Canonical Allele Identifier: CA349425378

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536162A>C , CM000664.2:g.178536162A>C GRCh38
NC_000002.11:g.179400889A>C , CM000664.1:g.179400889A>C GRCh37
NC_000002.10:g.179109135A>C NCBI36
NG_011618.3:g.299641T>G , LRG_391:g.299641T>G
NG_051363.1:g.18336A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92881T>G (TTN) ENSP00000343764.6:p.Trp30961Gly
ENST00000342175.11:c.73966T>G (TTN) ENSP00000340554.6:p.Trp24656Gly
ENST00000359218.10:c.73765T>G (TTN) ENSP00000352154.5:p.Trp24589Gly
ENST00000342175.10:c.73966T>G (TTN) ENSP00000340554.6:p.Trp24656Gly
ENST00000342992.10:c.92881T>G (TTN) ENSP00000343764.6:p.Trp30961Gly
ENST00000359218.9:c.73765T>G (TTN) ENSP00000352154.5:p.Trp24589Gly
ENST00000460472.6:c.73390T>G (TTN) ENSP00000434586.1:p.Trp24464Gly
ENST00000589042.5:c.100585T>G (TTN) MANE Select ENSP00000467141.1:p.Trp33529Gly
ENST00000591111.5:c.95662T>G (TTN) ENSP00000465570.1:p.Trp31888Gly
ENST00000615779.4:c.95662T>G (TTN) ENSP00000483597.1:p.Trp31888Gly
NM_001256850.1:c.95662T>G (TTN) NP_001243779.1:p.Trp31888Gly
NM_001267550.2:c.100585T>G (TTN) MANE Select NP_001254479.2:p.Trp33529Gly
NM_003319.4:c.73390T>G (TTN) NP_003310.4:p.Trp24464Gly
NM_133378.4:c.92881T>G (TTN) NP_596869.4:p.Trp30961Gly
NM_133432.3:c.73765T>G (TTN) NP_597676.3:p.Trp24589Gly
NM_133437.4:c.73966T>G (TTN) NP_597681.4:p.Trp24656Gly
NR_038271.1:n.446+12526A>C (TTN-AS1)
NR_038272.1:n.316+334A>C (TTN-AS1)
XM_011511729.1:c.99682T>G (TTN) XP_011510031.1:p.Trp33228Gly
XM_011511730.1:c.73576T>G (TTN) XP_011510032.1:p.Trp24526Gly
XM_011511731.1:c.73435T>G (TTN) XP_011510033.1:p.Trp24479Gly
XM_017004819.1:c.99478T>G (TTN) XP_016860308.1:p.Trp33160Gly
XM_017004820.1:c.94876T>G (TTN) XP_016860309.1:p.Trp31626Gly
XM_017004821.1:c.94873T>G (TTN) XP_016860310.1:p.Trp31625Gly
XM_017004822.1:c.91915T>G (TTN) XP_016860311.1:p.Trp30639Gly
XM_017004823.1:c.73531T>G (TTN) XP_016860312.1:p.Trp24511Gly
XM_024453094.1:c.95026T>G (TTN) XP_024308862.1:p.Trp31676Gly
XM_024453095.1:c.95023T>G (TTN) XP_024308863.1:p.Trp31675Gly
XM_024453096.1:c.94456T>G (TTN) XP_024308864.1:p.Trp31486Gly
XM_024453097.1:c.91798T>G (TTN) XP_024308865.1:p.Trp30600Gly
XM_024453098.1:c.91717T>G (TTN) XP_024308866.1:p.Trp30573Gly
XM_024453099.1:c.73480T>G (TTN) XP_024308867.1:p.Trp24494Gly
XM_024453100.1:c.63334T>G (TTN) XP_024308868.1:p.Trp21112Gly