Canonical Allele Identifier: CA178794

Linked Data

ClinVar Variation Id: 165999
dbSNP Id: rs567781604

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609304C>T , CM000664.2:g.178609304C>T GRCh38
NC_000002.11:g.179474031C>T , CM000664.1:g.179474031C>T GRCh37
NC_000002.10:g.179182276C>T NCBI36
NG_011618.3:g.226499G>A , LRG_391:g.226499G>A
NG_051363.1:g.91478C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.44302G>A (TTN) ENSP00000343764.6:p.Val14768Ile
ENST00000342175.11:c.25387G>A (TTN) ENSP00000340554.6:p.Val8463Ile
ENST00000359218.10:c.25186G>A (TTN) ENSP00000352154.5:p.Val8396Ile
ENST00000342175.10:c.25387G>A (TTN) ENSP00000340554.6:p.Val8463Ile
ENST00000342992.10:c.44302G>A (TTN) ENSP00000343764.6:p.Val14768Ile
ENST00000359218.9:c.25186G>A (TTN) ENSP00000352154.5:p.Val8396Ile
ENST00000460472.6:c.24811G>A (TTN) ENSP00000434586.1:p.Val8271Ile
ENST00000589042.5:c.52006G>A (TTN) MANE Select ENSP00000467141.1:p.Val17336Ile
ENST00000591111.5:c.47083G>A (TTN) ENSP00000465570.1:p.Val15695Ile
ENST00000615779.4:c.47083G>A (TTN) ENSP00000483597.1:p.Val15695Ile
NM_001256850.1:c.47083G>A (TTN) NP_001243779.1:p.Val15695Ile
NM_001267550.2:c.52006G>A (TTN) MANE Select NP_001254479.2:p.Val17336Ile
NM_003319.4:c.24811G>A (TTN) NP_003310.4:p.Val8271Ile
NM_133378.4:c.44302G>A (TTN) NP_596869.4:p.Val14768Ile
NM_133432.3:c.25186G>A (TTN) NP_597676.3:p.Val8396Ile
NM_133437.4:c.25387G>A (TTN) NP_597681.4:p.Val8463Ile
NR_038271.1:n.782+1038C>T (TTN-AS1)
XM_011511729.1:c.51103G>A (TTN) XP_011510031.1:p.Val17035Ile
XM_011511730.1:c.24997G>A (TTN) XP_011510032.1:p.Val8333Ile
XM_011511731.1:c.24856G>A (TTN) XP_011510033.1:p.Val8286Ile
XM_017004819.1:c.50899G>A (TTN) XP_016860308.1:p.Val16967Ile
XM_017004820.1:c.46297G>A (TTN) XP_016860309.1:p.Val15433Ile
XM_017004821.1:c.46294G>A (TTN) XP_016860310.1:p.Val15432Ile
XM_017004822.1:c.43336G>A (TTN) XP_016860311.1:p.Val14446Ile
XM_017004823.1:c.24952G>A (TTN) XP_016860312.1:p.Val8318Ile
XM_024453094.1:c.46447G>A (TTN) XP_024308862.1:p.Val15483Ile
XM_024453095.1:c.46444G>A (TTN) XP_024308863.1:p.Val15482Ile
XM_024453096.1:c.45877G>A (TTN) XP_024308864.1:p.Val15293Ile
XM_024453097.1:c.43219G>A (TTN) XP_024308865.1:p.Val14407Ile
XM_024453098.1:c.43138G>A (TTN) XP_024308866.1:p.Val14380Ile
XM_024453099.1:c.24901G>A (TTN) XP_024308867.1:p.Val8301Ile
XM_024453100.1:c.14755G>A (TTN) XP_024308868.1:p.Val4919Ile