Canonical Allele Identifier: CA349405560

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530098T>A , CM000664.2:g.178530098T>A GRCh38
NC_000002.11:g.179394825T>A , CM000664.1:g.179394825T>A GRCh37
NC_000002.10:g.179103071T>A NCBI36
NG_011618.3:g.305705A>T , LRG_391:g.305705A>T
NG_051363.1:g.12272T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98689A>T (TTN) ENSP00000343764.6:p.Lys32897Ter
ENST00000342175.11:c.79774A>T (TTN) ENSP00000340554.6:p.Lys26592Ter
ENST00000359218.10:c.79573A>T (TTN) ENSP00000352154.5:p.Lys26525Ter
ENST00000342175.10:c.79774A>T (TTN) ENSP00000340554.6:p.Lys26592Ter
ENST00000342992.10:c.98689A>T (TTN) ENSP00000343764.6:p.Lys32897Ter
ENST00000359218.9:c.79573A>T (TTN) ENSP00000352154.5:p.Lys26525Ter
ENST00000460472.6:c.79198A>T (TTN) ENSP00000434586.1:p.Lys26400Ter
ENST00000589042.5:c.106393A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35465Ter
ENST00000591111.5:c.101470A>T (TTN) ENSP00000465570.1:p.Lys33824Ter
ENST00000615779.4:c.101470A>T (TTN) ENSP00000483597.1:p.Lys33824Ter
NM_001256850.1:c.101470A>T (TTN) NP_001243779.1:p.Lys33824Ter
NM_001267550.2:c.106393A>T (TTN) MANE Select NP_001254479.2:p.Lys35465Ter
NM_003319.4:c.79198A>T (TTN) NP_003310.4:p.Lys26400Ter
NM_133378.4:c.98689A>T (TTN) NP_596869.4:p.Lys32897Ter
NM_133432.3:c.79573A>T (TTN) NP_597676.3:p.Lys26525Ter
NM_133437.4:c.79774A>T (TTN) NP_597681.4:p.Lys26592Ter
NR_038271.1:n.446+6462T>A (TTN-AS1)
NR_038272.1:n.220-5634T>A (TTN-AS1)
XM_011511729.1:c.105490A>T (TTN) XP_011510031.1:p.Lys35164Ter
XM_011511730.1:c.79384A>T (TTN) XP_011510032.1:p.Lys26462Ter
XM_011511731.1:c.79243A>T (TTN) XP_011510033.1:p.Lys26415Ter
XM_017004819.1:c.105286A>T (TTN) XP_016860308.1:p.Lys35096Ter
XM_017004820.1:c.100684A>T (TTN) XP_016860309.1:p.Lys33562Ter
XM_017004821.1:c.100681A>T (TTN) XP_016860310.1:p.Lys33561Ter
XM_017004822.1:c.97723A>T (TTN) XP_016860311.1:p.Lys32575Ter
XM_017004823.1:c.79339A>T (TTN) XP_016860312.1:p.Lys26447Ter
XM_024453094.1:c.100834A>T (TTN) XP_024308862.1:p.Lys33612Ter
XM_024453095.1:c.100831A>T (TTN) XP_024308863.1:p.Lys33611Ter
XM_024453096.1:c.100264A>T (TTN) XP_024308864.1:p.Lys33422Ter
XM_024453097.1:c.97606A>T (TTN) XP_024308865.1:p.Lys32536Ter
XM_024453098.1:c.97525A>T (TTN) XP_024308866.1:p.Lys32509Ter
XM_024453099.1:c.79288A>T (TTN) XP_024308867.1:p.Lys26430Ter
XM_024453100.1:c.69142A>T (TTN) XP_024308868.1:p.Lys23048Ter