Canonical Allele Identifier: CA1995713
Community Standard Title: NM_001267550.2(TTN):c.44229G>A (p.Gly14743=)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178630293C>T , CM000664.2:g.178630293C>T GRCh38
NC_000002.11:g.179495020C>T , CM000664.1:g.179495020C>T GRCh37
NC_000002.10:g.179203265C>T NCBI36
NG_011618.3:g.205510G>A , LRG_391:g.205510G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.44229G>A MANE Select NP_001254479.2:p.Gly14743=
ENST00000589042.5:c.44229G>A MANE Select ENSP00000467141.1:p.Gly14743=
NM_001256850.1:c.39306G>A NP_001243779.1:p.Gly13102=
NM_003319.4:c.17034G>A NP_003310.4:p.Gly5678=
NM_133378.4:c.36525G>A NP_596869.4:p.Gly12175=
NM_133432.3:c.17409G>A NP_597676.3:p.Gly5803=
NM_133437.4:c.17610G>A NP_597681.4:p.Gly5870=
ENST00000342175.10:c.17610G>A ENSP00000340554.6:p.Gly5870=
ENST00000342175.11:c.17610G>A ENSP00000340554.6:p.Gly5870=
ENST00000342992.10:c.36525G>A ENSP00000343764.6:p.Gly12175=
ENST00000342992.11:c.36525G>A ENSP00000343764.6:p.Gly12175=
ENST00000359218.10:c.17409G>A ENSP00000352154.5:p.Gly5803=
ENST00000359218.9:c.17409G>A ENSP00000352154.5:p.Gly5803=
ENST00000460472.6:c.17034G>A ENSP00000434586.1:p.Gly5678=
ENST00000591111.5:c.39306G>A ENSP00000465570.1:p.Gly13102=
ENST00000615779.4:c.39306G>A ENSP00000483597.1:p.Gly13102=
XM_011511729.1:c.43326G>A XP_011510031.1:p.Gly14442=
XM_011511730.1:c.17220G>A XP_011510032.1:p.Gly5740=
XM_011511731.1:c.17079G>A XP_011510033.1:p.Gly5693=
XM_017004819.1:c.43122G>A XP_016860308.1:p.Gly14374=
XM_017004820.1:c.38520G>A XP_016860309.1:p.Gly12840=
XM_017004821.1:c.38517G>A XP_016860310.1:p.Gly12839=
XM_017004822.1:c.35559G>A XP_016860311.1:p.Gly11853=
XM_017004823.1:c.17175G>A XP_016860312.1:p.Gly5725=
XM_024453094.1:c.38670G>A XP_024308862.1:p.Gly12890=
XM_024453095.1:c.38667G>A XP_024308863.1:p.Gly12889=
XM_024453096.1:c.38100G>A XP_024308864.1:p.Gly12700=
XM_024453097.1:c.35442G>A XP_024308865.1:p.Gly11814=
XM_024453098.1:c.35361G>A XP_024308866.1:p.Gly11787=
XM_024453099.1:c.17124G>A XP_024308867.1:p.Gly5708=
XM_024453100.1:c.6978G>A XP_024308868.1:p.Gly2326=