Canonical Allele Identifier: CA349407148

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530569A>C , CM000664.2:g.178530569A>C GRCh38
NC_000002.11:g.179395296A>C , CM000664.1:g.179395296A>C GRCh37
NC_000002.10:g.179103542A>C NCBI36
NG_011618.3:g.305234T>G , LRG_391:g.305234T>G
NG_051363.1:g.12743A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98342T>G (TTN) ENSP00000343764.6:p.Leu32781Arg
ENST00000342175.11:c.79427T>G (TTN) ENSP00000340554.6:p.Leu26476Arg
ENST00000359218.10:c.79226T>G (TTN) ENSP00000352154.5:p.Leu26409Arg
ENST00000342175.10:c.79427T>G (TTN) ENSP00000340554.6:p.Leu26476Arg
ENST00000342992.10:c.98342T>G (TTN) ENSP00000343764.6:p.Leu32781Arg
ENST00000359218.9:c.79226T>G (TTN) ENSP00000352154.5:p.Leu26409Arg
ENST00000460472.6:c.78851T>G (TTN) ENSP00000434586.1:p.Leu26284Arg
ENST00000589042.5:c.106046T>G (TTN) MANE Select ENSP00000467141.1:p.Leu35349Arg
ENST00000591111.5:c.101123T>G (TTN) ENSP00000465570.1:p.Leu33708Arg
ENST00000615779.4:c.101123T>G (TTN) ENSP00000483597.1:p.Leu33708Arg
NM_001256850.1:c.101123T>G (TTN) NP_001243779.1:p.Leu33708Arg
NM_001267550.2:c.106046T>G (TTN) MANE Select NP_001254479.2:p.Leu35349Arg
NM_003319.4:c.78851T>G (TTN) NP_003310.4:p.Leu26284Arg
NM_133378.4:c.98342T>G (TTN) NP_596869.4:p.Leu32781Arg
NM_133432.3:c.79226T>G (TTN) NP_597676.3:p.Leu26409Arg
NM_133437.4:c.79427T>G (TTN) NP_597681.4:p.Leu26476Arg
NR_038271.1:n.446+6933A>C (TTN-AS1)
NR_038272.1:n.220-5163A>C (TTN-AS1)
XM_011511729.1:c.105143T>G (TTN) XP_011510031.1:p.Leu35048Arg
XM_011511730.1:c.79037T>G (TTN) XP_011510032.1:p.Leu26346Arg
XM_011511731.1:c.78896T>G (TTN) XP_011510033.1:p.Leu26299Arg
XM_017004819.1:c.104939T>G (TTN) XP_016860308.1:p.Leu34980Arg
XM_017004820.1:c.100337T>G (TTN) XP_016860309.1:p.Leu33446Arg
XM_017004821.1:c.100334T>G (TTN) XP_016860310.1:p.Leu33445Arg
XM_017004822.1:c.97376T>G (TTN) XP_016860311.1:p.Leu32459Arg
XM_017004823.1:c.78992T>G (TTN) XP_016860312.1:p.Leu26331Arg
XM_024453094.1:c.100487T>G (TTN) XP_024308862.1:p.Leu33496Arg
XM_024453095.1:c.100484T>G (TTN) XP_024308863.1:p.Leu33495Arg
XM_024453096.1:c.99917T>G (TTN) XP_024308864.1:p.Leu33306Arg
XM_024453097.1:c.97259T>G (TTN) XP_024308865.1:p.Leu32420Arg
XM_024453098.1:c.97178T>G (TTN) XP_024308866.1:p.Leu32393Arg
XM_024453099.1:c.78941T>G (TTN) XP_024308867.1:p.Leu26314Arg
XM_024453100.1:c.68795T>G (TTN) XP_024308868.1:p.Leu22932Arg