Canonical Allele Identifier: CA349424995

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536068A>T , CM000664.2:g.178536068A>T GRCh38
NC_000002.11:g.179400795A>T , CM000664.1:g.179400795A>T GRCh37
NC_000002.10:g.179109041A>T NCBI36
NG_011618.3:g.299735T>A , LRG_391:g.299735T>A
NG_051363.1:g.18242A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92975T>A (TTN) ENSP00000343764.6:p.Val30992Asp
ENST00000342175.11:c.74060T>A (TTN) ENSP00000340554.6:p.Val24687Asp
ENST00000359218.10:c.73859T>A (TTN) ENSP00000352154.5:p.Val24620Asp
ENST00000342175.10:c.74060T>A (TTN) ENSP00000340554.6:p.Val24687Asp
ENST00000342992.10:c.92975T>A (TTN) ENSP00000343764.6:p.Val30992Asp
ENST00000359218.9:c.73859T>A (TTN) ENSP00000352154.5:p.Val24620Asp
ENST00000460472.6:c.73484T>A (TTN) ENSP00000434586.1:p.Val24495Asp
ENST00000589042.5:c.100679T>A (TTN) MANE Select ENSP00000467141.1:p.Val33560Asp
ENST00000591111.5:c.95756T>A (TTN) ENSP00000465570.1:p.Val31919Asp
ENST00000615779.4:c.95756T>A (TTN) ENSP00000483597.1:p.Val31919Asp
NM_001256850.1:c.95756T>A (TTN) NP_001243779.1:p.Val31919Asp
NM_001267550.2:c.100679T>A (TTN) MANE Select NP_001254479.2:p.Val33560Asp
NM_003319.4:c.73484T>A (TTN) NP_003310.4:p.Val24495Asp
NM_133378.4:c.92975T>A (TTN) NP_596869.4:p.Val30992Asp
NM_133432.3:c.73859T>A (TTN) NP_597676.3:p.Val24620Asp
NM_133437.4:c.74060T>A (TTN) NP_597681.4:p.Val24687Asp
NR_038271.1:n.446+12432A>T (TTN-AS1)
NR_038272.1:n.316+240A>T (TTN-AS1)
XM_011511729.1:c.99776T>A (TTN) XP_011510031.1:p.Val33259Asp
XM_011511730.1:c.73670T>A (TTN) XP_011510032.1:p.Val24557Asp
XM_011511731.1:c.73529T>A (TTN) XP_011510033.1:p.Val24510Asp
XM_017004819.1:c.99572T>A (TTN) XP_016860308.1:p.Val33191Asp
XM_017004820.1:c.94970T>A (TTN) XP_016860309.1:p.Val31657Asp
XM_017004821.1:c.94967T>A (TTN) XP_016860310.1:p.Val31656Asp
XM_017004822.1:c.92009T>A (TTN) XP_016860311.1:p.Val30670Asp
XM_017004823.1:c.73625T>A (TTN) XP_016860312.1:p.Val24542Asp
XM_024453094.1:c.95120T>A (TTN) XP_024308862.1:p.Val31707Asp
XM_024453095.1:c.95117T>A (TTN) XP_024308863.1:p.Val31706Asp
XM_024453096.1:c.94550T>A (TTN) XP_024308864.1:p.Val31517Asp
XM_024453097.1:c.91892T>A (TTN) XP_024308865.1:p.Val30631Asp
XM_024453098.1:c.91811T>A (TTN) XP_024308866.1:p.Val30604Asp
XM_024453099.1:c.73574T>A (TTN) XP_024308867.1:p.Val24525Asp
XM_024453100.1:c.63428T>A (TTN) XP_024308868.1:p.Val21143Asp