Canonical Allele Identifier: CA430245953
Community Standard Title: NM_001267550.2(TTN):c.89250C>T (p.Ser29750=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553755G>A , CM000664.2:g.178553755G>A GRCh38
NC_000002.11:g.179418482G>A , CM000664.1:g.179418482G>A GRCh37
NC_000002.10:g.179126728G>A NCBI36
NG_011618.3:g.282048C>T , LRG_391:g.282048C>T
NG_051363.1:g.35929G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.89250C>T (TTN) MANE Select NP_001254479.2:p.Ser29750=
ENST00000589042.5:c.89250C>T (TTN) MANE Select ENSP00000467141.1:p.Ser29750=
NM_001256850.1:c.84327C>T (TTN) NP_001243779.1:p.Ser28109=
NM_003319.4:c.62055C>T (TTN) NP_003310.4:p.Ser20685=
NM_133378.4:c.81546C>T (TTN) NP_596869.4:p.Ser27182=
NM_133432.3:c.62430C>T (TTN) NP_597676.3:p.Ser20810=
NM_133437.4:c.62631C>T (TTN) NP_597681.4:p.Ser20877=
NR_038271.1:n.447-17545G>A (TTN-AS1)
NR_038272.1:n.2043+11394G>A (TTN-AS1)
ENST00000342175.10:c.62631C>T (TTN) ENSP00000340554.6:p.Ser20877=
ENST00000342175.11:c.62631C>T (TTN) ENSP00000340554.6:p.Ser20877=
ENST00000342992.10:c.81546C>T (TTN) ENSP00000343764.6:p.Ser27182=
ENST00000342992.11:c.81546C>T (TTN) ENSP00000343764.6:p.Ser27182=
ENST00000359218.10:c.62430C>T (TTN) ENSP00000352154.5:p.Ser20810=
ENST00000359218.9:c.62430C>T (TTN) ENSP00000352154.5:p.Ser20810=
ENST00000460472.6:c.62055C>T (TTN) ENSP00000434586.1:p.Ser20685=
ENST00000591111.5:c.84327C>T (TTN) ENSP00000465570.1:p.Ser28109=
ENST00000615779.4:c.84327C>T (TTN) ENSP00000483597.1:p.Ser28109=
XM_011511729.1:c.88347C>T (TTN) XP_011510031.1:p.Ser29449=
XM_011511730.1:c.62241C>T (TTN) XP_011510032.1:p.Ser20747=
XM_011511731.1:c.62100C>T (TTN) XP_011510033.1:p.Ser20700=
XM_017004819.1:c.88143C>T (TTN) XP_016860308.1:p.Ser29381=
XM_017004820.1:c.83541C>T (TTN) XP_016860309.1:p.Ser27847=
XM_017004821.1:c.83538C>T (TTN) XP_016860310.1:p.Ser27846=
XM_017004822.1:c.80580C>T (TTN) XP_016860311.1:p.Ser26860=
XM_017004823.1:c.62196C>T (TTN) XP_016860312.1:p.Ser20732=
XM_024453094.1:c.83691C>T (TTN) XP_024308862.1:p.Ser27897=
XM_024453095.1:c.83688C>T (TTN) XP_024308863.1:p.Ser27896=
XM_024453096.1:c.83121C>T (TTN) XP_024308864.1:p.Ser27707=
XM_024453097.1:c.80463C>T (TTN) XP_024308865.1:p.Ser26821=
XM_024453098.1:c.80382C>T (TTN) XP_024308866.1:p.Ser26794=
XM_024453099.1:c.62145C>T (TTN) XP_024308867.1:p.Ser20715=
XM_024453100.1:c.51999C>T (TTN) XP_024308868.1:p.Ser17333=