Canonical Allele Identifier: CA430248043
Community Standard Title: NM_001267550.2(TTN):c.86445C>G (p.Ala28815=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559687G>C , CM000664.2:g.178559687G>C GRCh38
NC_000002.11:g.179424414G>C , CM000664.1:g.179424414G>C GRCh37
NC_000002.10:g.179132660G>C NCBI36
NG_011618.3:g.276116C>G , LRG_391:g.276116C>G
NG_051363.1:g.41861G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.86445C>G (TTN) MANE Select NP_001254479.2:p.Ala28815=
ENST00000589042.5:c.86445C>G (TTN) MANE Select ENSP00000467141.1:p.Ala28815=
NM_001256850.1:c.81522C>G (TTN) NP_001243779.1:p.Ala27174=
NM_003319.4:c.59250C>G (TTN) NP_003310.4:p.Ala19750=
NM_133378.4:c.78741C>G (TTN) NP_596869.4:p.Ala26247=
NM_133432.3:c.59625C>G (TTN) NP_597676.3:p.Ala19875=
NM_133437.4:c.59826C>G (TTN) NP_597681.4:p.Ala19942=
NR_038271.1:n.447-11613G>C (TTN-AS1)
NR_038272.1:n.2043+17326G>C (TTN-AS1)
ENST00000342175.10:c.59826C>G (TTN) ENSP00000340554.6:p.Ala19942=
ENST00000342175.11:c.59826C>G (TTN) ENSP00000340554.6:p.Ala19942=
ENST00000342992.10:c.78741C>G (TTN) ENSP00000343764.6:p.Ala26247=
ENST00000342992.11:c.78741C>G (TTN) ENSP00000343764.6:p.Ala26247=
ENST00000359218.10:c.59625C>G (TTN) ENSP00000352154.5:p.Ala19875=
ENST00000359218.9:c.59625C>G (TTN) ENSP00000352154.5:p.Ala19875=
ENST00000460472.6:c.59250C>G (TTN) ENSP00000434586.1:p.Ala19750=
ENST00000591111.5:c.81522C>G (TTN) ENSP00000465570.1:p.Ala27174=
ENST00000615779.4:c.81522C>G (TTN) ENSP00000483597.1:p.Ala27174=
XM_011511729.1:c.85542C>G (TTN) XP_011510031.1:p.Ala28514=
XM_011511730.1:c.59436C>G (TTN) XP_011510032.1:p.Ala19812=
XM_011511731.1:c.59295C>G (TTN) XP_011510033.1:p.Ala19765=
XM_017004819.1:c.85338C>G (TTN) XP_016860308.1:p.Ala28446=
XM_017004820.1:c.80736C>G (TTN) XP_016860309.1:p.Ala26912=
XM_017004821.1:c.80733C>G (TTN) XP_016860310.1:p.Ala26911=
XM_017004822.1:c.77775C>G (TTN) XP_016860311.1:p.Ala25925=
XM_017004823.1:c.59391C>G (TTN) XP_016860312.1:p.Ala19797=
XM_024453094.1:c.80886C>G (TTN) XP_024308862.1:p.Ala26962=
XM_024453095.1:c.80883C>G (TTN) XP_024308863.1:p.Ala26961=
XM_024453096.1:c.80316C>G (TTN) XP_024308864.1:p.Ala26772=
XM_024453097.1:c.77658C>G (TTN) XP_024308865.1:p.Ala25886=
XM_024453098.1:c.77577C>G (TTN) XP_024308866.1:p.Ala25859=
XM_024453099.1:c.59340C>G (TTN) XP_024308867.1:p.Ala19780=
XM_024453100.1:c.49194C>G (TTN) XP_024308868.1:p.Ala16398=