Canonical Allele Identifier: CA349481140

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591106A>T , CM000664.2:g.178591106A>T GRCh38
NC_000002.11:g.179455833A>T , CM000664.1:g.179455833A>T GRCh37
NC_000002.10:g.179164079A>T NCBI36
NG_011618.3:g.244697T>A , LRG_391:g.244697T>A
NG_051363.1:g.73280A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52915T>A (TTN) ENSP00000343764.6:p.Tyr17639Asn
ENST00000342175.11:c.34000T>A (TTN) ENSP00000340554.6:p.Tyr11334Asn
ENST00000359218.10:c.33799T>A (TTN) ENSP00000352154.5:p.Tyr11267Asn
ENST00000342175.10:c.34000T>A (TTN) ENSP00000340554.6:p.Tyr11334Asn
ENST00000342992.10:c.52915T>A (TTN) ENSP00000343764.6:p.Tyr17639Asn
ENST00000359218.9:c.33799T>A (TTN) ENSP00000352154.5:p.Tyr11267Asn
ENST00000460472.6:c.33424T>A (TTN) ENSP00000434586.1:p.Tyr11142Asn
ENST00000589042.5:c.60619T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr20207Asn
ENST00000591111.5:c.55696T>A (TTN) ENSP00000465570.1:p.Tyr18566Asn
ENST00000615779.4:c.55696T>A (TTN) ENSP00000483597.1:p.Tyr18566Asn
NM_001256850.1:c.55696T>A (TTN) NP_001243779.1:p.Tyr18566Asn
NM_001267550.2:c.60619T>A (TTN) MANE Select NP_001254479.2:p.Tyr20207Asn
NM_003319.4:c.33424T>A (TTN) NP_003310.4:p.Tyr11142Asn
NM_133378.4:c.52915T>A (TTN) NP_596869.4:p.Tyr17639Asn
NM_133432.3:c.33799T>A (TTN) NP_597676.3:p.Tyr11267Asn
NM_133437.4:c.34000T>A (TTN) NP_597681.4:p.Tyr11334Asn
NR_038271.1:n.597-6490A>T (TTN-AS1)
NR_038272.1:n.3189-33A>T (TTN-AS1)
XM_011511729.1:c.59716T>A (TTN) XP_011510031.1:p.Tyr19906Asn
XM_011511730.1:c.33610T>A (TTN) XP_011510032.1:p.Tyr11204Asn
XM_011511731.1:c.33469T>A (TTN) XP_011510033.1:p.Tyr11157Asn
XM_017004819.1:c.59512T>A (TTN) XP_016860308.1:p.Tyr19838Asn
XM_017004820.1:c.54910T>A (TTN) XP_016860309.1:p.Tyr18304Asn
XM_017004821.1:c.54907T>A (TTN) XP_016860310.1:p.Tyr18303Asn
XM_017004822.1:c.51949T>A (TTN) XP_016860311.1:p.Tyr17317Asn
XM_017004823.1:c.33565T>A (TTN) XP_016860312.1:p.Tyr11189Asn
XM_024453094.1:c.55060T>A (TTN) XP_024308862.1:p.Tyr18354Asn
XM_024453095.1:c.55057T>A (TTN) XP_024308863.1:p.Tyr18353Asn
XM_024453096.1:c.54490T>A (TTN) XP_024308864.1:p.Tyr18164Asn
XM_024453097.1:c.51832T>A (TTN) XP_024308865.1:p.Tyr17278Asn
XM_024453098.1:c.51751T>A (TTN) XP_024308866.1:p.Tyr17251Asn
XM_024453099.1:c.33514T>A (TTN) XP_024308867.1:p.Tyr11172Asn
XM_024453100.1:c.23368T>A (TTN) XP_024308868.1:p.Tyr7790Asn