Canonical Allele Identifier: CA349512620

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552662C>G , CM000664.2:g.178552662C>G GRCh38
NC_000002.11:g.179417389C>G , CM000664.1:g.179417389C>G GRCh37
NC_000002.10:g.179125635C>G NCBI36
NG_011618.3:g.283141G>C , LRG_391:g.283141G>C
NG_051363.1:g.34836C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82534G>C (TTN) ENSP00000343764.6:p.Ala27512Pro
ENST00000342175.11:c.63619G>C (TTN) ENSP00000340554.6:p.Ala21207Pro
ENST00000359218.10:c.63418G>C (TTN) ENSP00000352154.5:p.Ala21140Pro
ENST00000342175.10:c.63619G>C (TTN) ENSP00000340554.6:p.Ala21207Pro
ENST00000342992.10:c.82534G>C (TTN) ENSP00000343764.6:p.Ala27512Pro
ENST00000359218.9:c.63418G>C (TTN) ENSP00000352154.5:p.Ala21140Pro
ENST00000460472.6:c.63043G>C (TTN) ENSP00000434586.1:p.Ala21015Pro
ENST00000589042.5:c.90238G>C (TTN) MANE Select ENSP00000467141.1:p.Ala30080Pro
ENST00000591111.5:c.85315G>C (TTN) ENSP00000465570.1:p.Ala28439Pro
ENST00000615779.4:c.85315G>C (TTN) ENSP00000483597.1:p.Ala28439Pro
NM_001256850.1:c.85315G>C (TTN) NP_001243779.1:p.Ala28439Pro
NM_001267550.2:c.90238G>C (TTN) MANE Select NP_001254479.2:p.Ala30080Pro
NM_003319.4:c.63043G>C (TTN) NP_003310.4:p.Ala21015Pro
NM_133378.4:c.82534G>C (TTN) NP_596869.4:p.Ala27512Pro
NM_133432.3:c.63418G>C (TTN) NP_597676.3:p.Ala21140Pro
NM_133437.4:c.63619G>C (TTN) NP_597681.4:p.Ala21207Pro
NR_038271.1:n.447-18638C>G (TTN-AS1)
NR_038272.1:n.2043+10301C>G (TTN-AS1)
XM_011511729.1:c.89335G>C (TTN) XP_011510031.1:p.Ala29779Pro
XM_011511730.1:c.63229G>C (TTN) XP_011510032.1:p.Ala21077Pro
XM_011511731.1:c.63088G>C (TTN) XP_011510033.1:p.Ala21030Pro
XM_017004819.1:c.89131G>C (TTN) XP_016860308.1:p.Ala29711Pro
XM_017004820.1:c.84529G>C (TTN) XP_016860309.1:p.Ala28177Pro
XM_017004821.1:c.84526G>C (TTN) XP_016860310.1:p.Ala28176Pro
XM_017004822.1:c.81568G>C (TTN) XP_016860311.1:p.Ala27190Pro
XM_017004823.1:c.63184G>C (TTN) XP_016860312.1:p.Ala21062Pro
XM_024453094.1:c.84679G>C (TTN) XP_024308862.1:p.Ala28227Pro
XM_024453095.1:c.84676G>C (TTN) XP_024308863.1:p.Ala28226Pro
XM_024453096.1:c.84109G>C (TTN) XP_024308864.1:p.Ala28037Pro
XM_024453097.1:c.81451G>C (TTN) XP_024308865.1:p.Ala27151Pro
XM_024453098.1:c.81370G>C (TTN) XP_024308866.1:p.Ala27124Pro
XM_024453099.1:c.63133G>C (TTN) XP_024308867.1:p.Ala21045Pro
XM_024453100.1:c.52987G>C (TTN) XP_024308868.1:p.Ala17663Pro