Canonical Allele Identifier: CA3094924146
Community Standard Title: NM_001267550.2(TTN):c.79307G= (p.Cys26436=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566825C= , CM000664.2:g.178566825C= GRCh38
NC_000002.11:g.179431552C= , CM000664.1:g.179431552C= GRCh37
NC_000002.10:g.179139798C= NCBI36
NG_011618.3:g.268978G= , LRG_391:g.268978G=
NG_051363.1:g.48999C=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.79307G= (TTN) MANE Select NP_001254479.2:p.Cys26436=
ENST00000589042.5:c.79307G= (TTN) MANE Select ENSP00000467141.1:p.Cys26436=
NM_001256850.1:c.74384G= (TTN) NP_001243779.1:p.Cys24795=
NM_003319.4:c.52112G= (TTN) NP_003310.4:p.Cys17371=
NM_133378.4:c.71603G= (TTN) NP_596869.4:p.Cys23868=
NM_133432.3:c.52487G= (TTN) NP_597676.3:p.Cys17496=
NM_133437.4:c.52688G= (TTN) NP_597681.4:p.Cys17563=
NR_038271.1:n.447-4475C= (TTN-AS1)
NR_038272.1:n.2044-15747C= (TTN-AS1)
ENST00000342175.10:c.52688G= (TTN) ENSP00000340554.6:p.Cys17563=
ENST00000342175.11:c.52688G= (TTN) ENSP00000340554.6:p.Cys17563=
ENST00000342992.10:c.71603G= (TTN) ENSP00000343764.6:p.Cys23868=
ENST00000342992.11:c.71603G= (TTN) ENSP00000343764.6:p.Cys23868=
ENST00000359218.10:c.52487G= (TTN) ENSP00000352154.5:p.Cys17496=
ENST00000359218.9:c.52487G= (TTN) ENSP00000352154.5:p.Cys17496=
ENST00000460472.6:c.52112G= (TTN) ENSP00000434586.1:p.Cys17371=
ENST00000591111.5:c.74384G= (TTN) ENSP00000465570.1:p.Cys24795=
ENST00000615779.4:c.74384G= (TTN) ENSP00000483597.1:p.Cys24795=
XM_011511729.1:c.78404G= (TTN) XP_011510031.1:p.Cys26135=
XM_011511730.1:c.52298G= (TTN) XP_011510032.1:p.Cys17433=
XM_011511731.1:c.52157G= (TTN) XP_011510033.1:p.Cys17386=
XM_017004819.1:c.78200G= (TTN) XP_016860308.1:p.Cys26067=
XM_017004820.1:c.73598G= (TTN) XP_016860309.1:p.Cys24533=
XM_017004821.1:c.73595G= (TTN) XP_016860310.1:p.Cys24532=
XM_017004822.1:c.70637G= (TTN) XP_016860311.1:p.Cys23546=
XM_017004823.1:c.52253G= (TTN) XP_016860312.1:p.Cys17418=
XM_024453094.1:c.73748G= (TTN) XP_024308862.1:p.Cys24583=
XM_024453095.1:c.73745G= (TTN) XP_024308863.1:p.Cys24582=
XM_024453096.1:c.73178G= (TTN) XP_024308864.1:p.Cys24393=
XM_024453097.1:c.70520G= (TTN) XP_024308865.1:p.Cys23507=
XM_024453098.1:c.70439G= (TTN) XP_024308866.1:p.Cys23480=
XM_024453099.1:c.52202G= (TTN) XP_024308867.1:p.Cys17401=
XM_024453100.1:c.42056G= (TTN) XP_024308868.1:p.Cys14019=