Canonical Allele Identifier: CA349398201

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527046G>A , CM000664.2:g.178527046G>A GRCh38
NC_000002.11:g.179391773G>A , CM000664.1:g.179391773G>A GRCh37
NC_000002.10:g.179100019G>A NCBI36
NG_011618.3:g.308757C>T , LRG_391:g.308757C>T
NG_051363.1:g.9220G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100238C>T (TTN) ENSP00000343764.6:p.Ser33413Phe
ENST00000342175.11:c.81323C>T (TTN) ENSP00000340554.6:p.Ser27108Phe
ENST00000359218.10:c.81122C>T (TTN) ENSP00000352154.5:p.Ser27041Phe
ENST00000342175.10:c.81323C>T (TTN) ENSP00000340554.6:p.Ser27108Phe
ENST00000342992.10:c.100238C>T (TTN) ENSP00000343764.6:p.Ser33413Phe
ENST00000359218.9:c.81122C>T (TTN) ENSP00000352154.5:p.Ser27041Phe
ENST00000460472.6:c.80747C>T (TTN) ENSP00000434586.1:p.Ser26916Phe
ENST00000589042.5:c.107942C>T (TTN) MANE Select ENSP00000467141.1:p.Ser35981Phe
ENST00000591111.5:c.103019C>T (TTN) ENSP00000465570.1:p.Ser34340Phe
ENST00000615779.4:c.103019C>T (TTN) ENSP00000483597.1:p.Ser34340Phe
NM_001256850.1:c.103019C>T (TTN) NP_001243779.1:p.Ser34340Phe
NM_001267550.2:c.107942C>T (TTN) MANE Select NP_001254479.2:p.Ser35981Phe
NM_003319.4:c.80747C>T (TTN) NP_003310.4:p.Ser26916Phe
NM_133378.4:c.100238C>T (TTN) NP_596869.4:p.Ser33413Phe
NM_133432.3:c.81122C>T (TTN) NP_597676.3:p.Ser27041Phe
NM_133437.4:c.81323C>T (TTN) NP_597681.4:p.Ser27108Phe
NR_038271.1:n.446+3410G>A (TTN-AS1)
NR_038272.1:n.219+3410G>A (TTN-AS1)
XM_011511729.1:c.107039C>T (TTN) XP_011510031.1:p.Ser35680Phe
XM_011511730.1:c.80933C>T (TTN) XP_011510032.1:p.Ser26978Phe
XM_011511731.1:c.80792C>T (TTN) XP_011510033.1:p.Ser26931Phe
XM_017004819.1:c.106835C>T (TTN) XP_016860308.1:p.Ser35612Phe
XM_017004820.1:c.102233C>T (TTN) XP_016860309.1:p.Ser34078Phe
XM_017004821.1:c.102230C>T (TTN) XP_016860310.1:p.Ser34077Phe
XM_017004822.1:c.99272C>T (TTN) XP_016860311.1:p.Ser33091Phe
XM_017004823.1:c.80888C>T (TTN) XP_016860312.1:p.Ser26963Phe
XM_024453094.1:c.102383C>T (TTN) XP_024308862.1:p.Ser34128Phe
XM_024453095.1:c.102380C>T (TTN) XP_024308863.1:p.Ser34127Phe
XM_024453096.1:c.101813C>T (TTN) XP_024308864.1:p.Ser33938Phe
XM_024453097.1:c.99155C>T (TTN) XP_024308865.1:p.Ser33052Phe
XM_024453098.1:c.99074C>T (TTN) XP_024308866.1:p.Ser33025Phe
XM_024453099.1:c.80837C>T (TTN) XP_024308867.1:p.Ser26946Phe
XM_024453100.1:c.70691C>T (TTN) XP_024308868.1:p.Ser23564Phe