Canonical Allele Identifier: CA349456737

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544372T>G , CM000664.2:g.178544372T>G GRCh38
NC_000002.11:g.179409099T>G , CM000664.1:g.179409099T>G GRCh37
NC_000002.10:g.179117345T>G NCBI36
NG_011618.3:g.291431A>C , LRG_391:g.291431A>C
NG_051363.1:g.26546T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88153A>C (TTN) ENSP00000343764.6:p.Thr29385Pro
ENST00000342175.11:c.69238A>C (TTN) ENSP00000340554.6:p.Thr23080Pro
ENST00000359218.10:c.69037A>C (TTN) ENSP00000352154.5:p.Thr23013Pro
ENST00000342175.10:c.69238A>C (TTN) ENSP00000340554.6:p.Thr23080Pro
ENST00000342992.10:c.88153A>C (TTN) ENSP00000343764.6:p.Thr29385Pro
ENST00000359218.9:c.69037A>C (TTN) ENSP00000352154.5:p.Thr23013Pro
ENST00000460472.6:c.68662A>C (TTN) ENSP00000434586.1:p.Thr22888Pro
ENST00000589042.5:c.95857A>C (TTN) MANE Select ENSP00000467141.1:p.Thr31953Pro
ENST00000591111.5:c.90934A>C (TTN) ENSP00000465570.1:p.Thr30312Pro
ENST00000615779.4:c.90934A>C (TTN) ENSP00000483597.1:p.Thr30312Pro
NM_001256850.1:c.90934A>C (TTN) NP_001243779.1:p.Thr30312Pro
NM_001267550.2:c.95857A>C (TTN) MANE Select NP_001254479.2:p.Thr31953Pro
NM_003319.4:c.68662A>C (TTN) NP_003310.4:p.Thr22888Pro
NM_133378.4:c.88153A>C (TTN) NP_596869.4:p.Thr29385Pro
NM_133432.3:c.69037A>C (TTN) NP_597676.3:p.Thr23013Pro
NM_133437.4:c.69238A>C (TTN) NP_597681.4:p.Thr23080Pro
NR_038271.1:n.446+20736T>G (TTN-AS1)
NR_038272.1:n.2043+2011T>G (TTN-AS1)
XM_011511729.1:c.94954A>C (TTN) XP_011510031.1:p.Thr31652Pro
XM_011511730.1:c.68848A>C (TTN) XP_011510032.1:p.Thr22950Pro
XM_011511731.1:c.68707A>C (TTN) XP_011510033.1:p.Thr22903Pro
XM_017004819.1:c.94750A>C (TTN) XP_016860308.1:p.Thr31584Pro
XM_017004820.1:c.90148A>C (TTN) XP_016860309.1:p.Thr30050Pro
XM_017004821.1:c.90145A>C (TTN) XP_016860310.1:p.Thr30049Pro
XM_017004822.1:c.87187A>C (TTN) XP_016860311.1:p.Thr29063Pro
XM_017004823.1:c.68803A>C (TTN) XP_016860312.1:p.Thr22935Pro
XM_024453094.1:c.90298A>C (TTN) XP_024308862.1:p.Thr30100Pro
XM_024453095.1:c.90295A>C (TTN) XP_024308863.1:p.Thr30099Pro
XM_024453096.1:c.89728A>C (TTN) XP_024308864.1:p.Thr29910Pro
XM_024453097.1:c.87070A>C (TTN) XP_024308865.1:p.Thr29024Pro
XM_024453098.1:c.86989A>C (TTN) XP_024308866.1:p.Thr28997Pro
XM_024453099.1:c.68752A>C (TTN) XP_024308867.1:p.Thr22918Pro
XM_024453100.1:c.58606A>C (TTN) XP_024308868.1:p.Thr19536Pro