Canonical Allele Identifier: CA1987819
Community Standard Title: NM_001267550.2(TTN):c.90198T>G (p.Val30066=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552702A>C , CM000664.2:g.178552702A>C GRCh38
NC_000002.11:g.179417429A>C , CM000664.1:g.179417429A>C GRCh37
NC_000002.10:g.179125675A>C NCBI36
NG_011618.3:g.283101T>G , LRG_391:g.283101T>G
NG_051363.1:g.34876A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.90198T>G (TTN) MANE Select NP_001254479.2:p.Val30066=
ENST00000589042.5:c.90198T>G (TTN) MANE Select ENSP00000467141.1:p.Val30066=
NM_001256850.1:c.85275T>G (TTN) NP_001243779.1:p.Val28425=
NM_003319.4:c.63003T>G (TTN) NP_003310.4:p.Val21001=
NM_133378.4:c.82494T>G (TTN) NP_596869.4:p.Val27498=
NM_133432.3:c.63378T>G (TTN) NP_597676.3:p.Val21126=
NM_133437.4:c.63579T>G (TTN) NP_597681.4:p.Val21193=
NR_038271.1:n.447-18598A>C (TTN-AS1)
NR_038272.1:n.2043+10341A>C (TTN-AS1)
ENST00000342175.10:c.63579T>G (TTN) ENSP00000340554.6:p.Val21193=
ENST00000342175.11:c.63579T>G (TTN) ENSP00000340554.6:p.Val21193=
ENST00000342992.10:c.82494T>G (TTN) ENSP00000343764.6:p.Val27498=
ENST00000342992.11:c.82494T>G (TTN) ENSP00000343764.6:p.Val27498=
ENST00000359218.10:c.63378T>G (TTN) ENSP00000352154.5:p.Val21126=
ENST00000359218.9:c.63378T>G (TTN) ENSP00000352154.5:p.Val21126=
ENST00000460472.6:c.63003T>G (TTN) ENSP00000434586.1:p.Val21001=
ENST00000591111.5:c.85275T>G (TTN) ENSP00000465570.1:p.Val28425=
ENST00000615779.4:c.85275T>G (TTN) ENSP00000483597.1:p.Val28425=
XM_011511729.1:c.89295T>G (TTN) XP_011510031.1:p.Val29765=
XM_011511730.1:c.63189T>G (TTN) XP_011510032.1:p.Val21063=
XM_011511731.1:c.63048T>G (TTN) XP_011510033.1:p.Val21016=
XM_017004819.1:c.89091T>G (TTN) XP_016860308.1:p.Val29697=
XM_017004820.1:c.84489T>G (TTN) XP_016860309.1:p.Val28163=
XM_017004821.1:c.84486T>G (TTN) XP_016860310.1:p.Val28162=
XM_017004822.1:c.81528T>G (TTN) XP_016860311.1:p.Val27176=
XM_017004823.1:c.63144T>G (TTN) XP_016860312.1:p.Val21048=
XM_024453094.1:c.84639T>G (TTN) XP_024308862.1:p.Val28213=
XM_024453095.1:c.84636T>G (TTN) XP_024308863.1:p.Val28212=
XM_024453096.1:c.84069T>G (TTN) XP_024308864.1:p.Val28023=
XM_024453097.1:c.81411T>G (TTN) XP_024308865.1:p.Val27137=
XM_024453098.1:c.81330T>G (TTN) XP_024308866.1:p.Val27110=
XM_024453099.1:c.63093T>G (TTN) XP_024308867.1:p.Val21031=
XM_024453100.1:c.52947T>G (TTN) XP_024308868.1:p.Val17649=