Canonical Allele Identifier: CA349490091

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548763G>C , CM000664.2:g.178548763G>C GRCh38
NC_000002.11:g.179413490G>C , CM000664.1:g.179413490G>C GRCh37
NC_000002.10:g.179121736G>C NCBI36
NG_011618.3:g.287040C>G , LRG_391:g.287040C>G
NG_051363.1:g.30937G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85159C>G (TTN) ENSP00000343764.6:p.Pro28387Ala
ENST00000342175.11:c.66244C>G (TTN) ENSP00000340554.6:p.Pro22082Ala
ENST00000359218.10:c.66043C>G (TTN) ENSP00000352154.5:p.Pro22015Ala
ENST00000342175.10:c.66244C>G (TTN) ENSP00000340554.6:p.Pro22082Ala
ENST00000342992.10:c.85159C>G (TTN) ENSP00000343764.6:p.Pro28387Ala
ENST00000359218.9:c.66043C>G (TTN) ENSP00000352154.5:p.Pro22015Ala
ENST00000460472.6:c.65668C>G (TTN) ENSP00000434586.1:p.Pro21890Ala
ENST00000589042.5:c.92863C>G (TTN) MANE Select ENSP00000467141.1:p.Pro30955Ala
ENST00000591111.5:c.87940C>G (TTN) ENSP00000465570.1:p.Pro29314Ala
ENST00000615779.4:c.87940C>G (TTN) ENSP00000483597.1:p.Pro29314Ala
NM_001256850.1:c.87940C>G (TTN) NP_001243779.1:p.Pro29314Ala
NM_001267550.2:c.92863C>G (TTN) MANE Select NP_001254479.2:p.Pro30955Ala
NM_003319.4:c.65668C>G (TTN) NP_003310.4:p.Pro21890Ala
NM_133378.4:c.85159C>G (TTN) NP_596869.4:p.Pro28387Ala
NM_133432.3:c.66043C>G (TTN) NP_597676.3:p.Pro22015Ala
NM_133437.4:c.66244C>G (TTN) NP_597681.4:p.Pro22082Ala
NR_038271.1:n.447-22537G>C (TTN-AS1)
NR_038272.1:n.2043+6402G>C (TTN-AS1)
XM_011511729.1:c.91960C>G (TTN) XP_011510031.1:p.Pro30654Ala
XM_011511730.1:c.65854C>G (TTN) XP_011510032.1:p.Pro21952Ala
XM_011511731.1:c.65713C>G (TTN) XP_011510033.1:p.Pro21905Ala
XM_017004819.1:c.91756C>G (TTN) XP_016860308.1:p.Pro30586Ala
XM_017004820.1:c.87154C>G (TTN) XP_016860309.1:p.Pro29052Ala
XM_017004821.1:c.87151C>G (TTN) XP_016860310.1:p.Pro29051Ala
XM_017004822.1:c.84193C>G (TTN) XP_016860311.1:p.Pro28065Ala
XM_017004823.1:c.65809C>G (TTN) XP_016860312.1:p.Pro21937Ala
XM_024453094.1:c.87304C>G (TTN) XP_024308862.1:p.Pro29102Ala
XM_024453095.1:c.87301C>G (TTN) XP_024308863.1:p.Pro29101Ala
XM_024453096.1:c.86734C>G (TTN) XP_024308864.1:p.Pro28912Ala
XM_024453097.1:c.84076C>G (TTN) XP_024308865.1:p.Pro28026Ala
XM_024453098.1:c.83995C>G (TTN) XP_024308866.1:p.Pro27999Ala
XM_024453099.1:c.65758C>G (TTN) XP_024308867.1:p.Pro21920Ala
XM_024453100.1:c.55612C>G (TTN) XP_024308868.1:p.Pro18538Ala