Canonical Allele Identifier: CA349551972

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560526G>A , CM000664.2:g.178560526G>A GRCh38
NC_000002.11:g.179425253G>A , CM000664.1:g.179425253G>A GRCh37
NC_000002.10:g.179133499G>A NCBI36
NG_011618.3:g.275277C>T , LRG_391:g.275277C>T
NG_051363.1:g.42700G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.77902C>T (TTN) ENSP00000343764.6:p.Pro25968Ser
ENST00000342175.11:c.58987C>T (TTN) ENSP00000340554.6:p.Pro19663Ser
ENST00000359218.10:c.58786C>T (TTN) ENSP00000352154.5:p.Pro19596Ser
ENST00000342175.10:c.58987C>T (TTN) ENSP00000340554.6:p.Pro19663Ser
ENST00000342992.10:c.77902C>T (TTN) ENSP00000343764.6:p.Pro25968Ser
ENST00000359218.9:c.58786C>T (TTN) ENSP00000352154.5:p.Pro19596Ser
ENST00000460472.6:c.58411C>T (TTN) ENSP00000434586.1:p.Pro19471Ser
ENST00000589042.5:c.85606C>T (TTN) MANE Select ENSP00000467141.1:p.Pro28536Ser
ENST00000591111.5:c.80683C>T (TTN) ENSP00000465570.1:p.Pro26895Ser
ENST00000615779.4:c.80683C>T (TTN) ENSP00000483597.1:p.Pro26895Ser
NM_001256850.1:c.80683C>T (TTN) NP_001243779.1:p.Pro26895Ser
NM_001267550.2:c.85606C>T (TTN) MANE Select NP_001254479.2:p.Pro28536Ser
NM_003319.4:c.58411C>T (TTN) NP_003310.4:p.Pro19471Ser
NM_133378.4:c.77902C>T (TTN) NP_596869.4:p.Pro25968Ser
NM_133432.3:c.58786C>T (TTN) NP_597676.3:p.Pro19596Ser
NM_133437.4:c.58987C>T (TTN) NP_597681.4:p.Pro19663Ser
NR_038271.1:n.447-10774G>A (TTN-AS1)
NR_038272.1:n.2043+18165G>A (TTN-AS1)
XM_011511729.1:c.84703C>T (TTN) XP_011510031.1:p.Pro28235Ser
XM_011511730.1:c.58597C>T (TTN) XP_011510032.1:p.Pro19533Ser
XM_011511731.1:c.58456C>T (TTN) XP_011510033.1:p.Pro19486Ser
XM_017004819.1:c.84499C>T (TTN) XP_016860308.1:p.Pro28167Ser
XM_017004820.1:c.79897C>T (TTN) XP_016860309.1:p.Pro26633Ser
XM_017004821.1:c.79894C>T (TTN) XP_016860310.1:p.Pro26632Ser
XM_017004822.1:c.76936C>T (TTN) XP_016860311.1:p.Pro25646Ser
XM_017004823.1:c.58552C>T (TTN) XP_016860312.1:p.Pro19518Ser
XM_024453094.1:c.80047C>T (TTN) XP_024308862.1:p.Pro26683Ser
XM_024453095.1:c.80044C>T (TTN) XP_024308863.1:p.Pro26682Ser
XM_024453096.1:c.79477C>T (TTN) XP_024308864.1:p.Pro26493Ser
XM_024453097.1:c.76819C>T (TTN) XP_024308865.1:p.Pro25607Ser
XM_024453098.1:c.76738C>T (TTN) XP_024308866.1:p.Pro25580Ser
XM_024453099.1:c.58501C>T (TTN) XP_024308867.1:p.Pro19501Ser
XM_024453100.1:c.48355C>T (TTN) XP_024308868.1:p.Pro16119Ser