Canonical Allele Identifier: CA349405476

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98702C>T (TTN) ENSP00000343764.6:p.Ser32901Phe
ENST00000342175.11:c.79787C>T (TTN) ENSP00000340554.6:p.Ser26596Phe
ENST00000359218.10:c.79586C>T (TTN) ENSP00000352154.5:p.Ser26529Phe
ENST00000342175.10:c.79787C>T (TTN) ENSP00000340554.6:p.Ser26596Phe
ENST00000342992.10:c.98702C>T (TTN) ENSP00000343764.6:p.Ser32901Phe
ENST00000359218.9:c.79586C>T (TTN) ENSP00000352154.5:p.Ser26529Phe
ENST00000460472.6:c.79211C>T (TTN) ENSP00000434586.1:p.Ser26404Phe
ENST00000589042.5:c.106406C>T (TTN) MANE Select ENSP00000467141.1:p.Ser35469Phe
ENST00000591111.5:c.101483C>T (TTN) ENSP00000465570.1:p.Ser33828Phe
ENST00000615779.4:c.101483C>T (TTN) ENSP00000483597.1:p.Ser33828Phe
NM_001256850.1:c.101483C>T (TTN) NP_001243779.1:p.Ser33828Phe
NM_001267550.2:c.106406C>T (TTN) MANE Select NP_001254479.2:p.Ser35469Phe
NM_003319.4:c.79211C>T (TTN) NP_003310.4:p.Ser26404Phe
NM_133378.4:c.98702C>T (TTN) NP_596869.4:p.Ser32901Phe
NM_133432.3:c.79586C>T (TTN) NP_597676.3:p.Ser26529Phe
NM_133437.4:c.79787C>T (TTN) NP_597681.4:p.Ser26596Phe
NR_038271.1:n.446+6449G>A (TTN-AS1)
NR_038272.1:n.220-5647G>A (TTN-AS1)
XM_011511729.1:c.105503C>T (TTN) XP_011510031.1:p.Ser35168Phe
XM_011511730.1:c.79397C>T (TTN) XP_011510032.1:p.Ser26466Phe
XM_011511731.1:c.79256C>T (TTN) XP_011510033.1:p.Ser26419Phe
XM_017004819.1:c.105299C>T (TTN) XP_016860308.1:p.Ser35100Phe
XM_017004820.1:c.100697C>T (TTN) XP_016860309.1:p.Ser33566Phe
XM_017004821.1:c.100694C>T (TTN) XP_016860310.1:p.Ser33565Phe
XM_017004822.1:c.97736C>T (TTN) XP_016860311.1:p.Ser32579Phe
XM_017004823.1:c.79352C>T (TTN) XP_016860312.1:p.Ser26451Phe
XM_024453094.1:c.100847C>T (TTN) XP_024308862.1:p.Ser33616Phe
XM_024453095.1:c.100844C>T (TTN) XP_024308863.1:p.Ser33615Phe
XM_024453096.1:c.100277C>T (TTN) XP_024308864.1:p.Ser33426Phe
XM_024453097.1:c.97619C>T (TTN) XP_024308865.1:p.Ser32540Phe
XM_024453098.1:c.97538C>T (TTN) XP_024308866.1:p.Ser32513Phe
XM_024453099.1:c.79301C>T (TTN) XP_024308867.1:p.Ser26434Phe
XM_024453100.1:c.69155C>T (TTN) XP_024308868.1:p.Ser23052Phe