Canonical Allele Identifier: CA349407282

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530628A>C , CM000664.2:g.178530628A>C GRCh38
NC_000002.11:g.179395355A>C , CM000664.1:g.179395355A>C GRCh37
NC_000002.10:g.179103601A>C NCBI36
NG_011618.3:g.305175T>G , LRG_391:g.305175T>G
NG_051363.1:g.12802A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98283T>G (TTN) ENSP00000343764.6:p.Asn32761Lys
ENST00000342175.11:c.79368T>G (TTN) ENSP00000340554.6:p.Asn26456Lys
ENST00000359218.10:c.79167T>G (TTN) ENSP00000352154.5:p.Asn26389Lys
ENST00000342175.10:c.79368T>G (TTN) ENSP00000340554.6:p.Asn26456Lys
ENST00000342992.10:c.98283T>G (TTN) ENSP00000343764.6:p.Asn32761Lys
ENST00000359218.9:c.79167T>G (TTN) ENSP00000352154.5:p.Asn26389Lys
ENST00000460472.6:c.78792T>G (TTN) ENSP00000434586.1:p.Asn26264Lys
ENST00000589042.5:c.105987T>G (TTN) MANE Select ENSP00000467141.1:p.Asn35329Lys
ENST00000591111.5:c.101064T>G (TTN) ENSP00000465570.1:p.Asn33688Lys
ENST00000615779.4:c.101064T>G (TTN) ENSP00000483597.1:p.Asn33688Lys
NM_001256850.1:c.101064T>G (TTN) NP_001243779.1:p.Asn33688Lys
NM_001267550.2:c.105987T>G (TTN) MANE Select NP_001254479.2:p.Asn35329Lys
NM_003319.4:c.78792T>G (TTN) NP_003310.4:p.Asn26264Lys
NM_133378.4:c.98283T>G (TTN) NP_596869.4:p.Asn32761Lys
NM_133432.3:c.79167T>G (TTN) NP_597676.3:p.Asn26389Lys
NM_133437.4:c.79368T>G (TTN) NP_597681.4:p.Asn26456Lys
NR_038271.1:n.446+6992A>C (TTN-AS1)
NR_038272.1:n.220-5104A>C (TTN-AS1)
XM_011511729.1:c.105084T>G (TTN) XP_011510031.1:p.Asn35028Lys
XM_011511730.1:c.78978T>G (TTN) XP_011510032.1:p.Asn26326Lys
XM_011511731.1:c.78837T>G (TTN) XP_011510033.1:p.Asn26279Lys
XM_017004819.1:c.104880T>G (TTN) XP_016860308.1:p.Asn34960Lys
XM_017004820.1:c.100278T>G (TTN) XP_016860309.1:p.Asn33426Lys
XM_017004821.1:c.100275T>G (TTN) XP_016860310.1:p.Asn33425Lys
XM_017004822.1:c.97317T>G (TTN) XP_016860311.1:p.Asn32439Lys
XM_017004823.1:c.78933T>G (TTN) XP_016860312.1:p.Asn26311Lys
XM_024453094.1:c.100428T>G (TTN) XP_024308862.1:p.Asn33476Lys
XM_024453095.1:c.100425T>G (TTN) XP_024308863.1:p.Asn33475Lys
XM_024453096.1:c.99858T>G (TTN) XP_024308864.1:p.Asn33286Lys
XM_024453097.1:c.97200T>G (TTN) XP_024308865.1:p.Asn32400Lys
XM_024453098.1:c.97119T>G (TTN) XP_024308866.1:p.Asn32373Lys
XM_024453099.1:c.78882T>G (TTN) XP_024308867.1:p.Asn26294Lys
XM_024453100.1:c.68736T>G (TTN) XP_024308868.1:p.Asn22912Lys