Canonical Allele Identifier: CA349573075

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178608347G>T , CM000664.2:g.178608347G>T GRCh38
NC_000002.11:g.179473074G>T , CM000664.1:g.179473074G>T GRCh37
NC_000002.10:g.179181319G>T NCBI36
NG_011618.3:g.227456C>A , LRG_391:g.227456C>A
NG_051363.1:g.90521G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.44832C>A (TTN) ENSP00000343764.6:p.Asn14944Lys
ENST00000342175.11:c.25917C>A (TTN) ENSP00000340554.6:p.Asn8639Lys
ENST00000359218.10:c.25716C>A (TTN) ENSP00000352154.5:p.Asn8572Lys
ENST00000342175.10:c.25917C>A (TTN) ENSP00000340554.6:p.Asn8639Lys
ENST00000342992.10:c.44832C>A (TTN) ENSP00000343764.6:p.Asn14944Lys
ENST00000359218.9:c.25716C>A (TTN) ENSP00000352154.5:p.Asn8572Lys
ENST00000460472.6:c.25341C>A (TTN) ENSP00000434586.1:p.Asn8447Lys
ENST00000589042.5:c.52536C>A (TTN) MANE Select ENSP00000467141.1:p.Asn17512Lys
ENST00000591111.5:c.47613C>A (TTN) ENSP00000465570.1:p.Asn15871Lys
ENST00000615779.4:c.47613C>A (TTN) ENSP00000483597.1:p.Asn15871Lys
NM_001256850.1:c.47613C>A (TTN) NP_001243779.1:p.Asn15871Lys
NM_001267550.2:c.52536C>A (TTN) MANE Select NP_001254479.2:p.Asn17512Lys
NM_003319.4:c.25341C>A (TTN) NP_003310.4:p.Asn8447Lys
NM_133378.4:c.44832C>A (TTN) NP_596869.4:p.Asn14944Lys
NM_133432.3:c.25716C>A (TTN) NP_597676.3:p.Asn8572Lys
NM_133437.4:c.25917C>A (TTN) NP_597681.4:p.Asn8639Lys
NR_038271.1:n.782+81G>T (TTN-AS1)
XM_011511729.1:c.51633C>A (TTN) XP_011510031.1:p.Asn17211Lys
XM_011511730.1:c.25527C>A (TTN) XP_011510032.1:p.Asn8509Lys
XM_011511731.1:c.25386C>A (TTN) XP_011510033.1:p.Asn8462Lys
XM_017004819.1:c.51429C>A (TTN) XP_016860308.1:p.Asn17143Lys
XM_017004820.1:c.46827C>A (TTN) XP_016860309.1:p.Asn15609Lys
XM_017004821.1:c.46824C>A (TTN) XP_016860310.1:p.Asn15608Lys
XM_017004822.1:c.43866C>A (TTN) XP_016860311.1:p.Asn14622Lys
XM_017004823.1:c.25482C>A (TTN) XP_016860312.1:p.Asn8494Lys
XM_024453094.1:c.46977C>A (TTN) XP_024308862.1:p.Asn15659Lys
XM_024453095.1:c.46974C>A (TTN) XP_024308863.1:p.Asn15658Lys
XM_024453096.1:c.46407C>A (TTN) XP_024308864.1:p.Asn15469Lys
XM_024453097.1:c.43749C>A (TTN) XP_024308865.1:p.Asn14583Lys
XM_024453098.1:c.43668C>A (TTN) XP_024308866.1:p.Asn14556Lys
XM_024453099.1:c.25431C>A (TTN) XP_024308867.1:p.Asn8477Lys
XM_024453100.1:c.15285C>A (TTN) XP_024308868.1:p.Asn5095Lys