Canonical Allele Identifier: CA349423096

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579297G>C , CM000664.2:g.178579297G>C GRCh38
NC_000002.11:g.179444024G>C , CM000664.1:g.179444024G>C GRCh37
NC_000002.10:g.179152270G>C NCBI36
NG_011618.3:g.256506C>G , LRG_391:g.256506C>G
NG_051363.1:g.61471G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.60029C>G (TTN) ENSP00000343764.6:p.Pro20010Arg
ENST00000342175.11:c.41114C>G (TTN) ENSP00000340554.6:p.Pro13705Arg
ENST00000359218.10:c.40913C>G (TTN) ENSP00000352154.5:p.Pro13638Arg
ENST00000342175.10:c.41114C>G (TTN) ENSP00000340554.6:p.Pro13705Arg
ENST00000342992.10:c.60029C>G (TTN) ENSP00000343764.6:p.Pro20010Arg
ENST00000359218.9:c.40913C>G (TTN) ENSP00000352154.5:p.Pro13638Arg
ENST00000460472.6:c.40538C>G (TTN) ENSP00000434586.1:p.Pro13513Arg
ENST00000589042.5:c.67733C>G (TTN) MANE Select ENSP00000467141.1:p.Pro22578Arg
ENST00000591111.5:c.62810C>G (TTN) ENSP00000465570.1:p.Pro20937Arg
ENST00000615779.4:c.62810C>G (TTN) ENSP00000483597.1:p.Pro20937Arg
NM_001256850.1:c.62810C>G (TTN) NP_001243779.1:p.Pro20937Arg
NM_001267550.2:c.67733C>G (TTN) MANE Select NP_001254479.2:p.Pro22578Arg
NM_003319.4:c.40538C>G (TTN) NP_003310.4:p.Pro13513Arg
NM_133378.4:c.60029C>G (TTN) NP_596869.4:p.Pro20010Arg
NM_133432.3:c.40913C>G (TTN) NP_597676.3:p.Pro13638Arg
NM_133437.4:c.41114C>G (TTN) NP_597681.4:p.Pro13705Arg
NR_038271.1:n.596+7848G>C (TTN-AS1)
NR_038272.1:n.2044-3275G>C (TTN-AS1)
XM_011511729.1:c.66830C>G (TTN) XP_011510031.1:p.Pro22277Arg
XM_011511730.1:c.40724C>G (TTN) XP_011510032.1:p.Pro13575Arg
XM_011511731.1:c.40583C>G (TTN) XP_011510033.1:p.Pro13528Arg
XM_017004819.1:c.66626C>G (TTN) XP_016860308.1:p.Pro22209Arg
XM_017004820.1:c.62024C>G (TTN) XP_016860309.1:p.Pro20675Arg
XM_017004821.1:c.62021C>G (TTN) XP_016860310.1:p.Pro20674Arg
XM_017004822.1:c.59063C>G (TTN) XP_016860311.1:p.Pro19688Arg
XM_017004823.1:c.40679C>G (TTN) XP_016860312.1:p.Pro13560Arg
XM_024453094.1:c.62174C>G (TTN) XP_024308862.1:p.Pro20725Arg
XM_024453095.1:c.62171C>G (TTN) XP_024308863.1:p.Pro20724Arg
XM_024453096.1:c.61604C>G (TTN) XP_024308864.1:p.Pro20535Arg
XM_024453097.1:c.58946C>G (TTN) XP_024308865.1:p.Pro19649Arg
XM_024453098.1:c.58865C>G (TTN) XP_024308866.1:p.Pro19622Arg
XM_024453099.1:c.40628C>G (TTN) XP_024308867.1:p.Pro13543Arg
XM_024453100.1:c.30482C>G (TTN) XP_024308868.1:p.Pro10161Arg