Canonical Allele Identifier: CA349614303

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569417T>C , CM000664.2:g.178569417T>C GRCh38
NC_000002.11:g.179434144T>C , CM000664.1:g.179434144T>C GRCh37
NC_000002.10:g.179142390T>C NCBI36
NG_011618.3:g.266386A>G , LRG_391:g.266386A>G
NG_051363.1:g.51591T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.69011A>G (TTN) ENSP00000343764.6:p.Asn23004Ser
ENST00000342175.11:c.50096A>G (TTN) ENSP00000340554.6:p.Asn16699Ser
ENST00000359218.10:c.49895A>G (TTN) ENSP00000352154.5:p.Asn16632Ser
ENST00000342175.10:c.50096A>G (TTN) ENSP00000340554.6:p.Asn16699Ser
ENST00000342992.10:c.69011A>G (TTN) ENSP00000343764.6:p.Asn23004Ser
ENST00000359218.9:c.49895A>G (TTN) ENSP00000352154.5:p.Asn16632Ser
ENST00000460472.6:c.49520A>G (TTN) ENSP00000434586.1:p.Asn16507Ser
ENST00000589042.5:c.76715A>G (TTN) MANE Select ENSP00000467141.1:p.Asn25572Ser
ENST00000591111.5:c.71792A>G (TTN) ENSP00000465570.1:p.Asn23931Ser
ENST00000615779.4:c.71792A>G (TTN) ENSP00000483597.1:p.Asn23931Ser
NM_001256850.1:c.71792A>G (TTN) NP_001243779.1:p.Asn23931Ser
NM_001267550.2:c.76715A>G (TTN) MANE Select NP_001254479.2:p.Asn25572Ser
NM_003319.4:c.49520A>G (TTN) NP_003310.4:p.Asn16507Ser
NM_133378.4:c.69011A>G (TTN) NP_596869.4:p.Asn23004Ser
NM_133432.3:c.49895A>G (TTN) NP_597676.3:p.Asn16632Ser
NM_133437.4:c.50096A>G (TTN) NP_597681.4:p.Asn16699Ser
NR_038271.1:n.447-1883T>C (TTN-AS1)
NR_038272.1:n.2044-13155T>C (TTN-AS1)
XM_011511729.1:c.75812A>G (TTN) XP_011510031.1:p.Asn25271Ser
XM_011511730.1:c.49706A>G (TTN) XP_011510032.1:p.Asn16569Ser
XM_011511731.1:c.49565A>G (TTN) XP_011510033.1:p.Asn16522Ser
XM_017004819.1:c.75608A>G (TTN) XP_016860308.1:p.Asn25203Ser
XM_017004820.1:c.71006A>G (TTN) XP_016860309.1:p.Asn23669Ser
XM_017004821.1:c.71003A>G (TTN) XP_016860310.1:p.Asn23668Ser
XM_017004822.1:c.68045A>G (TTN) XP_016860311.1:p.Asn22682Ser
XM_017004823.1:c.49661A>G (TTN) XP_016860312.1:p.Asn16554Ser
XM_024453094.1:c.71156A>G (TTN) XP_024308862.1:p.Asn23719Ser
XM_024453095.1:c.71153A>G (TTN) XP_024308863.1:p.Asn23718Ser
XM_024453096.1:c.70586A>G (TTN) XP_024308864.1:p.Asn23529Ser
XM_024453097.1:c.67928A>G (TTN) XP_024308865.1:p.Asn22643Ser
XM_024453098.1:c.67847A>G (TTN) XP_024308866.1:p.Asn22616Ser
XM_024453099.1:c.49610A>G (TTN) XP_024308867.1:p.Asn16537Ser
XM_024453100.1:c.39464A>G (TTN) XP_024308868.1:p.Asn13155Ser