Canonical Allele Identifier: CA349405484

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530085G>T , CM000664.2:g.178530085G>T GRCh38
NC_000002.11:g.179394812G>T , CM000664.1:g.179394812G>T GRCh37
NC_000002.10:g.179103058G>T NCBI36
NG_011618.3:g.305718C>A , LRG_391:g.305718C>A
NG_051363.1:g.12259G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98702C>A (TTN) ENSP00000343764.6:p.Ser32901Tyr
ENST00000342175.11:c.79787C>A (TTN) ENSP00000340554.6:p.Ser26596Tyr
ENST00000359218.10:c.79586C>A (TTN) ENSP00000352154.5:p.Ser26529Tyr
ENST00000342175.10:c.79787C>A (TTN) ENSP00000340554.6:p.Ser26596Tyr
ENST00000342992.10:c.98702C>A (TTN) ENSP00000343764.6:p.Ser32901Tyr
ENST00000359218.9:c.79586C>A (TTN) ENSP00000352154.5:p.Ser26529Tyr
ENST00000460472.6:c.79211C>A (TTN) ENSP00000434586.1:p.Ser26404Tyr
ENST00000589042.5:c.106406C>A (TTN) MANE Select ENSP00000467141.1:p.Ser35469Tyr
ENST00000591111.5:c.101483C>A (TTN) ENSP00000465570.1:p.Ser33828Tyr
ENST00000615779.4:c.101483C>A (TTN) ENSP00000483597.1:p.Ser33828Tyr
NM_001256850.1:c.101483C>A (TTN) NP_001243779.1:p.Ser33828Tyr
NM_001267550.2:c.106406C>A (TTN) MANE Select NP_001254479.2:p.Ser35469Tyr
NM_003319.4:c.79211C>A (TTN) NP_003310.4:p.Ser26404Tyr
NM_133378.4:c.98702C>A (TTN) NP_596869.4:p.Ser32901Tyr
NM_133432.3:c.79586C>A (TTN) NP_597676.3:p.Ser26529Tyr
NM_133437.4:c.79787C>A (TTN) NP_597681.4:p.Ser26596Tyr
NR_038271.1:n.446+6449G>T (TTN-AS1)
NR_038272.1:n.220-5647G>T (TTN-AS1)
XM_011511729.1:c.105503C>A (TTN) XP_011510031.1:p.Ser35168Tyr
XM_011511730.1:c.79397C>A (TTN) XP_011510032.1:p.Ser26466Tyr
XM_011511731.1:c.79256C>A (TTN) XP_011510033.1:p.Ser26419Tyr
XM_017004819.1:c.105299C>A (TTN) XP_016860308.1:p.Ser35100Tyr
XM_017004820.1:c.100697C>A (TTN) XP_016860309.1:p.Ser33566Tyr
XM_017004821.1:c.100694C>A (TTN) XP_016860310.1:p.Ser33565Tyr
XM_017004822.1:c.97736C>A (TTN) XP_016860311.1:p.Ser32579Tyr
XM_017004823.1:c.79352C>A (TTN) XP_016860312.1:p.Ser26451Tyr
XM_024453094.1:c.100847C>A (TTN) XP_024308862.1:p.Ser33616Tyr
XM_024453095.1:c.100844C>A (TTN) XP_024308863.1:p.Ser33615Tyr
XM_024453096.1:c.100277C>A (TTN) XP_024308864.1:p.Ser33426Tyr
XM_024453097.1:c.97619C>A (TTN) XP_024308865.1:p.Ser32540Tyr
XM_024453098.1:c.97538C>A (TTN) XP_024308866.1:p.Ser32513Tyr
XM_024453099.1:c.79301C>A (TTN) XP_024308867.1:p.Ser26434Tyr
XM_024453100.1:c.69155C>A (TTN) XP_024308868.1:p.Ser23052Tyr