Canonical Allele Identifier: CA349496557

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593053G>C , CM000664.2:g.178593053G>C GRCh38
NC_000002.11:g.179457780G>C , CM000664.1:g.179457780G>C GRCh37
NC_000002.10:g.179166026G>C NCBI36
NG_011618.3:g.242750C>G , LRG_391:g.242750C>G
NG_051363.1:g.75227G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51362C>G (TTN) ENSP00000343764.6:p.Ala17121Gly
ENST00000342175.11:c.32447C>G (TTN) ENSP00000340554.6:p.Ala10816Gly
ENST00000359218.10:c.32246C>G (TTN) ENSP00000352154.5:p.Ala10749Gly
ENST00000342175.10:c.32447C>G (TTN) ENSP00000340554.6:p.Ala10816Gly
ENST00000342992.10:c.51362C>G (TTN) ENSP00000343764.6:p.Ala17121Gly
ENST00000359218.9:c.32246C>G (TTN) ENSP00000352154.5:p.Ala10749Gly
ENST00000460472.6:c.31871C>G (TTN) ENSP00000434586.1:p.Ala10624Gly
ENST00000589042.5:c.59066C>G (TTN) MANE Select ENSP00000467141.1:p.Ala19689Gly
ENST00000591111.5:c.54143C>G (TTN) ENSP00000465570.1:p.Ala18048Gly
ENST00000615779.4:c.54143C>G (TTN) ENSP00000483597.1:p.Ala18048Gly
NM_001256850.1:c.54143C>G (TTN) NP_001243779.1:p.Ala18048Gly
NM_001267550.2:c.59066C>G (TTN) MANE Select NP_001254479.2:p.Ala19689Gly
NM_003319.4:c.31871C>G (TTN) NP_003310.4:p.Ala10624Gly
NM_133378.4:c.51362C>G (TTN) NP_596869.4:p.Ala17121Gly
NM_133432.3:c.32246C>G (TTN) NP_597676.3:p.Ala10749Gly
NM_133437.4:c.32447C>G (TTN) NP_597681.4:p.Ala10816Gly
NR_038271.1:n.597-4543G>C (TTN-AS1)
NR_038272.1:n.3364+1739G>C (TTN-AS1)
XM_011511729.1:c.58163C>G (TTN) XP_011510031.1:p.Ala19388Gly
XM_011511730.1:c.32057C>G (TTN) XP_011510032.1:p.Ala10686Gly
XM_011511731.1:c.31916C>G (TTN) XP_011510033.1:p.Ala10639Gly
XM_017004819.1:c.57959C>G (TTN) XP_016860308.1:p.Ala19320Gly
XM_017004820.1:c.53357C>G (TTN) XP_016860309.1:p.Ala17786Gly
XM_017004821.1:c.53354C>G (TTN) XP_016860310.1:p.Ala17785Gly
XM_017004822.1:c.50396C>G (TTN) XP_016860311.1:p.Ala16799Gly
XM_017004823.1:c.32012C>G (TTN) XP_016860312.1:p.Ala10671Gly
XM_024453094.1:c.53507C>G (TTN) XP_024308862.1:p.Ala17836Gly
XM_024453095.1:c.53504C>G (TTN) XP_024308863.1:p.Ala17835Gly
XM_024453096.1:c.52937C>G (TTN) XP_024308864.1:p.Ala17646Gly
XM_024453097.1:c.50279C>G (TTN) XP_024308865.1:p.Ala16760Gly
XM_024453098.1:c.50198C>G (TTN) XP_024308866.1:p.Ala16733Gly
XM_024453099.1:c.31961C>G (TTN) XP_024308867.1:p.Ala10654Gly
XM_024453100.1:c.21815C>G (TTN) XP_024308868.1:p.Ala7272Gly