Canonical Allele Identifier: CA60982768

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178608212T>C , CM000664.2:g.178608212T>C GRCh38
NC_000002.11:g.179472939T>C , CM000664.1:g.179472939T>C GRCh37
NC_000002.10:g.179181184T>C NCBI36
NG_011618.3:g.227591A>G , LRG_391:g.227591A>G
NG_051363.1:g.90386T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.44967A>G (TTN) ENSP00000343764.6:p.Pro14989=
ENST00000342175.11:c.26052A>G (TTN) ENSP00000340554.6:p.Pro8684=
ENST00000359218.10:c.25851A>G (TTN) ENSP00000352154.5:p.Pro8617=
ENST00000342175.10:c.26052A>G (TTN) ENSP00000340554.6:p.Pro8684=
ENST00000342992.10:c.44967A>G (TTN) ENSP00000343764.6:p.Pro14989=
ENST00000359218.9:c.25851A>G (TTN) ENSP00000352154.5:p.Pro8617=
ENST00000460472.6:c.25476A>G (TTN) ENSP00000434586.1:p.Pro8492=
ENST00000589042.5:c.52671A>G (TTN) MANE Select ENSP00000467141.1:p.Pro17557=
ENST00000591111.5:c.47748A>G (TTN) ENSP00000465570.1:p.Pro15916=
ENST00000615779.4:c.47748A>G (TTN) ENSP00000483597.1:p.Pro15916=
NM_001256850.1:c.47748A>G (TTN) NP_001243779.1:p.Pro15916=
NM_001267550.2:c.52671A>G (TTN) MANE Select NP_001254479.2:p.Pro17557=
NM_003319.4:c.25476A>G (TTN) NP_003310.4:p.Pro8492=
NM_133378.4:c.44967A>G (TTN) NP_596869.4:p.Pro14989=
NM_133432.3:c.25851A>G (TTN) NP_597676.3:p.Pro8617=
NM_133437.4:c.26052A>G (TTN) NP_597681.4:p.Pro8684=
NR_038271.1:n.728T>C (TTN-AS1)
XM_011511729.1:c.51768A>G (TTN) XP_011510031.1:p.Pro17256=
XM_011511730.1:c.25662A>G (TTN) XP_011510032.1:p.Pro8554=
XM_011511731.1:c.25521A>G (TTN) XP_011510033.1:p.Pro8507=
XM_017004819.1:c.51564A>G (TTN) XP_016860308.1:p.Pro17188=
XM_017004820.1:c.46962A>G (TTN) XP_016860309.1:p.Pro15654=
XM_017004821.1:c.46959A>G (TTN) XP_016860310.1:p.Pro15653=
XM_017004822.1:c.44001A>G (TTN) XP_016860311.1:p.Pro14667=
XM_017004823.1:c.25617A>G (TTN) XP_016860312.1:p.Pro8539=
XM_024453094.1:c.47112A>G (TTN) XP_024308862.1:p.Pro15704=
XM_024453095.1:c.47109A>G (TTN) XP_024308863.1:p.Pro15703=
XM_024453096.1:c.46542A>G (TTN) XP_024308864.1:p.Pro15514=
XM_024453097.1:c.43884A>G (TTN) XP_024308865.1:p.Pro14628=
XM_024453098.1:c.43803A>G (TTN) XP_024308866.1:p.Pro14601=
XM_024453099.1:c.25566A>G (TTN) XP_024308867.1:p.Pro8522=
XM_024453100.1:c.15420A>G (TTN) XP_024308868.1:p.Pro5140=