Canonical Allele Identifier: CA349546277

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178602441T>A , CM000664.2:g.178602441T>A GRCh38
NC_000002.11:g.179467168T>A , CM000664.1:g.179467168T>A GRCh37
NC_000002.10:g.179175413T>A NCBI36
NG_011618.3:g.233362A>T , LRG_391:g.233362A>T
NG_051363.1:g.84615T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47257A>T (TTN) ENSP00000343764.6:p.Arg15753Ter
ENST00000342175.11:c.28342A>T (TTN) ENSP00000340554.6:p.Arg9448Ter
ENST00000359218.10:c.28141A>T (TTN) ENSP00000352154.5:p.Arg9381Ter
ENST00000342175.10:c.28342A>T (TTN) ENSP00000340554.6:p.Arg9448Ter
ENST00000342992.10:c.47257A>T (TTN) ENSP00000343764.6:p.Arg15753Ter
ENST00000359218.9:c.28141A>T (TTN) ENSP00000352154.5:p.Arg9381Ter
ENST00000460472.6:c.27766A>T (TTN) ENSP00000434586.1:p.Arg9256Ter
ENST00000589042.5:c.54961A>T (TTN) MANE Select ENSP00000467141.1:p.Arg18321Ter
ENST00000591111.5:c.50038A>T (TTN) ENSP00000465570.1:p.Arg16680Ter
ENST00000615779.4:c.50038A>T (TTN) ENSP00000483597.1:p.Arg16680Ter
NM_001256850.1:c.50038A>T (TTN) NP_001243779.1:p.Arg16680Ter
NM_001267550.2:c.54961A>T (TTN) MANE Select NP_001254479.2:p.Arg18321Ter
NM_003319.4:c.27766A>T (TTN) NP_003310.4:p.Arg9256Ter
NM_133378.4:c.47257A>T (TTN) NP_596869.4:p.Arg15753Ter
NM_133432.3:c.28141A>T (TTN) NP_597676.3:p.Arg9381Ter
NM_133437.4:c.28342A>T (TTN) NP_597681.4:p.Arg9448Ter
NR_038271.1:n.682+4760T>A (TTN-AS1)
NR_038272.1:n.3917+1774T>A (TTN-AS1)
XM_011511729.1:c.54058A>T (TTN) XP_011510031.1:p.Arg18020Ter
XM_011511730.1:c.27952A>T (TTN) XP_011510032.1:p.Arg9318Ter
XM_011511731.1:c.27811A>T (TTN) XP_011510033.1:p.Arg9271Ter
XM_017004819.1:c.53854A>T (TTN) XP_016860308.1:p.Arg17952Ter
XM_017004820.1:c.49252A>T (TTN) XP_016860309.1:p.Arg16418Ter
XM_017004821.1:c.49249A>T (TTN) XP_016860310.1:p.Arg16417Ter
XM_017004822.1:c.46291A>T (TTN) XP_016860311.1:p.Arg15431Ter
XM_017004823.1:c.27907A>T (TTN) XP_016860312.1:p.Arg9303Ter
XM_024453094.1:c.49402A>T (TTN) XP_024308862.1:p.Arg16468Ter
XM_024453095.1:c.49399A>T (TTN) XP_024308863.1:p.Arg16467Ter
XM_024453096.1:c.48832A>T (TTN) XP_024308864.1:p.Arg16278Ter
XM_024453097.1:c.46174A>T (TTN) XP_024308865.1:p.Arg15392Ter
XM_024453098.1:c.46093A>T (TTN) XP_024308866.1:p.Arg15365Ter
XM_024453099.1:c.27856A>T (TTN) XP_024308867.1:p.Arg9286Ter
XM_024453100.1:c.17710A>T (TTN) XP_024308868.1:p.Arg5904Ter