Canonical Allele Identifier: CA349406929

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530469G>C , CM000664.2:g.178530469G>C GRCh38
NC_000002.11:g.179395196G>C , CM000664.1:g.179395196G>C GRCh37
NC_000002.10:g.179103442G>C NCBI36
NG_011618.3:g.305334C>G , LRG_391:g.305334C>G
NG_051363.1:g.12643G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98442C>G (TTN) ENSP00000343764.6:p.Ile32814Met
ENST00000342175.11:c.79527C>G (TTN) ENSP00000340554.6:p.Ile26509Met
ENST00000359218.10:c.79326C>G (TTN) ENSP00000352154.5:p.Ile26442Met
ENST00000342175.10:c.79527C>G (TTN) ENSP00000340554.6:p.Ile26509Met
ENST00000342992.10:c.98442C>G (TTN) ENSP00000343764.6:p.Ile32814Met
ENST00000359218.9:c.79326C>G (TTN) ENSP00000352154.5:p.Ile26442Met
ENST00000460472.6:c.78951C>G (TTN) ENSP00000434586.1:p.Ile26317Met
ENST00000589042.5:c.106146C>G (TTN) MANE Select ENSP00000467141.1:p.Ile35382Met
ENST00000591111.5:c.101223C>G (TTN) ENSP00000465570.1:p.Ile33741Met
ENST00000615779.4:c.101223C>G (TTN) ENSP00000483597.1:p.Ile33741Met
NM_001256850.1:c.101223C>G (TTN) NP_001243779.1:p.Ile33741Met
NM_001267550.2:c.106146C>G (TTN) MANE Select NP_001254479.2:p.Ile35382Met
NM_003319.4:c.78951C>G (TTN) NP_003310.4:p.Ile26317Met
NM_133378.4:c.98442C>G (TTN) NP_596869.4:p.Ile32814Met
NM_133432.3:c.79326C>G (TTN) NP_597676.3:p.Ile26442Met
NM_133437.4:c.79527C>G (TTN) NP_597681.4:p.Ile26509Met
NR_038271.1:n.446+6833G>C (TTN-AS1)
NR_038272.1:n.220-5263G>C (TTN-AS1)
XM_011511729.1:c.105243C>G (TTN) XP_011510031.1:p.Ile35081Met
XM_011511730.1:c.79137C>G (TTN) XP_011510032.1:p.Ile26379Met
XM_011511731.1:c.78996C>G (TTN) XP_011510033.1:p.Ile26332Met
XM_017004819.1:c.105039C>G (TTN) XP_016860308.1:p.Ile35013Met
XM_017004820.1:c.100437C>G (TTN) XP_016860309.1:p.Ile33479Met
XM_017004821.1:c.100434C>G (TTN) XP_016860310.1:p.Ile33478Met
XM_017004822.1:c.97476C>G (TTN) XP_016860311.1:p.Ile32492Met
XM_017004823.1:c.79092C>G (TTN) XP_016860312.1:p.Ile26364Met
XM_024453094.1:c.100587C>G (TTN) XP_024308862.1:p.Ile33529Met
XM_024453095.1:c.100584C>G (TTN) XP_024308863.1:p.Ile33528Met
XM_024453096.1:c.100017C>G (TTN) XP_024308864.1:p.Ile33339Met
XM_024453097.1:c.97359C>G (TTN) XP_024308865.1:p.Ile32453Met
XM_024453098.1:c.97278C>G (TTN) XP_024308866.1:p.Ile32426Met
XM_024453099.1:c.79041C>G (TTN) XP_024308867.1:p.Ile26347Met
XM_024453100.1:c.68895C>G (TTN) XP_024308868.1:p.Ile22965Met