Canonical Allele Identifier: CA349496437

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549864G>T , CM000664.2:g.178549864G>T GRCh38
NC_000002.11:g.179414591G>T , CM000664.1:g.179414591G>T GRCh37
NC_000002.10:g.179122837G>T NCBI36
NG_011618.3:g.285939C>A , LRG_391:g.285939C>A
NG_051363.1:g.32038G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84154C>A (TTN) ENSP00000343764.6:p.Pro28052Thr
ENST00000342175.11:c.65239C>A (TTN) ENSP00000340554.6:p.Pro21747Thr
ENST00000359218.10:c.65038C>A (TTN) ENSP00000352154.5:p.Pro21680Thr
ENST00000342175.10:c.65239C>A (TTN) ENSP00000340554.6:p.Pro21747Thr
ENST00000342992.10:c.84154C>A (TTN) ENSP00000343764.6:p.Pro28052Thr
ENST00000359218.9:c.65038C>A (TTN) ENSP00000352154.5:p.Pro21680Thr
ENST00000460472.6:c.64663C>A (TTN) ENSP00000434586.1:p.Pro21555Thr
ENST00000589042.5:c.91858C>A (TTN) MANE Select ENSP00000467141.1:p.Pro30620Thr
ENST00000591111.5:c.86935C>A (TTN) ENSP00000465570.1:p.Pro28979Thr
ENST00000615779.4:c.86935C>A (TTN) ENSP00000483597.1:p.Pro28979Thr
NM_001256850.1:c.86935C>A (TTN) NP_001243779.1:p.Pro28979Thr
NM_001267550.2:c.91858C>A (TTN) MANE Select NP_001254479.2:p.Pro30620Thr
NM_003319.4:c.64663C>A (TTN) NP_003310.4:p.Pro21555Thr
NM_133378.4:c.84154C>A (TTN) NP_596869.4:p.Pro28052Thr
NM_133432.3:c.65038C>A (TTN) NP_597676.3:p.Pro21680Thr
NM_133437.4:c.65239C>A (TTN) NP_597681.4:p.Pro21747Thr
NR_038271.1:n.447-21436G>T (TTN-AS1)
NR_038272.1:n.2043+7503G>T (TTN-AS1)
XM_011511729.1:c.90955C>A (TTN) XP_011510031.1:p.Pro30319Thr
XM_011511730.1:c.64849C>A (TTN) XP_011510032.1:p.Pro21617Thr
XM_011511731.1:c.64708C>A (TTN) XP_011510033.1:p.Pro21570Thr
XM_017004819.1:c.90751C>A (TTN) XP_016860308.1:p.Pro30251Thr
XM_017004820.1:c.86149C>A (TTN) XP_016860309.1:p.Pro28717Thr
XM_017004821.1:c.86146C>A (TTN) XP_016860310.1:p.Pro28716Thr
XM_017004822.1:c.83188C>A (TTN) XP_016860311.1:p.Pro27730Thr
XM_017004823.1:c.64804C>A (TTN) XP_016860312.1:p.Pro21602Thr
XM_024453094.1:c.86299C>A (TTN) XP_024308862.1:p.Pro28767Thr
XM_024453095.1:c.86296C>A (TTN) XP_024308863.1:p.Pro28766Thr
XM_024453096.1:c.85729C>A (TTN) XP_024308864.1:p.Pro28577Thr
XM_024453097.1:c.83071C>A (TTN) XP_024308865.1:p.Pro27691Thr
XM_024453098.1:c.82990C>A (TTN) XP_024308866.1:p.Pro27664Thr
XM_024453099.1:c.64753C>A (TTN) XP_024308867.1:p.Pro21585Thr
XM_024453100.1:c.54607C>A (TTN) XP_024308868.1:p.Pro18203Thr