Canonical Allele Identifier: CA349405224

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530042A>T , CM000664.2:g.178530042A>T GRCh38
NC_000002.11:g.179394769A>T , CM000664.1:g.179394769A>T GRCh37
NC_000002.10:g.179103015A>T NCBI36
NG_011618.3:g.305761T>A , LRG_391:g.305761T>A
NG_051363.1:g.12216A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98745T>A (TTN) ENSP00000343764.6:p.Asp32915Glu
ENST00000342175.11:c.79830T>A (TTN) ENSP00000340554.6:p.Asp26610Glu
ENST00000359218.10:c.79629T>A (TTN) ENSP00000352154.5:p.Asp26543Glu
ENST00000342175.10:c.79830T>A (TTN) ENSP00000340554.6:p.Asp26610Glu
ENST00000342992.10:c.98745T>A (TTN) ENSP00000343764.6:p.Asp32915Glu
ENST00000359218.9:c.79629T>A (TTN) ENSP00000352154.5:p.Asp26543Glu
ENST00000460472.6:c.79254T>A (TTN) ENSP00000434586.1:p.Asp26418Glu
ENST00000589042.5:c.106449T>A (TTN) MANE Select ENSP00000467141.1:p.Asp35483Glu
ENST00000591111.5:c.101526T>A (TTN) ENSP00000465570.1:p.Asp33842Glu
ENST00000615779.4:c.101526T>A (TTN) ENSP00000483597.1:p.Asp33842Glu
NM_001256850.1:c.101526T>A (TTN) NP_001243779.1:p.Asp33842Glu
NM_001267550.2:c.106449T>A (TTN) MANE Select NP_001254479.2:p.Asp35483Glu
NM_003319.4:c.79254T>A (TTN) NP_003310.4:p.Asp26418Glu
NM_133378.4:c.98745T>A (TTN) NP_596869.4:p.Asp32915Glu
NM_133432.3:c.79629T>A (TTN) NP_597676.3:p.Asp26543Glu
NM_133437.4:c.79830T>A (TTN) NP_597681.4:p.Asp26610Glu
NR_038271.1:n.446+6406A>T (TTN-AS1)
NR_038272.1:n.220-5690A>T (TTN-AS1)
XM_011511729.1:c.105546T>A (TTN) XP_011510031.1:p.Asp35182Glu
XM_011511730.1:c.79440T>A (TTN) XP_011510032.1:p.Asp26480Glu
XM_011511731.1:c.79299T>A (TTN) XP_011510033.1:p.Asp26433Glu
XM_017004819.1:c.105342T>A (TTN) XP_016860308.1:p.Asp35114Glu
XM_017004820.1:c.100740T>A (TTN) XP_016860309.1:p.Asp33580Glu
XM_017004821.1:c.100737T>A (TTN) XP_016860310.1:p.Asp33579Glu
XM_017004822.1:c.97779T>A (TTN) XP_016860311.1:p.Asp32593Glu
XM_017004823.1:c.79395T>A (TTN) XP_016860312.1:p.Asp26465Glu
XM_024453094.1:c.100890T>A (TTN) XP_024308862.1:p.Asp33630Glu
XM_024453095.1:c.100887T>A (TTN) XP_024308863.1:p.Asp33629Glu
XM_024453096.1:c.100320T>A (TTN) XP_024308864.1:p.Asp33440Glu
XM_024453097.1:c.97662T>A (TTN) XP_024308865.1:p.Asp32554Glu
XM_024453098.1:c.97581T>A (TTN) XP_024308866.1:p.Asp32527Glu
XM_024453099.1:c.79344T>A (TTN) XP_024308867.1:p.Asp26448Glu
XM_024453100.1:c.69198T>A (TTN) XP_024308868.1:p.Asp23066Glu