Canonical Allele Identifier: CA349405268

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530054A>C , CM000664.2:g.178530054A>C GRCh38
NC_000002.11:g.179394781A>C , CM000664.1:g.179394781A>C GRCh37
NC_000002.10:g.179103027A>C NCBI36
NG_011618.3:g.305749T>G , LRG_391:g.305749T>G
NG_051363.1:g.12228A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98733T>G (TTN) ENSP00000343764.6:p.Ile32911Met
ENST00000342175.11:c.79818T>G (TTN) ENSP00000340554.6:p.Ile26606Met
ENST00000359218.10:c.79617T>G (TTN) ENSP00000352154.5:p.Ile26539Met
ENST00000342175.10:c.79818T>G (TTN) ENSP00000340554.6:p.Ile26606Met
ENST00000342992.10:c.98733T>G (TTN) ENSP00000343764.6:p.Ile32911Met
ENST00000359218.9:c.79617T>G (TTN) ENSP00000352154.5:p.Ile26539Met
ENST00000460472.6:c.79242T>G (TTN) ENSP00000434586.1:p.Ile26414Met
ENST00000589042.5:c.106437T>G (TTN) MANE Select ENSP00000467141.1:p.Ile35479Met
ENST00000591111.5:c.101514T>G (TTN) ENSP00000465570.1:p.Ile33838Met
ENST00000615779.4:c.101514T>G (TTN) ENSP00000483597.1:p.Ile33838Met
NM_001256850.1:c.101514T>G (TTN) NP_001243779.1:p.Ile33838Met
NM_001267550.2:c.106437T>G (TTN) MANE Select NP_001254479.2:p.Ile35479Met
NM_003319.4:c.79242T>G (TTN) NP_003310.4:p.Ile26414Met
NM_133378.4:c.98733T>G (TTN) NP_596869.4:p.Ile32911Met
NM_133432.3:c.79617T>G (TTN) NP_597676.3:p.Ile26539Met
NM_133437.4:c.79818T>G (TTN) NP_597681.4:p.Ile26606Met
NR_038271.1:n.446+6418A>C (TTN-AS1)
NR_038272.1:n.220-5678A>C (TTN-AS1)
XM_011511729.1:c.105534T>G (TTN) XP_011510031.1:p.Ile35178Met
XM_011511730.1:c.79428T>G (TTN) XP_011510032.1:p.Ile26476Met
XM_011511731.1:c.79287T>G (TTN) XP_011510033.1:p.Ile26429Met
XM_017004819.1:c.105330T>G (TTN) XP_016860308.1:p.Ile35110Met
XM_017004820.1:c.100728T>G (TTN) XP_016860309.1:p.Ile33576Met
XM_017004821.1:c.100725T>G (TTN) XP_016860310.1:p.Ile33575Met
XM_017004822.1:c.97767T>G (TTN) XP_016860311.1:p.Ile32589Met
XM_017004823.1:c.79383T>G (TTN) XP_016860312.1:p.Ile26461Met
XM_024453094.1:c.100878T>G (TTN) XP_024308862.1:p.Ile33626Met
XM_024453095.1:c.100875T>G (TTN) XP_024308863.1:p.Ile33625Met
XM_024453096.1:c.100308T>G (TTN) XP_024308864.1:p.Ile33436Met
XM_024453097.1:c.97650T>G (TTN) XP_024308865.1:p.Ile32550Met
XM_024453098.1:c.97569T>G (TTN) XP_024308866.1:p.Ile32523Met
XM_024453099.1:c.79332T>G (TTN) XP_024308867.1:p.Ile26444Met
XM_024453100.1:c.69186T>G (TTN) XP_024308868.1:p.Ile23062Met