Canonical Allele Identifier: CA349582605

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609692T>G , CM000664.2:g.178609692T>G GRCh38
NC_000002.11:g.179474419T>G , CM000664.1:g.179474419T>G GRCh37
NC_000002.10:g.179182664T>G NCBI36
NG_011618.3:g.226111A>C , LRG_391:g.226111A>C
NG_051363.1:g.91866T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.44027A>C (TTN) ENSP00000343764.6:p.Asp14676Ala
ENST00000342175.11:c.25112A>C (TTN) ENSP00000340554.6:p.Asp8371Ala
ENST00000359218.10:c.24911A>C (TTN) ENSP00000352154.5:p.Asp8304Ala
ENST00000342175.10:c.25112A>C (TTN) ENSP00000340554.6:p.Asp8371Ala
ENST00000342992.10:c.44027A>C (TTN) ENSP00000343764.6:p.Asp14676Ala
ENST00000359218.9:c.24911A>C (TTN) ENSP00000352154.5:p.Asp8304Ala
ENST00000460472.6:c.24536A>C (TTN) ENSP00000434586.1:p.Asp8179Ala
ENST00000589042.5:c.51731A>C (TTN) MANE Select ENSP00000467141.1:p.Asp17244Ala
ENST00000591111.5:c.46808A>C (TTN) ENSP00000465570.1:p.Asp15603Ala
ENST00000615779.4:c.46808A>C (TTN) ENSP00000483597.1:p.Asp15603Ala
NM_001256850.1:c.46808A>C (TTN) NP_001243779.1:p.Asp15603Ala
NM_001267550.2:c.51731A>C (TTN) MANE Select NP_001254479.2:p.Asp17244Ala
NM_003319.4:c.24536A>C (TTN) NP_003310.4:p.Asp8179Ala
NM_133378.4:c.44027A>C (TTN) NP_596869.4:p.Asp14676Ala
NM_133432.3:c.24911A>C (TTN) NP_597676.3:p.Asp8304Ala
NM_133437.4:c.25112A>C (TTN) NP_597681.4:p.Asp8371Ala
NR_038271.1:n.782+1426T>G (TTN-AS1)
XM_011511729.1:c.50828A>C (TTN) XP_011510031.1:p.Asp16943Ala
XM_011511730.1:c.24722A>C (TTN) XP_011510032.1:p.Asp8241Ala
XM_011511731.1:c.24581A>C (TTN) XP_011510033.1:p.Asp8194Ala
XM_017004819.1:c.50624A>C (TTN) XP_016860308.1:p.Asp16875Ala
XM_017004820.1:c.46022A>C (TTN) XP_016860309.1:p.Asp15341Ala
XM_017004821.1:c.46019A>C (TTN) XP_016860310.1:p.Asp15340Ala
XM_017004822.1:c.43061A>C (TTN) XP_016860311.1:p.Asp14354Ala
XM_017004823.1:c.24677A>C (TTN) XP_016860312.1:p.Asp8226Ala
XM_024453094.1:c.46172A>C (TTN) XP_024308862.1:p.Asp15391Ala
XM_024453095.1:c.46169A>C (TTN) XP_024308863.1:p.Asp15390Ala
XM_024453096.1:c.45602A>C (TTN) XP_024308864.1:p.Asp15201Ala
XM_024453097.1:c.42944A>C (TTN) XP_024308865.1:p.Asp14315Ala
XM_024453098.1:c.42863A>C (TTN) XP_024308866.1:p.Asp14288Ala
XM_024453099.1:c.24626A>C (TTN) XP_024308867.1:p.Asp8209Ala
XM_024453100.1:c.14480A>C (TTN) XP_024308868.1:p.Asp4827Ala