Canonical Allele Identifier: CA349594303

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566433T>G , CM000664.2:g.178566433T>G GRCh38
NC_000002.11:g.179431160T>G , CM000664.1:g.179431160T>G GRCh37
NC_000002.10:g.179139406T>G NCBI36
NG_011618.3:g.269370A>C , LRG_391:g.269370A>C
NG_051363.1:g.48607T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71995A>C (TTN) ENSP00000343764.6:p.Asn23999His
ENST00000342175.11:c.53080A>C (TTN) ENSP00000340554.6:p.Asn17694His
ENST00000359218.10:c.52879A>C (TTN) ENSP00000352154.5:p.Asn17627His
ENST00000342175.10:c.53080A>C (TTN) ENSP00000340554.6:p.Asn17694His
ENST00000342992.10:c.71995A>C (TTN) ENSP00000343764.6:p.Asn23999His
ENST00000359218.9:c.52879A>C (TTN) ENSP00000352154.5:p.Asn17627His
ENST00000460472.6:c.52504A>C (TTN) ENSP00000434586.1:p.Asn17502His
ENST00000589042.5:c.79699A>C (TTN) MANE Select ENSP00000467141.1:p.Asn26567His
ENST00000591111.5:c.74776A>C (TTN) ENSP00000465570.1:p.Asn24926His
ENST00000615779.4:c.74776A>C (TTN) ENSP00000483597.1:p.Asn24926His
NM_001256850.1:c.74776A>C (TTN) NP_001243779.1:p.Asn24926His
NM_001267550.2:c.79699A>C (TTN) MANE Select NP_001254479.2:p.Asn26567His
NM_003319.4:c.52504A>C (TTN) NP_003310.4:p.Asn17502His
NM_133378.4:c.71995A>C (TTN) NP_596869.4:p.Asn23999His
NM_133432.3:c.52879A>C (TTN) NP_597676.3:p.Asn17627His
NM_133437.4:c.53080A>C (TTN) NP_597681.4:p.Asn17694His
NR_038271.1:n.447-4867T>G (TTN-AS1)
NR_038272.1:n.2044-16139T>G (TTN-AS1)
XM_011511729.1:c.78796A>C (TTN) XP_011510031.1:p.Asn26266His
XM_011511730.1:c.52690A>C (TTN) XP_011510032.1:p.Asn17564His
XM_011511731.1:c.52549A>C (TTN) XP_011510033.1:p.Asn17517His
XM_017004819.1:c.78592A>C (TTN) XP_016860308.1:p.Asn26198His
XM_017004820.1:c.73990A>C (TTN) XP_016860309.1:p.Asn24664His
XM_017004821.1:c.73987A>C (TTN) XP_016860310.1:p.Asn24663His
XM_017004822.1:c.71029A>C (TTN) XP_016860311.1:p.Asn23677His
XM_017004823.1:c.52645A>C (TTN) XP_016860312.1:p.Asn17549His
XM_024453094.1:c.74140A>C (TTN) XP_024308862.1:p.Asn24714His
XM_024453095.1:c.74137A>C (TTN) XP_024308863.1:p.Asn24713His
XM_024453096.1:c.73570A>C (TTN) XP_024308864.1:p.Asn24524His
XM_024453097.1:c.70912A>C (TTN) XP_024308865.1:p.Asn23638His
XM_024453098.1:c.70831A>C (TTN) XP_024308866.1:p.Asn23611His
XM_024453099.1:c.52594A>C (TTN) XP_024308867.1:p.Asn17532His
XM_024453100.1:c.42448A>C (TTN) XP_024308868.1:p.Asn14150His