Canonical Allele Identifier: CA349494208

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178592785T>G , CM000664.2:g.178592785T>G GRCh38
NC_000002.11:g.179457512T>G , CM000664.1:g.179457512T>G GRCh37
NC_000002.10:g.179165758T>G NCBI36
NG_011618.3:g.243018A>C , LRG_391:g.243018A>C
NG_051363.1:g.74959T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51630A>C (TTN) ENSP00000343764.6:p.Lys17210Asn
ENST00000342175.11:c.32715A>C (TTN) ENSP00000340554.6:p.Lys10905Asn
ENST00000359218.10:c.32514A>C (TTN) ENSP00000352154.5:p.Lys10838Asn
ENST00000342175.10:c.32715A>C (TTN) ENSP00000340554.6:p.Lys10905Asn
ENST00000342992.10:c.51630A>C (TTN) ENSP00000343764.6:p.Lys17210Asn
ENST00000359218.9:c.32514A>C (TTN) ENSP00000352154.5:p.Lys10838Asn
ENST00000460472.6:c.32139A>C (TTN) ENSP00000434586.1:p.Lys10713Asn
ENST00000589042.5:c.59334A>C (TTN) MANE Select ENSP00000467141.1:p.Lys19778Asn
ENST00000591111.5:c.54411A>C (TTN) ENSP00000465570.1:p.Lys18137Asn
ENST00000615779.4:c.54411A>C (TTN) ENSP00000483597.1:p.Lys18137Asn
NM_001256850.1:c.54411A>C (TTN) NP_001243779.1:p.Lys18137Asn
NM_001267550.2:c.59334A>C (TTN) MANE Select NP_001254479.2:p.Lys19778Asn
NM_003319.4:c.32139A>C (TTN) NP_003310.4:p.Lys10713Asn
NM_133378.4:c.51630A>C (TTN) NP_596869.4:p.Lys17210Asn
NM_133432.3:c.32514A>C (TTN) NP_597676.3:p.Lys10838Asn
NM_133437.4:c.32715A>C (TTN) NP_597681.4:p.Lys10905Asn
NR_038271.1:n.597-4811T>G (TTN-AS1)
NR_038272.1:n.3364+1471T>G (TTN-AS1)
XM_011511729.1:c.58431A>C (TTN) XP_011510031.1:p.Lys19477Asn
XM_011511730.1:c.32325A>C (TTN) XP_011510032.1:p.Lys10775Asn
XM_011511731.1:c.32184A>C (TTN) XP_011510033.1:p.Lys10728Asn
XM_017004819.1:c.58227A>C (TTN) XP_016860308.1:p.Lys19409Asn
XM_017004820.1:c.53625A>C (TTN) XP_016860309.1:p.Lys17875Asn
XM_017004821.1:c.53622A>C (TTN) XP_016860310.1:p.Lys17874Asn
XM_017004822.1:c.50664A>C (TTN) XP_016860311.1:p.Lys16888Asn
XM_017004823.1:c.32280A>C (TTN) XP_016860312.1:p.Lys10760Asn
XM_024453094.1:c.53775A>C (TTN) XP_024308862.1:p.Lys17925Asn
XM_024453095.1:c.53772A>C (TTN) XP_024308863.1:p.Lys17924Asn
XM_024453096.1:c.53205A>C (TTN) XP_024308864.1:p.Lys17735Asn
XM_024453097.1:c.50547A>C (TTN) XP_024308865.1:p.Lys16849Asn
XM_024453098.1:c.50466A>C (TTN) XP_024308866.1:p.Lys16822Asn
XM_024453099.1:c.32229A>C (TTN) XP_024308867.1:p.Lys10743Asn
XM_024453100.1:c.22083A>C (TTN) XP_024308868.1:p.Lys7361Asn