Canonical Allele Identifier: CA349650779

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574341G>T , CM000664.2:g.178574341G>T GRCh38
NC_000002.11:g.179439068G>T , CM000664.1:g.179439068G>T GRCh37
NC_000002.10:g.179147314G>T NCBI36
NG_011618.3:g.261462C>A , LRG_391:g.261462C>A
NG_051363.1:g.56515G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64087C>A (TTN) ENSP00000343764.6:p.Pro21363Thr
ENST00000342175.11:c.45172C>A (TTN) ENSP00000340554.6:p.Pro15058Thr
ENST00000359218.10:c.44971C>A (TTN) ENSP00000352154.5:p.Pro14991Thr
ENST00000342175.10:c.45172C>A (TTN) ENSP00000340554.6:p.Pro15058Thr
ENST00000342992.10:c.64087C>A (TTN) ENSP00000343764.6:p.Pro21363Thr
ENST00000359218.9:c.44971C>A (TTN) ENSP00000352154.5:p.Pro14991Thr
ENST00000460472.6:c.44596C>A (TTN) ENSP00000434586.1:p.Pro14866Thr
ENST00000589042.5:c.71791C>A (TTN) MANE Select ENSP00000467141.1:p.Pro23931Thr
ENST00000591111.5:c.66868C>A (TTN) ENSP00000465570.1:p.Pro22290Thr
ENST00000615779.4:c.66868C>A (TTN) ENSP00000483597.1:p.Pro22290Thr
NM_001256850.1:c.66868C>A (TTN) NP_001243779.1:p.Pro22290Thr
NM_001267550.2:c.71791C>A (TTN) MANE Select NP_001254479.2:p.Pro23931Thr
NM_003319.4:c.44596C>A (TTN) NP_003310.4:p.Pro14866Thr
NM_133378.4:c.64087C>A (TTN) NP_596869.4:p.Pro21363Thr
NM_133432.3:c.44971C>A (TTN) NP_597676.3:p.Pro14991Thr
NM_133437.4:c.45172C>A (TTN) NP_597681.4:p.Pro15058Thr
NR_038271.1:n.596+2892G>T (TTN-AS1)
NR_038272.1:n.2044-8231G>T (TTN-AS1)
XM_011511729.1:c.70888C>A (TTN) XP_011510031.1:p.Pro23630Thr
XM_011511730.1:c.44782C>A (TTN) XP_011510032.1:p.Pro14928Thr
XM_011511731.1:c.44641C>A (TTN) XP_011510033.1:p.Pro14881Thr
XM_017004819.1:c.70684C>A (TTN) XP_016860308.1:p.Pro23562Thr
XM_017004820.1:c.66082C>A (TTN) XP_016860309.1:p.Pro22028Thr
XM_017004821.1:c.66079C>A (TTN) XP_016860310.1:p.Pro22027Thr
XM_017004822.1:c.63121C>A (TTN) XP_016860311.1:p.Pro21041Thr
XM_017004823.1:c.44737C>A (TTN) XP_016860312.1:p.Pro14913Thr
XM_024453094.1:c.66232C>A (TTN) XP_024308862.1:p.Pro22078Thr
XM_024453095.1:c.66229C>A (TTN) XP_024308863.1:p.Pro22077Thr
XM_024453096.1:c.65662C>A (TTN) XP_024308864.1:p.Pro21888Thr
XM_024453097.1:c.63004C>A (TTN) XP_024308865.1:p.Pro21002Thr
XM_024453098.1:c.62923C>A (TTN) XP_024308866.1:p.Pro20975Thr
XM_024453099.1:c.44686C>A (TTN) XP_024308867.1:p.Pro14896Thr
XM_024453100.1:c.34540C>A (TTN) XP_024308868.1:p.Pro11514Thr