Canonical Allele Identifier: CA349446320

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543338A>C , CM000664.2:g.178543338A>C GRCh38
NC_000002.11:g.179408065A>C , CM000664.1:g.179408065A>C GRCh37
NC_000002.10:g.179116311A>C NCBI36
NG_011618.3:g.292465T>G , LRG_391:g.292465T>G
NG_051363.1:g.25512A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88931T>G (TTN) ENSP00000343764.6:p.Val29644Gly
ENST00000342175.11:c.70016T>G (TTN) ENSP00000340554.6:p.Val23339Gly
ENST00000359218.10:c.69815T>G (TTN) ENSP00000352154.5:p.Val23272Gly
ENST00000342175.10:c.70016T>G (TTN) ENSP00000340554.6:p.Val23339Gly
ENST00000342992.10:c.88931T>G (TTN) ENSP00000343764.6:p.Val29644Gly
ENST00000359218.9:c.69815T>G (TTN) ENSP00000352154.5:p.Val23272Gly
ENST00000460472.6:c.69440T>G (TTN) ENSP00000434586.1:p.Val23147Gly
ENST00000589042.5:c.96635T>G (TTN) MANE Select ENSP00000467141.1:p.Val32212Gly
ENST00000591111.5:c.91712T>G (TTN) ENSP00000465570.1:p.Val30571Gly
ENST00000615779.4:c.91712T>G (TTN) ENSP00000483597.1:p.Val30571Gly
NM_001256850.1:c.91712T>G (TTN) NP_001243779.1:p.Val30571Gly
NM_001267550.2:c.96635T>G (TTN) MANE Select NP_001254479.2:p.Val32212Gly
NM_003319.4:c.69440T>G (TTN) NP_003310.4:p.Val23147Gly
NM_133378.4:c.88931T>G (TTN) NP_596869.4:p.Val29644Gly
NM_133432.3:c.69815T>G (TTN) NP_597676.3:p.Val23272Gly
NM_133437.4:c.70016T>G (TTN) NP_597681.4:p.Val23339Gly
NR_038271.1:n.446+19702A>C (TTN-AS1)
NR_038272.1:n.2043+977A>C (TTN-AS1)
XM_011511729.1:c.95732T>G (TTN) XP_011510031.1:p.Val31911Gly
XM_011511730.1:c.69626T>G (TTN) XP_011510032.1:p.Val23209Gly
XM_011511731.1:c.69485T>G (TTN) XP_011510033.1:p.Val23162Gly
XM_017004819.1:c.95528T>G (TTN) XP_016860308.1:p.Val31843Gly
XM_017004820.1:c.90926T>G (TTN) XP_016860309.1:p.Val30309Gly
XM_017004821.1:c.90923T>G (TTN) XP_016860310.1:p.Val30308Gly
XM_017004822.1:c.87965T>G (TTN) XP_016860311.1:p.Val29322Gly
XM_017004823.1:c.69581T>G (TTN) XP_016860312.1:p.Val23194Gly
XM_024453094.1:c.91076T>G (TTN) XP_024308862.1:p.Val30359Gly
XM_024453095.1:c.91073T>G (TTN) XP_024308863.1:p.Val30358Gly
XM_024453096.1:c.90506T>G (TTN) XP_024308864.1:p.Val30169Gly
XM_024453097.1:c.87848T>G (TTN) XP_024308865.1:p.Val29283Gly
XM_024453098.1:c.87767T>G (TTN) XP_024308866.1:p.Val29256Gly
XM_024453099.1:c.69530T>G (TTN) XP_024308867.1:p.Val23177Gly
XM_024453100.1:c.59384T>G (TTN) XP_024308868.1:p.Val19795Gly