Canonical Allele Identifier: CA349551977

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.77902C>G (TTN) ENSP00000343764.6:p.Pro25968Ala
ENST00000342175.11:c.58987C>G (TTN) ENSP00000340554.6:p.Pro19663Ala
ENST00000359218.10:c.58786C>G (TTN) ENSP00000352154.5:p.Pro19596Ala
ENST00000342175.10:c.58987C>G (TTN) ENSP00000340554.6:p.Pro19663Ala
ENST00000342992.10:c.77902C>G (TTN) ENSP00000343764.6:p.Pro25968Ala
ENST00000359218.9:c.58786C>G (TTN) ENSP00000352154.5:p.Pro19596Ala
ENST00000460472.6:c.58411C>G (TTN) ENSP00000434586.1:p.Pro19471Ala
ENST00000589042.5:c.85606C>G (TTN) MANE Select ENSP00000467141.1:p.Pro28536Ala
ENST00000591111.5:c.80683C>G (TTN) ENSP00000465570.1:p.Pro26895Ala
ENST00000615779.4:c.80683C>G (TTN) ENSP00000483597.1:p.Pro26895Ala
NM_001256850.1:c.80683C>G (TTN) NP_001243779.1:p.Pro26895Ala
NM_001267550.2:c.85606C>G (TTN) MANE Select NP_001254479.2:p.Pro28536Ala
NM_003319.4:c.58411C>G (TTN) NP_003310.4:p.Pro19471Ala
NM_133378.4:c.77902C>G (TTN) NP_596869.4:p.Pro25968Ala
NM_133432.3:c.58786C>G (TTN) NP_597676.3:p.Pro19596Ala
NM_133437.4:c.58987C>G (TTN) NP_597681.4:p.Pro19663Ala
NR_038271.1:n.447-10774G>C (TTN-AS1)
NR_038272.1:n.2043+18165G>C (TTN-AS1)
XM_011511729.1:c.84703C>G (TTN) XP_011510031.1:p.Pro28235Ala
XM_011511730.1:c.58597C>G (TTN) XP_011510032.1:p.Pro19533Ala
XM_011511731.1:c.58456C>G (TTN) XP_011510033.1:p.Pro19486Ala
XM_017004819.1:c.84499C>G (TTN) XP_016860308.1:p.Pro28167Ala
XM_017004820.1:c.79897C>G (TTN) XP_016860309.1:p.Pro26633Ala
XM_017004821.1:c.79894C>G (TTN) XP_016860310.1:p.Pro26632Ala
XM_017004822.1:c.76936C>G (TTN) XP_016860311.1:p.Pro25646Ala
XM_017004823.1:c.58552C>G (TTN) XP_016860312.1:p.Pro19518Ala
XM_024453094.1:c.80047C>G (TTN) XP_024308862.1:p.Pro26683Ala
XM_024453095.1:c.80044C>G (TTN) XP_024308863.1:p.Pro26682Ala
XM_024453096.1:c.79477C>G (TTN) XP_024308864.1:p.Pro26493Ala
XM_024453097.1:c.76819C>G (TTN) XP_024308865.1:p.Pro25607Ala
XM_024453098.1:c.76738C>G (TTN) XP_024308866.1:p.Pro25580Ala
XM_024453099.1:c.58501C>G (TTN) XP_024308867.1:p.Pro19501Ala
XM_024453100.1:c.48355C>G (TTN) XP_024308868.1:p.Pro16119Ala