Canonical Allele Identifier: CA349616240
Community Standard Title: NM_001267550.2(TTN):c.76262C>A (p.Ser25421Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569870G>T , CM000664.2:g.178569870G>T GRCh38
NC_000002.11:g.179434597G>T , CM000664.1:g.179434597G>T GRCh37
NC_000002.10:g.179142843G>T NCBI36
NG_011618.3:g.265933C>A , LRG_391:g.265933C>A
NG_051363.1:g.52044G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.76262C>A (TTN) MANE Select NP_001254479.2:p.Ser25421Ter
ENST00000589042.5:c.76262C>A (TTN) MANE Select ENSP00000467141.1:p.Ser25421Ter
NM_001256850.1:c.71339C>A (TTN) NP_001243779.1:p.Ser23780Ter
NM_003319.4:c.49067C>A (TTN) NP_003310.4:p.Ser16356Ter
NM_133378.4:c.68558C>A (TTN) NP_596869.4:p.Ser22853Ter
NM_133432.3:c.49442C>A (TTN) NP_597676.3:p.Ser16481Ter
NM_133437.4:c.49643C>A (TTN) NP_597681.4:p.Ser16548Ter
NR_038271.1:n.447-1430G>T (TTN-AS1)
NR_038272.1:n.2044-12702G>T (TTN-AS1)
ENST00000342175.10:c.49643C>A (TTN) ENSP00000340554.6:p.Ser16548Ter
ENST00000342175.11:c.49643C>A (TTN) ENSP00000340554.6:p.Ser16548Ter
ENST00000342992.10:c.68558C>A (TTN) ENSP00000343764.6:p.Ser22853Ter
ENST00000342992.11:c.68558C>A (TTN) ENSP00000343764.6:p.Ser22853Ter
ENST00000359218.10:c.49442C>A (TTN) ENSP00000352154.5:p.Ser16481Ter
ENST00000359218.9:c.49442C>A (TTN) ENSP00000352154.5:p.Ser16481Ter
ENST00000460472.6:c.49067C>A (TTN) ENSP00000434586.1:p.Ser16356Ter
ENST00000591111.5:c.71339C>A (TTN) ENSP00000465570.1:p.Ser23780Ter
ENST00000615779.4:c.71339C>A (TTN) ENSP00000483597.1:p.Ser23780Ter
XM_011511729.1:c.75359C>A (TTN) XP_011510031.1:p.Ser25120Ter
XM_011511730.1:c.49253C>A (TTN) XP_011510032.1:p.Ser16418Ter
XM_011511731.1:c.49112C>A (TTN) XP_011510033.1:p.Ser16371Ter
XM_017004819.1:c.75155C>A (TTN) XP_016860308.1:p.Ser25052Ter
XM_017004820.1:c.70553C>A (TTN) XP_016860309.1:p.Ser23518Ter
XM_017004821.1:c.70550C>A (TTN) XP_016860310.1:p.Ser23517Ter
XM_017004822.1:c.67592C>A (TTN) XP_016860311.1:p.Ser22531Ter
XM_017004823.1:c.49208C>A (TTN) XP_016860312.1:p.Ser16403Ter
XM_024453094.1:c.70703C>A (TTN) XP_024308862.1:p.Ser23568Ter
XM_024453095.1:c.70700C>A (TTN) XP_024308863.1:p.Ser23567Ter
XM_024453096.1:c.70133C>A (TTN) XP_024308864.1:p.Ser23378Ter
XM_024453097.1:c.67475C>A (TTN) XP_024308865.1:p.Ser22492Ter
XM_024453098.1:c.67394C>A (TTN) XP_024308866.1:p.Ser22465Ter
XM_024453099.1:c.49157C>A (TTN) XP_024308867.1:p.Ser16386Ter
XM_024453100.1:c.39011C>A (TTN) XP_024308868.1:p.Ser13004Ter