Canonical Allele Identifier: CA1991606
Community Standard Title: NM_001267550.2(TTN):c.65937G>A (p.Pro21979=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178582519C>T , CM000664.2:g.178582519C>T GRCh38
NC_000002.11:g.179447246C>T , CM000664.1:g.179447246C>T GRCh37
NC_000002.10:g.179155492C>T NCBI36
NG_011618.3:g.253284G>A , LRG_391:g.253284G>A
NG_051363.1:g.64693C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.65937G>A (TTN) MANE Select NP_001254479.2:p.Pro21979=
ENST00000589042.5:c.65937G>A (TTN) MANE Select ENSP00000467141.1:p.Pro21979=
NM_001256850.1:c.61014G>A (TTN) NP_001243779.1:p.Pro20338=
NM_003319.4:c.38742G>A (TTN) NP_003310.4:p.Pro12914=
NM_133378.4:c.58233G>A (TTN) NP_596869.4:p.Pro19411=
NM_133432.3:c.39117G>A (TTN) NP_597676.3:p.Pro13039=
NM_133437.4:c.39318G>A (TTN) NP_597681.4:p.Pro13106=
NR_038271.1:n.596+11070C>T (TTN-AS1)
NR_038272.1:n.2044-53C>T (TTN-AS1)
ENST00000342175.10:c.39318G>A (TTN) ENSP00000340554.6:p.Pro13106=
ENST00000342175.11:c.39318G>A (TTN) ENSP00000340554.6:p.Pro13106=
ENST00000342992.10:c.58233G>A (TTN) ENSP00000343764.6:p.Pro19411=
ENST00000342992.11:c.58233G>A (TTN) ENSP00000343764.6:p.Pro19411=
ENST00000359218.10:c.39117G>A (TTN) ENSP00000352154.5:p.Pro13039=
ENST00000359218.9:c.39117G>A (TTN) ENSP00000352154.5:p.Pro13039=
ENST00000460472.6:c.38742G>A (TTN) ENSP00000434586.1:p.Pro12914=
ENST00000591111.5:c.61014G>A (TTN) ENSP00000465570.1:p.Pro20338=
ENST00000615779.4:c.61014G>A (TTN) ENSP00000483597.1:p.Pro20338=
XM_011511729.1:c.65034G>A (TTN) XP_011510031.1:p.Pro21678=
XM_011511730.1:c.38928G>A (TTN) XP_011510032.1:p.Pro12976=
XM_011511731.1:c.38787G>A (TTN) XP_011510033.1:p.Pro12929=
XM_017004819.1:c.64830G>A (TTN) XP_016860308.1:p.Pro21610=
XM_017004820.1:c.60228G>A (TTN) XP_016860309.1:p.Pro20076=
XM_017004821.1:c.60225G>A (TTN) XP_016860310.1:p.Pro20075=
XM_017004822.1:c.57267G>A (TTN) XP_016860311.1:p.Pro19089=
XM_017004823.1:c.38883G>A (TTN) XP_016860312.1:p.Pro12961=
XM_024453094.1:c.60378G>A (TTN) XP_024308862.1:p.Pro20126=
XM_024453095.1:c.60375G>A (TTN) XP_024308863.1:p.Pro20125=
XM_024453096.1:c.59808G>A (TTN) XP_024308864.1:p.Pro19936=
XM_024453097.1:c.57150G>A (TTN) XP_024308865.1:p.Pro19050=
XM_024453098.1:c.57069G>A (TTN) XP_024308866.1:p.Pro19023=
XM_024453099.1:c.38832G>A (TTN) XP_024308867.1:p.Pro12944=
XM_024453100.1:c.28686G>A (TTN) XP_024308868.1:p.Pro9562=