Canonical Allele Identifier: CA430271203

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.44832C>T (TTN) ENSP00000343764.6:p.Asn14944=
ENST00000342175.11:c.25917C>T (TTN) ENSP00000340554.6:p.Asn8639=
ENST00000359218.10:c.25716C>T (TTN) ENSP00000352154.5:p.Asn8572=
ENST00000342175.10:c.25917C>T (TTN) ENSP00000340554.6:p.Asn8639=
ENST00000342992.10:c.44832C>T (TTN) ENSP00000343764.6:p.Asn14944=
ENST00000359218.9:c.25716C>T (TTN) ENSP00000352154.5:p.Asn8572=
ENST00000460472.6:c.25341C>T (TTN) ENSP00000434586.1:p.Asn8447=
ENST00000589042.5:c.52536C>T (TTN) MANE Select ENSP00000467141.1:p.Asn17512=
ENST00000591111.5:c.47613C>T (TTN) ENSP00000465570.1:p.Asn15871=
ENST00000615779.4:c.47613C>T (TTN) ENSP00000483597.1:p.Asn15871=
NM_001256850.1:c.47613C>T (TTN) NP_001243779.1:p.Asn15871=
NM_001267550.2:c.52536C>T (TTN) MANE Select NP_001254479.2:p.Asn17512=
NM_003319.4:c.25341C>T (TTN) NP_003310.4:p.Asn8447=
NM_133378.4:c.44832C>T (TTN) NP_596869.4:p.Asn14944=
NM_133432.3:c.25716C>T (TTN) NP_597676.3:p.Asn8572=
NM_133437.4:c.25917C>T (TTN) NP_597681.4:p.Asn8639=
NR_038271.1:n.782+81G>A (TTN-AS1)
XM_011511729.1:c.51633C>T (TTN) XP_011510031.1:p.Asn17211=
XM_011511730.1:c.25527C>T (TTN) XP_011510032.1:p.Asn8509=
XM_011511731.1:c.25386C>T (TTN) XP_011510033.1:p.Asn8462=
XM_017004819.1:c.51429C>T (TTN) XP_016860308.1:p.Asn17143=
XM_017004820.1:c.46827C>T (TTN) XP_016860309.1:p.Asn15609=
XM_017004821.1:c.46824C>T (TTN) XP_016860310.1:p.Asn15608=
XM_017004822.1:c.43866C>T (TTN) XP_016860311.1:p.Asn14622=
XM_017004823.1:c.25482C>T (TTN) XP_016860312.1:p.Asn8494=
XM_024453094.1:c.46977C>T (TTN) XP_024308862.1:p.Asn15659=
XM_024453095.1:c.46974C>T (TTN) XP_024308863.1:p.Asn15658=
XM_024453096.1:c.46407C>T (TTN) XP_024308864.1:p.Asn15469=
XM_024453097.1:c.43749C>T (TTN) XP_024308865.1:p.Asn14583=
XM_024453098.1:c.43668C>T (TTN) XP_024308866.1:p.Asn14556=
XM_024453099.1:c.25431C>T (TTN) XP_024308867.1:p.Asn8477=
XM_024453100.1:c.15285C>T (TTN) XP_024308868.1:p.Asn5095=