Canonical Allele Identifier: CA349621906

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618689A>T , CM000664.2:g.178618689A>T GRCh38
NC_000002.11:g.179483416A>T , CM000664.1:g.179483416A>T GRCh37
NC_000002.10:g.179191661A>T NCBI36
NG_011618.3:g.217114T>A , LRG_391:g.217114T>A
NG_051363.1:g.100863A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39157T>A (TTN) ENSP00000343764.6:p.Ser13053Thr
ENST00000342175.11:c.20242T>A (TTN) ENSP00000340554.6:p.Ser6748Thr
ENST00000359218.10:c.20041T>A (TTN) ENSP00000352154.5:p.Ser6681Thr
ENST00000342175.10:c.20242T>A (TTN) ENSP00000340554.6:p.Ser6748Thr
ENST00000342992.10:c.39157T>A (TTN) ENSP00000343764.6:p.Ser13053Thr
ENST00000359218.9:c.20041T>A (TTN) ENSP00000352154.5:p.Ser6681Thr
ENST00000460472.6:c.19666T>A (TTN) ENSP00000434586.1:p.Ser6556Thr
ENST00000589042.5:c.46861T>A (TTN) MANE Select ENSP00000467141.1:p.Ser15621Thr
ENST00000591111.5:c.41938T>A (TTN) ENSP00000465570.1:p.Ser13980Thr
ENST00000615779.4:c.41938T>A (TTN) ENSP00000483597.1:p.Ser13980Thr
NM_001256850.1:c.41938T>A (TTN) NP_001243779.1:p.Ser13980Thr
NM_001267550.2:c.46861T>A (TTN) MANE Select NP_001254479.2:p.Ser15621Thr
NM_003319.4:c.19666T>A (TTN) NP_003310.4:p.Ser6556Thr
NM_133378.4:c.39157T>A (TTN) NP_596869.4:p.Ser13053Thr
NM_133432.3:c.20041T>A (TTN) NP_597676.3:p.Ser6681Thr
NM_133437.4:c.20242T>A (TTN) NP_597681.4:p.Ser6748Thr
NR_038271.1:n.1605-1064A>T (TTN-AS1)
XM_011511729.1:c.45958T>A (TTN) XP_011510031.1:p.Ser15320Thr
XM_011511730.1:c.19852T>A (TTN) XP_011510032.1:p.Ser6618Thr
XM_011511731.1:c.19711T>A (TTN) XP_011510033.1:p.Ser6571Thr
XM_017004819.1:c.45754T>A (TTN) XP_016860308.1:p.Ser15252Thr
XM_017004820.1:c.41152T>A (TTN) XP_016860309.1:p.Ser13718Thr
XM_017004821.1:c.41149T>A (TTN) XP_016860310.1:p.Ser13717Thr
XM_017004822.1:c.38191T>A (TTN) XP_016860311.1:p.Ser12731Thr
XM_017004823.1:c.19807T>A (TTN) XP_016860312.1:p.Ser6603Thr
XM_024453094.1:c.41302T>A (TTN) XP_024308862.1:p.Ser13768Thr
XM_024453095.1:c.41299T>A (TTN) XP_024308863.1:p.Ser13767Thr
XM_024453096.1:c.40732T>A (TTN) XP_024308864.1:p.Ser13578Thr
XM_024453097.1:c.38074T>A (TTN) XP_024308865.1:p.Ser12692Thr
XM_024453098.1:c.37993T>A (TTN) XP_024308866.1:p.Ser12665Thr
XM_024453099.1:c.19756T>A (TTN) XP_024308867.1:p.Ser6586Thr
XM_024453100.1:c.9610T>A (TTN) XP_024308868.1:p.Ser3204Thr