Canonical Allele Identifier: CA1992115
Community Standard Title: NM_001267550.2(TTN):c.63285G>A (p.Pro21095=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178588122C>T , CM000664.2:g.178588122C>T GRCh38
NC_000002.11:g.179452849C>T , CM000664.1:g.179452849C>T GRCh37
NC_000002.10:g.179161095C>T NCBI36
NG_011618.3:g.247681G>A , LRG_391:g.247681G>A
NG_051363.1:g.70296C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.63285G>A (TTN) MANE Select NP_001254479.2:p.Pro21095=
ENST00000589042.5:c.63285G>A (TTN) MANE Select ENSP00000467141.1:p.Pro21095=
NM_001256850.1:c.58362G>A (TTN) NP_001243779.1:p.Pro19454=
NM_003319.4:c.36090G>A (TTN) NP_003310.4:p.Pro12030=
NM_133378.4:c.55581G>A (TTN) NP_596869.4:p.Pro18527=
NM_133432.3:c.36465G>A (TTN) NP_597676.3:p.Pro12155=
NM_133437.4:c.36666G>A (TTN) NP_597681.4:p.Pro12222=
NR_038271.1:n.597-9474C>T (TTN-AS1)
NR_038272.1:n.3189-3017C>T (TTN-AS1)
ENST00000342175.10:c.36666G>A (TTN) ENSP00000340554.6:p.Pro12222=
ENST00000342175.11:c.36666G>A (TTN) ENSP00000340554.6:p.Pro12222=
ENST00000342992.10:c.55581G>A (TTN) ENSP00000343764.6:p.Pro18527=
ENST00000342992.11:c.55581G>A (TTN) ENSP00000343764.6:p.Pro18527=
ENST00000359218.10:c.36465G>A (TTN) ENSP00000352154.5:p.Pro12155=
ENST00000359218.9:c.36465G>A (TTN) ENSP00000352154.5:p.Pro12155=
ENST00000460472.6:c.36090G>A (TTN) ENSP00000434586.1:p.Pro12030=
ENST00000591111.5:c.58362G>A (TTN) ENSP00000465570.1:p.Pro19454=
ENST00000615779.4:c.58362G>A (TTN) ENSP00000483597.1:p.Pro19454=
XM_011511729.1:c.62382G>A (TTN) XP_011510031.1:p.Pro20794=
XM_011511730.1:c.36276G>A (TTN) XP_011510032.1:p.Pro12092=
XM_011511731.1:c.36135G>A (TTN) XP_011510033.1:p.Pro12045=
XM_017004819.1:c.62178G>A (TTN) XP_016860308.1:p.Pro20726=
XM_017004820.1:c.57576G>A (TTN) XP_016860309.1:p.Pro19192=
XM_017004821.1:c.57573G>A (TTN) XP_016860310.1:p.Pro19191=
XM_017004822.1:c.54615G>A (TTN) XP_016860311.1:p.Pro18205=
XM_017004823.1:c.36231G>A (TTN) XP_016860312.1:p.Pro12077=
XM_024453094.1:c.57726G>A (TTN) XP_024308862.1:p.Pro19242=
XM_024453095.1:c.57723G>A (TTN) XP_024308863.1:p.Pro19241=
XM_024453096.1:c.57156G>A (TTN) XP_024308864.1:p.Pro19052=
XM_024453097.1:c.54498G>A (TTN) XP_024308865.1:p.Pro18166=
XM_024453098.1:c.54417G>A (TTN) XP_024308866.1:p.Pro18139=
XM_024453099.1:c.36180G>A (TTN) XP_024308867.1:p.Pro12060=
XM_024453100.1:c.26034G>A (TTN) XP_024308868.1:p.Pro8678=