Canonical Allele Identifier: CA349470181

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546624G>C , CM000664.2:g.178546624G>C GRCh38
NC_000002.11:g.179411351G>C , CM000664.1:g.179411351G>C GRCh37
NC_000002.10:g.179119597G>C NCBI36
NG_011618.3:g.289179C>G , LRG_391:g.289179C>G
NG_051363.1:g.28798G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87100C>G (TTN) ENSP00000343764.6:p.Pro29034Ala
ENST00000342175.11:c.68185C>G (TTN) ENSP00000340554.6:p.Pro22729Ala
ENST00000359218.10:c.67984C>G (TTN) ENSP00000352154.5:p.Pro22662Ala
ENST00000342175.10:c.68185C>G (TTN) ENSP00000340554.6:p.Pro22729Ala
ENST00000342992.10:c.87100C>G (TTN) ENSP00000343764.6:p.Pro29034Ala
ENST00000359218.9:c.67984C>G (TTN) ENSP00000352154.5:p.Pro22662Ala
ENST00000460472.6:c.67609C>G (TTN) ENSP00000434586.1:p.Pro22537Ala
ENST00000589042.5:c.94804C>G (TTN) MANE Select ENSP00000467141.1:p.Pro31602Ala
ENST00000591111.5:c.89881C>G (TTN) ENSP00000465570.1:p.Pro29961Ala
ENST00000615779.4:c.89881C>G (TTN) ENSP00000483597.1:p.Pro29961Ala
NM_001256850.1:c.89881C>G (TTN) NP_001243779.1:p.Pro29961Ala
NM_001267550.2:c.94804C>G (TTN) MANE Select NP_001254479.2:p.Pro31602Ala
NM_003319.4:c.67609C>G (TTN) NP_003310.4:p.Pro22537Ala
NM_133378.4:c.87100C>G (TTN) NP_596869.4:p.Pro29034Ala
NM_133432.3:c.67984C>G (TTN) NP_597676.3:p.Pro22662Ala
NM_133437.4:c.68185C>G (TTN) NP_597681.4:p.Pro22729Ala
NR_038271.1:n.446+22988G>C (TTN-AS1)
NR_038272.1:n.2043+4263G>C (TTN-AS1)
XM_011511729.1:c.93901C>G (TTN) XP_011510031.1:p.Pro31301Ala
XM_011511730.1:c.67795C>G (TTN) XP_011510032.1:p.Pro22599Ala
XM_011511731.1:c.67654C>G (TTN) XP_011510033.1:p.Pro22552Ala
XM_017004819.1:c.93697C>G (TTN) XP_016860308.1:p.Pro31233Ala
XM_017004820.1:c.89095C>G (TTN) XP_016860309.1:p.Pro29699Ala
XM_017004821.1:c.89092C>G (TTN) XP_016860310.1:p.Pro29698Ala
XM_017004822.1:c.86134C>G (TTN) XP_016860311.1:p.Pro28712Ala
XM_017004823.1:c.67750C>G (TTN) XP_016860312.1:p.Pro22584Ala
XM_024453094.1:c.89245C>G (TTN) XP_024308862.1:p.Pro29749Ala
XM_024453095.1:c.89242C>G (TTN) XP_024308863.1:p.Pro29748Ala
XM_024453096.1:c.88675C>G (TTN) XP_024308864.1:p.Pro29559Ala
XM_024453097.1:c.86017C>G (TTN) XP_024308865.1:p.Pro28673Ala
XM_024453098.1:c.85936C>G (TTN) XP_024308866.1:p.Pro28646Ala
XM_024453099.1:c.67699C>G (TTN) XP_024308867.1:p.Pro22567Ala
XM_024453100.1:c.57553C>G (TTN) XP_024308868.1:p.Pro19185Ala