Canonical Allele Identifier: CA349672036

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577892G>C , CM000664.2:g.178577892G>C GRCh38
NC_000002.11:g.179442619G>C , CM000664.1:g.179442619G>C GRCh37
NC_000002.10:g.179150865G>C NCBI36
NG_011618.3:g.257911C>G , LRG_391:g.257911C>G
NG_051363.1:g.60066G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.60830C>G (TTN) ENSP00000343764.6:p.Pro20277Arg
ENST00000342175.11:c.41915C>G (TTN) ENSP00000340554.6:p.Pro13972Arg
ENST00000359218.10:c.41714C>G (TTN) ENSP00000352154.5:p.Pro13905Arg
ENST00000342175.10:c.41915C>G (TTN) ENSP00000340554.6:p.Pro13972Arg
ENST00000342992.10:c.60830C>G (TTN) ENSP00000343764.6:p.Pro20277Arg
ENST00000359218.9:c.41714C>G (TTN) ENSP00000352154.5:p.Pro13905Arg
ENST00000460472.6:c.41339C>G (TTN) ENSP00000434586.1:p.Pro13780Arg
ENST00000589042.5:c.68534C>G (TTN) MANE Select ENSP00000467141.1:p.Pro22845Arg
ENST00000591111.5:c.63611C>G (TTN) ENSP00000465570.1:p.Pro21204Arg
ENST00000615779.4:c.63611C>G (TTN) ENSP00000483597.1:p.Pro21204Arg
NM_001256850.1:c.63611C>G (TTN) NP_001243779.1:p.Pro21204Arg
NM_001267550.2:c.68534C>G (TTN) MANE Select NP_001254479.2:p.Pro22845Arg
NM_003319.4:c.41339C>G (TTN) NP_003310.4:p.Pro13780Arg
NM_133378.4:c.60830C>G (TTN) NP_596869.4:p.Pro20277Arg
NM_133432.3:c.41714C>G (TTN) NP_597676.3:p.Pro13905Arg
NM_133437.4:c.41915C>G (TTN) NP_597681.4:p.Pro13972Arg
NR_038271.1:n.596+6443G>C (TTN-AS1)
NR_038272.1:n.2044-4680G>C (TTN-AS1)
XM_011511729.1:c.67631C>G (TTN) XP_011510031.1:p.Pro22544Arg
XM_011511730.1:c.41525C>G (TTN) XP_011510032.1:p.Pro13842Arg
XM_011511731.1:c.41384C>G (TTN) XP_011510033.1:p.Pro13795Arg
XM_017004819.1:c.67427C>G (TTN) XP_016860308.1:p.Pro22476Arg
XM_017004820.1:c.62825C>G (TTN) XP_016860309.1:p.Pro20942Arg
XM_017004821.1:c.62822C>G (TTN) XP_016860310.1:p.Pro20941Arg
XM_017004822.1:c.59864C>G (TTN) XP_016860311.1:p.Pro19955Arg
XM_017004823.1:c.41480C>G (TTN) XP_016860312.1:p.Pro13827Arg
XM_024453094.1:c.62975C>G (TTN) XP_024308862.1:p.Pro20992Arg
XM_024453095.1:c.62972C>G (TTN) XP_024308863.1:p.Pro20991Arg
XM_024453096.1:c.62405C>G (TTN) XP_024308864.1:p.Pro20802Arg
XM_024453097.1:c.59747C>G (TTN) XP_024308865.1:p.Pro19916Arg
XM_024453098.1:c.59666C>G (TTN) XP_024308866.1:p.Pro19889Arg
XM_024453099.1:c.41429C>G (TTN) XP_024308867.1:p.Pro13810Arg
XM_024453100.1:c.31283C>G (TTN) XP_024308868.1:p.Pro10428Arg