Canonical Allele Identifier: CA349407154

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530571G>C , CM000664.2:g.178530571G>C GRCh38
NC_000002.11:g.179395298G>C , CM000664.1:g.179395298G>C GRCh37
NC_000002.10:g.179103544G>C NCBI36
NG_011618.3:g.305232C>G , LRG_391:g.305232C>G
NG_051363.1:g.12745G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98340C>G (TTN) ENSP00000343764.6:p.Asn32780Lys
ENST00000342175.11:c.79425C>G (TTN) ENSP00000340554.6:p.Asn26475Lys
ENST00000359218.10:c.79224C>G (TTN) ENSP00000352154.5:p.Asn26408Lys
ENST00000342175.10:c.79425C>G (TTN) ENSP00000340554.6:p.Asn26475Lys
ENST00000342992.10:c.98340C>G (TTN) ENSP00000343764.6:p.Asn32780Lys
ENST00000359218.9:c.79224C>G (TTN) ENSP00000352154.5:p.Asn26408Lys
ENST00000460472.6:c.78849C>G (TTN) ENSP00000434586.1:p.Asn26283Lys
ENST00000589042.5:c.106044C>G (TTN) MANE Select ENSP00000467141.1:p.Asn35348Lys
ENST00000591111.5:c.101121C>G (TTN) ENSP00000465570.1:p.Asn33707Lys
ENST00000615779.4:c.101121C>G (TTN) ENSP00000483597.1:p.Asn33707Lys
NM_001256850.1:c.101121C>G (TTN) NP_001243779.1:p.Asn33707Lys
NM_001267550.2:c.106044C>G (TTN) MANE Select NP_001254479.2:p.Asn35348Lys
NM_003319.4:c.78849C>G (TTN) NP_003310.4:p.Asn26283Lys
NM_133378.4:c.98340C>G (TTN) NP_596869.4:p.Asn32780Lys
NM_133432.3:c.79224C>G (TTN) NP_597676.3:p.Asn26408Lys
NM_133437.4:c.79425C>G (TTN) NP_597681.4:p.Asn26475Lys
NR_038271.1:n.446+6935G>C (TTN-AS1)
NR_038272.1:n.220-5161G>C (TTN-AS1)
XM_011511729.1:c.105141C>G (TTN) XP_011510031.1:p.Asn35047Lys
XM_011511730.1:c.79035C>G (TTN) XP_011510032.1:p.Asn26345Lys
XM_011511731.1:c.78894C>G (TTN) XP_011510033.1:p.Asn26298Lys
XM_017004819.1:c.104937C>G (TTN) XP_016860308.1:p.Asn34979Lys
XM_017004820.1:c.100335C>G (TTN) XP_016860309.1:p.Asn33445Lys
XM_017004821.1:c.100332C>G (TTN) XP_016860310.1:p.Asn33444Lys
XM_017004822.1:c.97374C>G (TTN) XP_016860311.1:p.Asn32458Lys
XM_017004823.1:c.78990C>G (TTN) XP_016860312.1:p.Asn26330Lys
XM_024453094.1:c.100485C>G (TTN) XP_024308862.1:p.Asn33495Lys
XM_024453095.1:c.100482C>G (TTN) XP_024308863.1:p.Asn33494Lys
XM_024453096.1:c.99915C>G (TTN) XP_024308864.1:p.Asn33305Lys
XM_024453097.1:c.97257C>G (TTN) XP_024308865.1:p.Asn32419Lys
XM_024453098.1:c.97176C>G (TTN) XP_024308866.1:p.Asn32392Lys
XM_024453099.1:c.78939C>G (TTN) XP_024308867.1:p.Asn26313Lys
XM_024453100.1:c.68793C>G (TTN) XP_024308868.1:p.Asn22931Lys