Canonical Allele Identifier: CA349411800

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532209T>G , CM000664.2:g.178532209T>G GRCh38
NC_000002.11:g.179396936T>G , CM000664.1:g.179396936T>G GRCh37
NC_000002.10:g.179105182T>G NCBI36
NG_011618.3:g.303594A>C , LRG_391:g.303594A>C
NG_051363.1:g.14383T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96702A>C (TTN) ENSP00000343764.6:p.Lys32234Asn
ENST00000342175.11:c.77787A>C (TTN) ENSP00000340554.6:p.Lys25929Asn
ENST00000359218.10:c.77586A>C (TTN) ENSP00000352154.5:p.Lys25862Asn
ENST00000342175.10:c.77787A>C (TTN) ENSP00000340554.6:p.Lys25929Asn
ENST00000342992.10:c.96702A>C (TTN) ENSP00000343764.6:p.Lys32234Asn
ENST00000359218.9:c.77586A>C (TTN) ENSP00000352154.5:p.Lys25862Asn
ENST00000460472.6:c.77211A>C (TTN) ENSP00000434586.1:p.Lys25737Asn
ENST00000589042.5:c.104406A>C (TTN) MANE Select ENSP00000467141.1:p.Lys34802Asn
ENST00000591111.5:c.99483A>C (TTN) ENSP00000465570.1:p.Lys33161Asn
ENST00000615779.4:c.99483A>C (TTN) ENSP00000483597.1:p.Lys33161Asn
NM_001256850.1:c.99483A>C (TTN) NP_001243779.1:p.Lys33161Asn
NM_001267550.2:c.104406A>C (TTN) MANE Select NP_001254479.2:p.Lys34802Asn
NM_003319.4:c.77211A>C (TTN) NP_003310.4:p.Lys25737Asn
NM_133378.4:c.96702A>C (TTN) NP_596869.4:p.Lys32234Asn
NM_133432.3:c.77586A>C (TTN) NP_597676.3:p.Lys25862Asn
NM_133437.4:c.77787A>C (TTN) NP_597681.4:p.Lys25929Asn
NR_038271.1:n.446+8573T>G (TTN-AS1)
NR_038272.1:n.220-3523T>G (TTN-AS1)
XM_011511729.1:c.103503A>C (TTN) XP_011510031.1:p.Lys34501Asn
XM_011511730.1:c.77397A>C (TTN) XP_011510032.1:p.Lys25799Asn
XM_011511731.1:c.77256A>C (TTN) XP_011510033.1:p.Lys25752Asn
XM_017004819.1:c.103299A>C (TTN) XP_016860308.1:p.Lys34433Asn
XM_017004820.1:c.98697A>C (TTN) XP_016860309.1:p.Lys32899Asn
XM_017004821.1:c.98694A>C (TTN) XP_016860310.1:p.Lys32898Asn
XM_017004822.1:c.95736A>C (TTN) XP_016860311.1:p.Lys31912Asn
XM_017004823.1:c.77352A>C (TTN) XP_016860312.1:p.Lys25784Asn
XM_024453094.1:c.98847A>C (TTN) XP_024308862.1:p.Lys32949Asn
XM_024453095.1:c.98844A>C (TTN) XP_024308863.1:p.Lys32948Asn
XM_024453096.1:c.98277A>C (TTN) XP_024308864.1:p.Lys32759Asn
XM_024453097.1:c.95619A>C (TTN) XP_024308865.1:p.Lys31873Asn
XM_024453098.1:c.95538A>C (TTN) XP_024308866.1:p.Lys31846Asn
XM_024453099.1:c.77301A>C (TTN) XP_024308867.1:p.Lys25767Asn
XM_024453100.1:c.67155A>C (TTN) XP_024308868.1:p.Lys22385Asn