Canonical Allele Identifier: CA1988644
Community Standard Title: NM_001267550.2(TTN):c.85443A>G (p.Ala28481=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560689T>C , CM000664.2:g.178560689T>C GRCh38
NC_000002.11:g.179425416T>C , CM000664.1:g.179425416T>C GRCh37
NC_000002.10:g.179133662T>C NCBI36
NG_011618.3:g.275114A>G , LRG_391:g.275114A>G
NG_051363.1:g.42863T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85443A>G (TTN) MANE Select NP_001254479.2:p.Ala28481=
ENST00000589042.5:c.85443A>G (TTN) MANE Select ENSP00000467141.1:p.Ala28481=
NM_001256850.1:c.80520A>G (TTN) NP_001243779.1:p.Ala26840=
NM_003319.4:c.58248A>G (TTN) NP_003310.4:p.Ala19416=
NM_133378.4:c.77739A>G (TTN) NP_596869.4:p.Ala25913=
NM_133432.3:c.58623A>G (TTN) NP_597676.3:p.Ala19541=
NM_133437.4:c.58824A>G (TTN) NP_597681.4:p.Ala19608=
NR_038271.1:n.447-10611T>C (TTN-AS1)
NR_038272.1:n.2043+18328T>C (TTN-AS1)
ENST00000342175.10:c.58824A>G (TTN) ENSP00000340554.6:p.Ala19608=
ENST00000342175.11:c.58824A>G (TTN) ENSP00000340554.6:p.Ala19608=
ENST00000342992.10:c.77739A>G (TTN) ENSP00000343764.6:p.Ala25913=
ENST00000342992.11:c.77739A>G (TTN) ENSP00000343764.6:p.Ala25913=
ENST00000359218.10:c.58623A>G (TTN) ENSP00000352154.5:p.Ala19541=
ENST00000359218.9:c.58623A>G (TTN) ENSP00000352154.5:p.Ala19541=
ENST00000460472.6:c.58248A>G (TTN) ENSP00000434586.1:p.Ala19416=
ENST00000591111.5:c.80520A>G (TTN) ENSP00000465570.1:p.Ala26840=
ENST00000615779.4:c.80520A>G (TTN) ENSP00000483597.1:p.Ala26840=
XM_011511729.1:c.84540A>G (TTN) XP_011510031.1:p.Ala28180=
XM_011511730.1:c.58434A>G (TTN) XP_011510032.1:p.Ala19478=
XM_011511731.1:c.58293A>G (TTN) XP_011510033.1:p.Ala19431=
XM_017004819.1:c.84336A>G (TTN) XP_016860308.1:p.Ala28112=
XM_017004820.1:c.79734A>G (TTN) XP_016860309.1:p.Ala26578=
XM_017004821.1:c.79731A>G (TTN) XP_016860310.1:p.Ala26577=
XM_017004822.1:c.76773A>G (TTN) XP_016860311.1:p.Ala25591=
XM_017004823.1:c.58389A>G (TTN) XP_016860312.1:p.Ala19463=
XM_024453094.1:c.79884A>G (TTN) XP_024308862.1:p.Ala26628=
XM_024453095.1:c.79881A>G (TTN) XP_024308863.1:p.Ala26627=
XM_024453096.1:c.79314A>G (TTN) XP_024308864.1:p.Ala26438=
XM_024453097.1:c.76656A>G (TTN) XP_024308865.1:p.Ala25552=
XM_024453098.1:c.76575A>G (TTN) XP_024308866.1:p.Ala25525=
XM_024453099.1:c.58338A>G (TTN) XP_024308867.1:p.Ala19446=
XM_024453100.1:c.48192A>G (TTN) XP_024308868.1:p.Ala16064=