Canonical Allele Identifier: CA349610688

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568735A>C , CM000664.2:g.178568735A>C GRCh38
NC_000002.11:g.179433462A>C , CM000664.1:g.179433462A>C GRCh37
NC_000002.10:g.179141708A>C NCBI36
NG_011618.3:g.267068T>G , LRG_391:g.267068T>G
NG_051363.1:g.50909A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69693T>G (TTN) ENSP00000343764.6:p.Asp23231Glu
ENST00000342175.11:c.50778T>G (TTN) ENSP00000340554.6:p.Asp16926Glu
ENST00000359218.10:c.50577T>G (TTN) ENSP00000352154.5:p.Asp16859Glu
ENST00000342175.10:c.50778T>G (TTN) ENSP00000340554.6:p.Asp16926Glu
ENST00000342992.10:c.69693T>G (TTN) ENSP00000343764.6:p.Asp23231Glu
ENST00000359218.9:c.50577T>G (TTN) ENSP00000352154.5:p.Asp16859Glu
ENST00000460472.6:c.50202T>G (TTN) ENSP00000434586.1:p.Asp16734Glu
ENST00000589042.5:c.77397T>G (TTN) MANE Select ENSP00000467141.1:p.Asp25799Glu
ENST00000591111.5:c.72474T>G (TTN) ENSP00000465570.1:p.Asp24158Glu
ENST00000615779.4:c.72474T>G (TTN) ENSP00000483597.1:p.Asp24158Glu
NM_001256850.1:c.72474T>G (TTN) NP_001243779.1:p.Asp24158Glu
NM_001267550.2:c.77397T>G (TTN) MANE Select NP_001254479.2:p.Asp25799Glu
NM_003319.4:c.50202T>G (TTN) NP_003310.4:p.Asp16734Glu
NM_133378.4:c.69693T>G (TTN) NP_596869.4:p.Asp23231Glu
NM_133432.3:c.50577T>G (TTN) NP_597676.3:p.Asp16859Glu
NM_133437.4:c.50778T>G (TTN) NP_597681.4:p.Asp16926Glu
NR_038271.1:n.447-2565A>C (TTN-AS1)
NR_038272.1:n.2044-13837A>C (TTN-AS1)
XM_011511729.1:c.76494T>G (TTN) XP_011510031.1:p.Asp25498Glu
XM_011511730.1:c.50388T>G (TTN) XP_011510032.1:p.Asp16796Glu
XM_011511731.1:c.50247T>G (TTN) XP_011510033.1:p.Asp16749Glu
XM_017004819.1:c.76290T>G (TTN) XP_016860308.1:p.Asp25430Glu
XM_017004820.1:c.71688T>G (TTN) XP_016860309.1:p.Asp23896Glu
XM_017004821.1:c.71685T>G (TTN) XP_016860310.1:p.Asp23895Glu
XM_017004822.1:c.68727T>G (TTN) XP_016860311.1:p.Asp22909Glu
XM_017004823.1:c.50343T>G (TTN) XP_016860312.1:p.Asp16781Glu
XM_024453094.1:c.71838T>G (TTN) XP_024308862.1:p.Asp23946Glu
XM_024453095.1:c.71835T>G (TTN) XP_024308863.1:p.Asp23945Glu
XM_024453096.1:c.71268T>G (TTN) XP_024308864.1:p.Asp23756Glu
XM_024453097.1:c.68610T>G (TTN) XP_024308865.1:p.Asp22870Glu
XM_024453098.1:c.68529T>G (TTN) XP_024308866.1:p.Asp22843Glu
XM_024453099.1:c.50292T>G (TTN) XP_024308867.1:p.Asp16764Glu
XM_024453100.1:c.40146T>G (TTN) XP_024308868.1:p.Asp13382Glu