Canonical Allele Identifier: CA349609007

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178615370A>T , CM000664.2:g.178615370A>T GRCh38
NC_000002.11:g.179480097A>T , CM000664.1:g.179480097A>T GRCh37
NC_000002.10:g.179188342A>T NCBI36
NG_011618.3:g.220433T>A , LRG_391:g.220433T>A
NG_051363.1:g.97544A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.40871T>A (TTN) ENSP00000343764.6:p.Val13624Asp
ENST00000342175.11:c.21956T>A (TTN) ENSP00000340554.6:p.Val7319Asp
ENST00000359218.10:c.21755T>A (TTN) ENSP00000352154.5:p.Val7252Asp
ENST00000342175.10:c.21956T>A (TTN) ENSP00000340554.6:p.Val7319Asp
ENST00000342992.10:c.40871T>A (TTN) ENSP00000343764.6:p.Val13624Asp
ENST00000359218.9:c.21755T>A (TTN) ENSP00000352154.5:p.Val7252Asp
ENST00000460472.6:c.21380T>A (TTN) ENSP00000434586.1:p.Val7127Asp
ENST00000589042.5:c.48575T>A (TTN) MANE Select ENSP00000467141.1:p.Val16192Asp
ENST00000591111.5:c.43652T>A (TTN) ENSP00000465570.1:p.Val14551Asp
ENST00000615779.4:c.43652T>A (TTN) ENSP00000483597.1:p.Val14551Asp
NM_001256850.1:c.43652T>A (TTN) NP_001243779.1:p.Val14551Asp
NM_001267550.2:c.48575T>A (TTN) MANE Select NP_001254479.2:p.Val16192Asp
NM_003319.4:c.21380T>A (TTN) NP_003310.4:p.Val7127Asp
NM_133378.4:c.40871T>A (TTN) NP_596869.4:p.Val13624Asp
NM_133432.3:c.21755T>A (TTN) NP_597676.3:p.Val7252Asp
NM_133437.4:c.21956T>A (TTN) NP_597681.4:p.Val7319Asp
NR_038271.1:n.1600A>T (TTN-AS1)
XM_011511729.1:c.47672T>A (TTN) XP_011510031.1:p.Val15891Asp
XM_011511730.1:c.21566T>A (TTN) XP_011510032.1:p.Val7189Asp
XM_011511731.1:c.21425T>A (TTN) XP_011510033.1:p.Val7142Asp
XM_017004819.1:c.47468T>A (TTN) XP_016860308.1:p.Val15823Asp
XM_017004820.1:c.42866T>A (TTN) XP_016860309.1:p.Val14289Asp
XM_017004821.1:c.42863T>A (TTN) XP_016860310.1:p.Val14288Asp
XM_017004822.1:c.39905T>A (TTN) XP_016860311.1:p.Val13302Asp
XM_017004823.1:c.21521T>A (TTN) XP_016860312.1:p.Val7174Asp
XM_024453094.1:c.43016T>A (TTN) XP_024308862.1:p.Val14339Asp
XM_024453095.1:c.43013T>A (TTN) XP_024308863.1:p.Val14338Asp
XM_024453096.1:c.42446T>A (TTN) XP_024308864.1:p.Val14149Asp
XM_024453097.1:c.39788T>A (TTN) XP_024308865.1:p.Val13263Asp
XM_024453098.1:c.39707T>A (TTN) XP_024308866.1:p.Val13236Asp
XM_024453099.1:c.21470T>A (TTN) XP_024308867.1:p.Val7157Asp
XM_024453100.1:c.11324T>A (TTN) XP_024308868.1:p.Val3775Asp