
XM_017004823.1:c.38114G>A (TTN) XP_016860312.1:p.Gly12705Asp
XM_024453094.1:c.59609G>A (TTN) XP_024308862.1:p.Gly19870Asp
XM_024453095.1:c.59606G>A (TTN) XP_024308863.1:p.Gly19869Asp
XM_024453096.1:c.59039G>A (TTN) XP_024308864.1:p.Gly19680Asp
XM_024453097.1:c.56381G>A (TTN) XP_024308865.1:p.Gly18794Asp
XM_024453098.1:c.56300G>A (TTN) XP_024308866.1:p.Gly18767Asp
XM_024453099.1:c.38063G>A (TTN) XP_024308867.1:p.Gly12688Asp
XM_024453100.1:c.27917G>A (TTN) XP_024308868.1:p.Gly9306Asp