Canonical Allele Identifier: CA349454869

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544212A>C , CM000664.2:g.178544212A>C GRCh38
NC_000002.11:g.179408939A>C , CM000664.1:g.179408939A>C GRCh37
NC_000002.10:g.179117185A>C NCBI36
NG_011618.3:g.291591T>G , LRG_391:g.291591T>G
NG_051363.1:g.26386A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88313T>G (TTN) ENSP00000343764.6:p.Val29438Gly
ENST00000342175.11:c.69398T>G (TTN) ENSP00000340554.6:p.Val23133Gly
ENST00000359218.10:c.69197T>G (TTN) ENSP00000352154.5:p.Val23066Gly
ENST00000342175.10:c.69398T>G (TTN) ENSP00000340554.6:p.Val23133Gly
ENST00000342992.10:c.88313T>G (TTN) ENSP00000343764.6:p.Val29438Gly
ENST00000359218.9:c.69197T>G (TTN) ENSP00000352154.5:p.Val23066Gly
ENST00000460472.6:c.68822T>G (TTN) ENSP00000434586.1:p.Val22941Gly
ENST00000589042.5:c.96017T>G (TTN) MANE Select ENSP00000467141.1:p.Val32006Gly
ENST00000591111.5:c.91094T>G (TTN) ENSP00000465570.1:p.Val30365Gly
ENST00000615779.4:c.91094T>G (TTN) ENSP00000483597.1:p.Val30365Gly
NM_001256850.1:c.91094T>G (TTN) NP_001243779.1:p.Val30365Gly
NM_001267550.2:c.96017T>G (TTN) MANE Select NP_001254479.2:p.Val32006Gly
NM_003319.4:c.68822T>G (TTN) NP_003310.4:p.Val22941Gly
NM_133378.4:c.88313T>G (TTN) NP_596869.4:p.Val29438Gly
NM_133432.3:c.69197T>G (TTN) NP_597676.3:p.Val23066Gly
NM_133437.4:c.69398T>G (TTN) NP_597681.4:p.Val23133Gly
NR_038271.1:n.446+20576A>C (TTN-AS1)
NR_038272.1:n.2043+1851A>C (TTN-AS1)
XM_011511729.1:c.95114T>G (TTN) XP_011510031.1:p.Val31705Gly
XM_011511730.1:c.69008T>G (TTN) XP_011510032.1:p.Val23003Gly
XM_011511731.1:c.68867T>G (TTN) XP_011510033.1:p.Val22956Gly
XM_017004819.1:c.94910T>G (TTN) XP_016860308.1:p.Val31637Gly
XM_017004820.1:c.90308T>G (TTN) XP_016860309.1:p.Val30103Gly
XM_017004821.1:c.90305T>G (TTN) XP_016860310.1:p.Val30102Gly
XM_017004822.1:c.87347T>G (TTN) XP_016860311.1:p.Val29116Gly
XM_017004823.1:c.68963T>G (TTN) XP_016860312.1:p.Val22988Gly
XM_024453094.1:c.90458T>G (TTN) XP_024308862.1:p.Val30153Gly
XM_024453095.1:c.90455T>G (TTN) XP_024308863.1:p.Val30152Gly
XM_024453096.1:c.89888T>G (TTN) XP_024308864.1:p.Val29963Gly
XM_024453097.1:c.87230T>G (TTN) XP_024308865.1:p.Val29077Gly
XM_024453098.1:c.87149T>G (TTN) XP_024308866.1:p.Val29050Gly
XM_024453099.1:c.68912T>G (TTN) XP_024308867.1:p.Val22971Gly
XM_024453100.1:c.58766T>G (TTN) XP_024308868.1:p.Val19589Gly