Canonical Allele Identifier: CA349436079

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584678A>G , CM000664.2:g.178584678A>G GRCh38
NC_000002.11:g.179449405A>G , CM000664.1:g.179449405A>G GRCh37
NC_000002.10:g.179157651A>G NCBI36
NG_011618.3:g.251125T>C , LRG_391:g.251125T>C
NG_051363.1:g.66852A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57259T>C (TTN) ENSP00000343764.6:p.Phe19087Leu
ENST00000342175.11:c.38344T>C (TTN) ENSP00000340554.6:p.Phe12782Leu
ENST00000359218.10:c.38143T>C (TTN) ENSP00000352154.5:p.Phe12715Leu
ENST00000342175.10:c.38344T>C (TTN) ENSP00000340554.6:p.Phe12782Leu
ENST00000342992.10:c.57259T>C (TTN) ENSP00000343764.6:p.Phe19087Leu
ENST00000359218.9:c.38143T>C (TTN) ENSP00000352154.5:p.Phe12715Leu
ENST00000460472.6:c.37768T>C (TTN) ENSP00000434586.1:p.Phe12590Leu
ENST00000589042.5:c.64963T>C (TTN) MANE Select ENSP00000467141.1:p.Phe21655Leu
ENST00000591111.5:c.60040T>C (TTN) ENSP00000465570.1:p.Phe20014Leu
ENST00000615779.4:c.60040T>C (TTN) ENSP00000483597.1:p.Phe20014Leu
NM_001256850.1:c.60040T>C (TTN) NP_001243779.1:p.Phe20014Leu
NM_001267550.2:c.64963T>C (TTN) MANE Select NP_001254479.2:p.Phe21655Leu
NM_003319.4:c.37768T>C (TTN) NP_003310.4:p.Phe12590Leu
NM_133378.4:c.57259T>C (TTN) NP_596869.4:p.Phe19087Leu
NM_133432.3:c.38143T>C (TTN) NP_597676.3:p.Phe12715Leu
NM_133437.4:c.38344T>C (TTN) NP_597681.4:p.Phe12782Leu
NR_038271.1:n.597-12918A>G (TTN-AS1)
NR_038272.1:n.2873A>G (TTN-AS1)
XM_011511729.1:c.64060T>C (TTN) XP_011510031.1:p.Phe21354Leu
XM_011511730.1:c.37954T>C (TTN) XP_011510032.1:p.Phe12652Leu
XM_011511731.1:c.37813T>C (TTN) XP_011510033.1:p.Phe12605Leu
XM_017004819.1:c.63856T>C (TTN) XP_016860308.1:p.Phe21286Leu
XM_017004820.1:c.59254T>C (TTN) XP_016860309.1:p.Phe19752Leu
XM_017004821.1:c.59251T>C (TTN) XP_016860310.1:p.Phe19751Leu
XM_017004822.1:c.56293T>C (TTN) XP_016860311.1:p.Phe18765Leu
XM_017004823.1:c.37909T>C (TTN) XP_016860312.1:p.Phe12637Leu
XM_024453094.1:c.59404T>C (TTN) XP_024308862.1:p.Phe19802Leu
XM_024453095.1:c.59401T>C (TTN) XP_024308863.1:p.Phe19801Leu
XM_024453096.1:c.58834T>C (TTN) XP_024308864.1:p.Phe19612Leu
XM_024453097.1:c.56176T>C (TTN) XP_024308865.1:p.Phe18726Leu
XM_024453098.1:c.56095T>C (TTN) XP_024308866.1:p.Phe18699Leu
XM_024453099.1:c.37858T>C (TTN) XP_024308867.1:p.Phe12620Leu
XM_024453100.1:c.27712T>C (TTN) XP_024308868.1:p.Phe9238Leu