Canonical Allele Identifier: CA349650714
Community Standard Title: NM_001267550.2(TTN):c.43431C>G (p.Tyr14477Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178632575G>C , CM000664.2:g.178632575G>C GRCh38
NC_000002.11:g.179497302G>C , CM000664.1:g.179497302G>C GRCh37
NC_000002.10:g.179205547G>C NCBI36
NG_011618.3:g.203228C>G , LRG_391:g.203228C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.43431C>G MANE Select NP_001254479.2:p.Tyr14477Ter
ENST00000589042.5:c.43431C>G MANE Select ENSP00000467141.1:p.Tyr14477Ter
NM_001256850.1:c.38508C>G NP_001243779.1:p.Tyr12836Ter
NM_003319.4:c.16236C>G NP_003310.4:p.Tyr5412Ter
NM_133378.4:c.35727C>G NP_596869.4:p.Tyr11909Ter
NM_133432.3:c.16611C>G NP_597676.3:p.Tyr5537Ter
NM_133437.4:c.16812C>G NP_597681.4:p.Tyr5604Ter
ENST00000342175.10:c.16812C>G ENSP00000340554.6:p.Tyr5604Ter
ENST00000342175.11:c.16812C>G ENSP00000340554.6:p.Tyr5604Ter
ENST00000342992.10:c.35727C>G ENSP00000343764.6:p.Tyr11909Ter
ENST00000342992.11:c.35727C>G ENSP00000343764.6:p.Tyr11909Ter
ENST00000359218.10:c.16611C>G ENSP00000352154.5:p.Tyr5537Ter
ENST00000359218.9:c.16611C>G ENSP00000352154.5:p.Tyr5537Ter
ENST00000460472.6:c.16236C>G ENSP00000434586.1:p.Tyr5412Ter
ENST00000591111.5:c.38508C>G ENSP00000465570.1:p.Tyr12836Ter
ENST00000615779.4:c.38508C>G ENSP00000483597.1:p.Tyr12836Ter
XM_011511729.1:c.42528C>G XP_011510031.1:p.Tyr14176Ter
XM_011511730.1:c.16422C>G XP_011510032.1:p.Tyr5474Ter
XM_011511731.1:c.16281C>G XP_011510033.1:p.Tyr5427Ter
XM_017004819.1:c.42324C>G XP_016860308.1:p.Tyr14108Ter
XM_017004820.1:c.37722C>G XP_016860309.1:p.Tyr12574Ter
XM_017004821.1:c.37719C>G XP_016860310.1:p.Tyr12573Ter
XM_017004822.1:c.34761C>G XP_016860311.1:p.Tyr11587Ter
XM_017004823.1:c.16377C>G XP_016860312.1:p.Tyr5459Ter
XM_024453094.1:c.37872C>G XP_024308862.1:p.Tyr12624Ter
XM_024453095.1:c.37869C>G XP_024308863.1:p.Tyr12623Ter
XM_024453096.1:c.37302C>G XP_024308864.1:p.Tyr12434Ter
XM_024453097.1:c.34644C>G XP_024308865.1:p.Tyr11548Ter
XM_024453098.1:c.34563C>G XP_024308866.1:p.Tyr11521Ter
XM_024453099.1:c.16326C>G XP_024308867.1:p.Tyr5442Ter
XM_024453100.1:c.6180C>G XP_024308868.1:p.Tyr2060Ter