Canonical Allele Identifier: CA349417045

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533958A>C , CM000664.2:g.178533958A>C GRCh38
NC_000002.11:g.179398685A>C , CM000664.1:g.179398685A>C GRCh37
NC_000002.10:g.179106931A>C NCBI36
NG_011618.3:g.301845T>G , LRG_391:g.301845T>G
NG_051363.1:g.16132A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.94953T>G (TTN) ENSP00000343764.6:p.Ser31651Arg
ENST00000342175.11:c.76038T>G (TTN) ENSP00000340554.6:p.Ser25346Arg
ENST00000359218.10:c.75837T>G (TTN) ENSP00000352154.5:p.Ser25279Arg
ENST00000342175.10:c.76038T>G (TTN) ENSP00000340554.6:p.Ser25346Arg
ENST00000342992.10:c.94953T>G (TTN) ENSP00000343764.6:p.Ser31651Arg
ENST00000359218.9:c.75837T>G (TTN) ENSP00000352154.5:p.Ser25279Arg
ENST00000460472.6:c.75462T>G (TTN) ENSP00000434586.1:p.Ser25154Arg
ENST00000589042.5:c.102657T>G (TTN) MANE Select ENSP00000467141.1:p.Ser34219Arg
ENST00000591111.5:c.97734T>G (TTN) ENSP00000465570.1:p.Ser32578Arg
ENST00000615779.4:c.97734T>G (TTN) ENSP00000483597.1:p.Ser32578Arg
NM_001256850.1:c.97734T>G (TTN) NP_001243779.1:p.Ser32578Arg
NM_001267550.2:c.102657T>G (TTN) MANE Select NP_001254479.2:p.Ser34219Arg
NM_003319.4:c.75462T>G (TTN) NP_003310.4:p.Ser25154Arg
NM_133378.4:c.94953T>G (TTN) NP_596869.4:p.Ser31651Arg
NM_133432.3:c.75837T>G (TTN) NP_597676.3:p.Ser25279Arg
NM_133437.4:c.76038T>G (TTN) NP_597681.4:p.Ser25346Arg
NR_038271.1:n.446+10322A>C (TTN-AS1)
NR_038272.1:n.220-1774A>C (TTN-AS1)
XM_011511729.1:c.101754T>G (TTN) XP_011510031.1:p.Ser33918Arg
XM_011511730.1:c.75648T>G (TTN) XP_011510032.1:p.Ser25216Arg
XM_011511731.1:c.75507T>G (TTN) XP_011510033.1:p.Ser25169Arg
XM_017004819.1:c.101550T>G (TTN) XP_016860308.1:p.Ser33850Arg
XM_017004820.1:c.96948T>G (TTN) XP_016860309.1:p.Ser32316Arg
XM_017004821.1:c.96945T>G (TTN) XP_016860310.1:p.Ser32315Arg
XM_017004822.1:c.93987T>G (TTN) XP_016860311.1:p.Ser31329Arg
XM_017004823.1:c.75603T>G (TTN) XP_016860312.1:p.Ser25201Arg
XM_024453094.1:c.97098T>G (TTN) XP_024308862.1:p.Ser32366Arg
XM_024453095.1:c.97095T>G (TTN) XP_024308863.1:p.Ser32365Arg
XM_024453096.1:c.96528T>G (TTN) XP_024308864.1:p.Ser32176Arg
XM_024453097.1:c.93870T>G (TTN) XP_024308865.1:p.Ser31290Arg
XM_024453098.1:c.93789T>G (TTN) XP_024308866.1:p.Ser31263Arg
XM_024453099.1:c.75552T>G (TTN) XP_024308867.1:p.Ser25184Arg
XM_024453100.1:c.65406T>G (TTN) XP_024308868.1:p.Ser21802Arg