Canonical Allele Identifier: CA349495716

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549791G>C , CM000664.2:g.178549791G>C GRCh38
NC_000002.11:g.179414518G>C , CM000664.1:g.179414518G>C GRCh37
NC_000002.10:g.179122764G>C NCBI36
NG_011618.3:g.286012C>G , LRG_391:g.286012C>G
NG_051363.1:g.31965G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84227C>G (TTN) ENSP00000343764.6:p.Pro28076Arg
ENST00000342175.11:c.65312C>G (TTN) ENSP00000340554.6:p.Pro21771Arg
ENST00000359218.10:c.65111C>G (TTN) ENSP00000352154.5:p.Pro21704Arg
ENST00000342175.10:c.65312C>G (TTN) ENSP00000340554.6:p.Pro21771Arg
ENST00000342992.10:c.84227C>G (TTN) ENSP00000343764.6:p.Pro28076Arg
ENST00000359218.9:c.65111C>G (TTN) ENSP00000352154.5:p.Pro21704Arg
ENST00000460472.6:c.64736C>G (TTN) ENSP00000434586.1:p.Pro21579Arg
ENST00000589042.5:c.91931C>G (TTN) MANE Select ENSP00000467141.1:p.Pro30644Arg
ENST00000591111.5:c.87008C>G (TTN) ENSP00000465570.1:p.Pro29003Arg
ENST00000615779.4:c.87008C>G (TTN) ENSP00000483597.1:p.Pro29003Arg
NM_001256850.1:c.87008C>G (TTN) NP_001243779.1:p.Pro29003Arg
NM_001267550.2:c.91931C>G (TTN) MANE Select NP_001254479.2:p.Pro30644Arg
NM_003319.4:c.64736C>G (TTN) NP_003310.4:p.Pro21579Arg
NM_133378.4:c.84227C>G (TTN) NP_596869.4:p.Pro28076Arg
NM_133432.3:c.65111C>G (TTN) NP_597676.3:p.Pro21704Arg
NM_133437.4:c.65312C>G (TTN) NP_597681.4:p.Pro21771Arg
NR_038271.1:n.447-21509G>C (TTN-AS1)
NR_038272.1:n.2043+7430G>C (TTN-AS1)
XM_011511729.1:c.91028C>G (TTN) XP_011510031.1:p.Pro30343Arg
XM_011511730.1:c.64922C>G (TTN) XP_011510032.1:p.Pro21641Arg
XM_011511731.1:c.64781C>G (TTN) XP_011510033.1:p.Pro21594Arg
XM_017004819.1:c.90824C>G (TTN) XP_016860308.1:p.Pro30275Arg
XM_017004820.1:c.86222C>G (TTN) XP_016860309.1:p.Pro28741Arg
XM_017004821.1:c.86219C>G (TTN) XP_016860310.1:p.Pro28740Arg
XM_017004822.1:c.83261C>G (TTN) XP_016860311.1:p.Pro27754Arg
XM_017004823.1:c.64877C>G (TTN) XP_016860312.1:p.Pro21626Arg
XM_024453094.1:c.86372C>G (TTN) XP_024308862.1:p.Pro28791Arg
XM_024453095.1:c.86369C>G (TTN) XP_024308863.1:p.Pro28790Arg
XM_024453096.1:c.85802C>G (TTN) XP_024308864.1:p.Pro28601Arg
XM_024453097.1:c.83144C>G (TTN) XP_024308865.1:p.Pro27715Arg
XM_024453098.1:c.83063C>G (TTN) XP_024308866.1:p.Pro27688Arg
XM_024453099.1:c.64826C>G (TTN) XP_024308867.1:p.Pro21609Arg
XM_024453100.1:c.54680C>G (TTN) XP_024308868.1:p.Pro18227Arg