Canonical Allele Identifier: CA349573283
Community Standard Title: NM_001267550.2(TTN):c.52512C>G (p.Tyr17504Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178608371G>C , CM000664.2:g.178608371G>C GRCh38
NC_000002.11:g.179473098G>C , CM000664.1:g.179473098G>C GRCh37
NC_000002.10:g.179181343G>C NCBI36
NG_011618.3:g.227432C>G , LRG_391:g.227432C>G
NG_051363.1:g.90545G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.52512C>G (TTN) MANE Select NP_001254479.2:p.Tyr17504Ter
ENST00000589042.5:c.52512C>G (TTN) MANE Select ENSP00000467141.1:p.Tyr17504Ter
NM_001256850.1:c.47589C>G (TTN) NP_001243779.1:p.Tyr15863Ter
NM_003319.4:c.25317C>G (TTN) NP_003310.4:p.Tyr8439Ter
NM_133378.4:c.44808C>G (TTN) NP_596869.4:p.Tyr14936Ter
NM_133432.3:c.25692C>G (TTN) NP_597676.3:p.Tyr8564Ter
NM_133437.4:c.25893C>G (TTN) NP_597681.4:p.Tyr8631Ter
NR_038271.1:n.782+105G>C (TTN-AS1)
ENST00000342175.10:c.25893C>G (TTN) ENSP00000340554.6:p.Tyr8631Ter
ENST00000342175.11:c.25893C>G (TTN) ENSP00000340554.6:p.Tyr8631Ter
ENST00000342992.10:c.44808C>G (TTN) ENSP00000343764.6:p.Tyr14936Ter
ENST00000342992.11:c.44808C>G (TTN) ENSP00000343764.6:p.Tyr14936Ter
ENST00000359218.10:c.25692C>G (TTN) ENSP00000352154.5:p.Tyr8564Ter
ENST00000359218.9:c.25692C>G (TTN) ENSP00000352154.5:p.Tyr8564Ter
ENST00000460472.6:c.25317C>G (TTN) ENSP00000434586.1:p.Tyr8439Ter
ENST00000591111.5:c.47589C>G (TTN) ENSP00000465570.1:p.Tyr15863Ter
ENST00000615779.4:c.47589C>G (TTN) ENSP00000483597.1:p.Tyr15863Ter
XM_011511729.1:c.51609C>G (TTN) XP_011510031.1:p.Tyr17203Ter
XM_011511730.1:c.25503C>G (TTN) XP_011510032.1:p.Tyr8501Ter
XM_011511731.1:c.25362C>G (TTN) XP_011510033.1:p.Tyr8454Ter
XM_017004819.1:c.51405C>G (TTN) XP_016860308.1:p.Tyr17135Ter
XM_017004820.1:c.46803C>G (TTN) XP_016860309.1:p.Tyr15601Ter
XM_017004821.1:c.46800C>G (TTN) XP_016860310.1:p.Tyr15600Ter
XM_017004822.1:c.43842C>G (TTN) XP_016860311.1:p.Tyr14614Ter
XM_017004823.1:c.25458C>G (TTN) XP_016860312.1:p.Tyr8486Ter
XM_024453094.1:c.46953C>G (TTN) XP_024308862.1:p.Tyr15651Ter
XM_024453095.1:c.46950C>G (TTN) XP_024308863.1:p.Tyr15650Ter
XM_024453096.1:c.46383C>G (TTN) XP_024308864.1:p.Tyr15461Ter
XM_024453097.1:c.43725C>G (TTN) XP_024308865.1:p.Tyr14575Ter
XM_024453098.1:c.43644C>G (TTN) XP_024308866.1:p.Tyr14548Ter
XM_024453099.1:c.25407C>G (TTN) XP_024308867.1:p.Tyr8469Ter
XM_024453100.1:c.15261C>G (TTN) XP_024308868.1:p.Tyr5087Ter