Canonical Allele Identifier: CA283677

Linked Data

ClinVar Variation Id: 47276
dbSNP Id: rs115658240

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178576392G>A , CM000664.2:g.178576392G>A GRCh38
NC_000002.11:g.179441119G>A , CM000664.1:g.179441119G>A GRCh37
NC_000002.10:g.179149365G>A NCBI36
NG_011618.3:g.259411C>T , LRG_391:g.259411C>T
NG_051363.1:g.58566G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.62036C>T (TTN) ENSP00000343764.6:p.Pro20679Leu
ENST00000342175.11:c.43121C>T (TTN) ENSP00000340554.6:p.Pro14374Leu
ENST00000359218.10:c.42920C>T (TTN) ENSP00000352154.5:p.Pro14307Leu
ENST00000342175.10:c.43121C>T (TTN) ENSP00000340554.6:p.Pro14374Leu
ENST00000342992.10:c.62036C>T (TTN) ENSP00000343764.6:p.Pro20679Leu
ENST00000359218.9:c.42920C>T (TTN) ENSP00000352154.5:p.Pro14307Leu
ENST00000460472.6:c.42545C>T (TTN) ENSP00000434586.1:p.Pro14182Leu
ENST00000589042.5:c.69740C>T (TTN) MANE Select ENSP00000467141.1:p.Pro23247Leu
ENST00000591111.5:c.64817C>T (TTN) ENSP00000465570.1:p.Pro21606Leu
ENST00000615779.4:c.64817C>T (TTN) ENSP00000483597.1:p.Pro21606Leu
NM_001256850.1:c.64817C>T (TTN) NP_001243779.1:p.Pro21606Leu
NM_001267550.2:c.69740C>T (TTN) MANE Select NP_001254479.2:p.Pro23247Leu
NM_003319.4:c.42545C>T (TTN) NP_003310.4:p.Pro14182Leu
NM_133378.4:c.62036C>T (TTN) NP_596869.4:p.Pro20679Leu
NM_133432.3:c.42920C>T (TTN) NP_597676.3:p.Pro14307Leu
NM_133437.4:c.43121C>T (TTN) NP_597681.4:p.Pro14374Leu
NR_038271.1:n.596+4943G>A (TTN-AS1)
NR_038272.1:n.2044-6180G>A (TTN-AS1)
XM_011511729.1:c.68837C>T (TTN) XP_011510031.1:p.Pro22946Leu
XM_011511730.1:c.42731C>T (TTN) XP_011510032.1:p.Pro14244Leu
XM_011511731.1:c.42590C>T (TTN) XP_011510033.1:p.Pro14197Leu
XM_017004819.1:c.68633C>T (TTN) XP_016860308.1:p.Pro22878Leu
XM_017004820.1:c.64031C>T (TTN) XP_016860309.1:p.Pro21344Leu
XM_017004821.1:c.64028C>T (TTN) XP_016860310.1:p.Pro21343Leu
XM_017004822.1:c.61070C>T (TTN) XP_016860311.1:p.Pro20357Leu
XM_017004823.1:c.42686C>T (TTN) XP_016860312.1:p.Pro14229Leu
XM_024453094.1:c.64181C>T (TTN) XP_024308862.1:p.Pro21394Leu
XM_024453095.1:c.64178C>T (TTN) XP_024308863.1:p.Pro21393Leu
XM_024453096.1:c.63611C>T (TTN) XP_024308864.1:p.Pro21204Leu
XM_024453097.1:c.60953C>T (TTN) XP_024308865.1:p.Pro20318Leu
XM_024453098.1:c.60872C>T (TTN) XP_024308866.1:p.Pro20291Leu
XM_024453099.1:c.42635C>T (TTN) XP_024308867.1:p.Pro14212Leu
XM_024453100.1:c.32489C>T (TTN) XP_024308868.1:p.Pro10830Leu