Canonical Allele Identifier: CA1993602
Community Standard Title: NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178604056G>T , CM000664.2:g.178604056G>T GRCh38
NC_000002.11:g.179468783G>T , CM000664.1:g.179468783G>T GRCh37
NC_000002.10:g.179177028G>T NCBI36
NG_011618.3:g.231747C>A , LRG_391:g.231747C>A
NG_051363.1:g.86230G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.54631C>A (TTN) MANE Select NP_001254479.2:p.Pro18211Thr
ENST00000589042.5:c.54631C>A (TTN) MANE Select ENSP00000467141.1:p.Pro18211Thr
NM_001256850.1:c.49708C>A (TTN) NP_001243779.1:p.Pro16570Thr
NM_003319.4:c.27436C>A (TTN) NP_003310.4:p.Pro9146Thr
NM_133378.4:c.46927C>A (TTN) NP_596869.4:p.Pro15643Thr
NM_133432.3:c.27811C>A (TTN) NP_597676.3:p.Pro9271Thr
NM_133437.4:c.28012C>A (TTN) NP_597681.4:p.Pro9338Thr
NR_038271.1:n.683-4111G>T (TTN-AS1)
NR_038272.1:n.3918-675G>T (TTN-AS1)
ENST00000342175.10:c.28012C>A (TTN) ENSP00000340554.6:p.Pro9338Thr
ENST00000342175.11:c.28012C>A (TTN) ENSP00000340554.6:p.Pro9338Thr
ENST00000342992.10:c.46927C>A (TTN) ENSP00000343764.6:p.Pro15643Thr
ENST00000342992.11:c.46927C>A (TTN) ENSP00000343764.6:p.Pro15643Thr
ENST00000359218.10:c.27811C>A (TTN) ENSP00000352154.5:p.Pro9271Thr
ENST00000359218.9:c.27811C>A (TTN) ENSP00000352154.5:p.Pro9271Thr
ENST00000460472.6:c.27436C>A (TTN) ENSP00000434586.1:p.Pro9146Thr
ENST00000591111.5:c.49708C>A (TTN) ENSP00000465570.1:p.Pro16570Thr
ENST00000615779.4:c.49708C>A (TTN) ENSP00000483597.1:p.Pro16570Thr
XM_011511729.1:c.53728C>A (TTN) XP_011510031.1:p.Pro17910Thr
XM_011511730.1:c.27622C>A (TTN) XP_011510032.1:p.Pro9208Thr
XM_011511731.1:c.27481C>A (TTN) XP_011510033.1:p.Pro9161Thr
XM_017004819.1:c.53524C>A (TTN) XP_016860308.1:p.Pro17842Thr
XM_017004820.1:c.48922C>A (TTN) XP_016860309.1:p.Pro16308Thr
XM_017004821.1:c.48919C>A (TTN) XP_016860310.1:p.Pro16307Thr
XM_017004822.1:c.45961C>A (TTN) XP_016860311.1:p.Pro15321Thr
XM_017004823.1:c.27577C>A (TTN) XP_016860312.1:p.Pro9193Thr
XM_024453094.1:c.49072C>A (TTN) XP_024308862.1:p.Pro16358Thr
XM_024453095.1:c.49069C>A (TTN) XP_024308863.1:p.Pro16357Thr
XM_024453096.1:c.48502C>A (TTN) XP_024308864.1:p.Pro16168Thr
XM_024453097.1:c.45844C>A (TTN) XP_024308865.1:p.Pro15282Thr
XM_024453098.1:c.45763C>A (TTN) XP_024308866.1:p.Pro15255Thr
XM_024453099.1:c.27526C>A (TTN) XP_024308867.1:p.Pro9176Thr
XM_024453100.1:c.17380C>A (TTN) XP_024308868.1:p.Pro5794Thr