Canonical Allele Identifier: CA349407125

Linked Data

dbSNP Id: rs1688658464

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530556A>T , CM000664.2:g.178530556A>T GRCh38
NC_000002.11:g.179395283A>T , CM000664.1:g.179395283A>T GRCh37
NC_000002.10:g.179103529A>T NCBI36
NG_011618.3:g.305247T>A , LRG_391:g.305247T>A
NG_051363.1:g.12730A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98355T>A (TTN) ENSP00000343764.6:p.Asp32785Glu
ENST00000342175.11:c.79440T>A (TTN) ENSP00000340554.6:p.Asp26480Glu
ENST00000359218.10:c.79239T>A (TTN) ENSP00000352154.5:p.Asp26413Glu
ENST00000342175.10:c.79440T>A (TTN) ENSP00000340554.6:p.Asp26480Glu
ENST00000342992.10:c.98355T>A (TTN) ENSP00000343764.6:p.Asp32785Glu
ENST00000359218.9:c.79239T>A (TTN) ENSP00000352154.5:p.Asp26413Glu
ENST00000460472.6:c.78864T>A (TTN) ENSP00000434586.1:p.Asp26288Glu
ENST00000589042.5:c.106059T>A (TTN) MANE Select ENSP00000467141.1:p.Asp35353Glu
ENST00000591111.5:c.101136T>A (TTN) ENSP00000465570.1:p.Asp33712Glu
ENST00000615779.4:c.101136T>A (TTN) ENSP00000483597.1:p.Asp33712Glu
NM_001256850.1:c.101136T>A (TTN) NP_001243779.1:p.Asp33712Glu
NM_001267550.2:c.106059T>A (TTN) MANE Select NP_001254479.2:p.Asp35353Glu
NM_003319.4:c.78864T>A (TTN) NP_003310.4:p.Asp26288Glu
NM_133378.4:c.98355T>A (TTN) NP_596869.4:p.Asp32785Glu
NM_133432.3:c.79239T>A (TTN) NP_597676.3:p.Asp26413Glu
NM_133437.4:c.79440T>A (TTN) NP_597681.4:p.Asp26480Glu
NR_038271.1:n.446+6920A>T (TTN-AS1)
NR_038272.1:n.220-5176A>T (TTN-AS1)
XM_011511729.1:c.105156T>A (TTN) XP_011510031.1:p.Asp35052Glu
XM_011511730.1:c.79050T>A (TTN) XP_011510032.1:p.Asp26350Glu
XM_011511731.1:c.78909T>A (TTN) XP_011510033.1:p.Asp26303Glu
XM_017004819.1:c.104952T>A (TTN) XP_016860308.1:p.Asp34984Glu
XM_017004820.1:c.100350T>A (TTN) XP_016860309.1:p.Asp33450Glu
XM_017004821.1:c.100347T>A (TTN) XP_016860310.1:p.Asp33449Glu
XM_017004822.1:c.97389T>A (TTN) XP_016860311.1:p.Asp32463Glu
XM_017004823.1:c.79005T>A (TTN) XP_016860312.1:p.Asp26335Glu
XM_024453094.1:c.100500T>A (TTN) XP_024308862.1:p.Asp33500Glu
XM_024453095.1:c.100497T>A (TTN) XP_024308863.1:p.Asp33499Glu
XM_024453096.1:c.99930T>A (TTN) XP_024308864.1:p.Asp33310Glu
XM_024453097.1:c.97272T>A (TTN) XP_024308865.1:p.Asp32424Glu
XM_024453098.1:c.97191T>A (TTN) XP_024308866.1:p.Asp32397Glu
XM_024453099.1:c.78954T>A (TTN) XP_024308867.1:p.Asp26318Glu
XM_024453100.1:c.68808T>A (TTN) XP_024308868.1:p.Asp22936Glu