Canonical Allele Identifier: CA430241262
Community Standard Title: NM_001267550.2(TTN):c.96723C>G (p.Ala32241=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543250G>C , CM000664.2:g.178543250G>C GRCh38
NC_000002.11:g.179407977G>C , CM000664.1:g.179407977G>C GRCh37
NC_000002.10:g.179116223G>C NCBI36
NG_011618.3:g.292553C>G , LRG_391:g.292553C>G
NG_051363.1:g.25424G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.96723C>G (TTN) MANE Select NP_001254479.2:p.Ala32241=
ENST00000589042.5:c.96723C>G (TTN) MANE Select ENSP00000467141.1:p.Ala32241=
NM_001256850.1:c.91800C>G (TTN) NP_001243779.1:p.Ala30600=
NM_003319.4:c.69528C>G (TTN) NP_003310.4:p.Ala23176=
NM_133378.4:c.89019C>G (TTN) NP_596869.4:p.Ala29673=
NM_133432.3:c.69903C>G (TTN) NP_597676.3:p.Ala23301=
NM_133437.4:c.70104C>G (TTN) NP_597681.4:p.Ala23368=
NR_038271.1:n.446+19614G>C (TTN-AS1)
NR_038272.1:n.2043+889G>C (TTN-AS1)
ENST00000342175.10:c.70104C>G (TTN) ENSP00000340554.6:p.Ala23368=
ENST00000342175.11:c.70104C>G (TTN) ENSP00000340554.6:p.Ala23368=
ENST00000342992.10:c.89019C>G (TTN) ENSP00000343764.6:p.Ala29673=
ENST00000342992.11:c.89019C>G (TTN) ENSP00000343764.6:p.Ala29673=
ENST00000359218.10:c.69903C>G (TTN) ENSP00000352154.5:p.Ala23301=
ENST00000359218.9:c.69903C>G (TTN) ENSP00000352154.5:p.Ala23301=
ENST00000460472.6:c.69528C>G (TTN) ENSP00000434586.1:p.Ala23176=
ENST00000591111.5:c.91800C>G (TTN) ENSP00000465570.1:p.Ala30600=
ENST00000615779.4:c.91800C>G (TTN) ENSP00000483597.1:p.Ala30600=
XM_011511729.1:c.95820C>G (TTN) XP_011510031.1:p.Ala31940=
XM_011511730.1:c.69714C>G (TTN) XP_011510032.1:p.Ala23238=
XM_011511731.1:c.69573C>G (TTN) XP_011510033.1:p.Ala23191=
XM_017004819.1:c.95616C>G (TTN) XP_016860308.1:p.Ala31872=
XM_017004820.1:c.91014C>G (TTN) XP_016860309.1:p.Ala30338=
XM_017004821.1:c.91011C>G (TTN) XP_016860310.1:p.Ala30337=
XM_017004822.1:c.88053C>G (TTN) XP_016860311.1:p.Ala29351=
XM_017004823.1:c.69669C>G (TTN) XP_016860312.1:p.Ala23223=
XM_024453094.1:c.91164C>G (TTN) XP_024308862.1:p.Ala30388=
XM_024453095.1:c.91161C>G (TTN) XP_024308863.1:p.Ala30387=
XM_024453096.1:c.90594C>G (TTN) XP_024308864.1:p.Ala30198=
XM_024453097.1:c.87936C>G (TTN) XP_024308865.1:p.Ala29312=
XM_024453098.1:c.87855C>G (TTN) XP_024308866.1:p.Ala29285=
XM_024453099.1:c.69618C>G (TTN) XP_024308867.1:p.Ala23206=
XM_024453100.1:c.59472C>G (TTN) XP_024308868.1:p.Ala19824=