Canonical Allele Identifier: CA349490082

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85159C>T (TTN) ENSP00000343764.6:p.Pro28387Ser
ENST00000342175.11:c.66244C>T (TTN) ENSP00000340554.6:p.Pro22082Ser
ENST00000359218.10:c.66043C>T (TTN) ENSP00000352154.5:p.Pro22015Ser
ENST00000342175.10:c.66244C>T (TTN) ENSP00000340554.6:p.Pro22082Ser
ENST00000342992.10:c.85159C>T (TTN) ENSP00000343764.6:p.Pro28387Ser
ENST00000359218.9:c.66043C>T (TTN) ENSP00000352154.5:p.Pro22015Ser
ENST00000460472.6:c.65668C>T (TTN) ENSP00000434586.1:p.Pro21890Ser
ENST00000589042.5:c.92863C>T (TTN) MANE Select ENSP00000467141.1:p.Pro30955Ser
ENST00000591111.5:c.87940C>T (TTN) ENSP00000465570.1:p.Pro29314Ser
ENST00000615779.4:c.87940C>T (TTN) ENSP00000483597.1:p.Pro29314Ser
NM_001256850.1:c.87940C>T (TTN) NP_001243779.1:p.Pro29314Ser
NM_001267550.2:c.92863C>T (TTN) MANE Select NP_001254479.2:p.Pro30955Ser
NM_003319.4:c.65668C>T (TTN) NP_003310.4:p.Pro21890Ser
NM_133378.4:c.85159C>T (TTN) NP_596869.4:p.Pro28387Ser
NM_133432.3:c.66043C>T (TTN) NP_597676.3:p.Pro22015Ser
NM_133437.4:c.66244C>T (TTN) NP_597681.4:p.Pro22082Ser
NR_038271.1:n.447-22537G>A (TTN-AS1)
NR_038272.1:n.2043+6402G>A (TTN-AS1)
XM_011511729.1:c.91960C>T (TTN) XP_011510031.1:p.Pro30654Ser
XM_011511730.1:c.65854C>T (TTN) XP_011510032.1:p.Pro21952Ser
XM_011511731.1:c.65713C>T (TTN) XP_011510033.1:p.Pro21905Ser
XM_017004819.1:c.91756C>T (TTN) XP_016860308.1:p.Pro30586Ser
XM_017004820.1:c.87154C>T (TTN) XP_016860309.1:p.Pro29052Ser
XM_017004821.1:c.87151C>T (TTN) XP_016860310.1:p.Pro29051Ser
XM_017004822.1:c.84193C>T (TTN) XP_016860311.1:p.Pro28065Ser
XM_017004823.1:c.65809C>T (TTN) XP_016860312.1:p.Pro21937Ser
XM_024453094.1:c.87304C>T (TTN) XP_024308862.1:p.Pro29102Ser
XM_024453095.1:c.87301C>T (TTN) XP_024308863.1:p.Pro29101Ser
XM_024453096.1:c.86734C>T (TTN) XP_024308864.1:p.Pro28912Ser
XM_024453097.1:c.84076C>T (TTN) XP_024308865.1:p.Pro28026Ser
XM_024453098.1:c.83995C>T (TTN) XP_024308866.1:p.Pro27999Ser
XM_024453099.1:c.65758C>T (TTN) XP_024308867.1:p.Pro21920Ser
XM_024453100.1:c.55612C>T (TTN) XP_024308868.1:p.Pro18538Ser